CDC34 · ENST00000215574.9

EXTENDED 291 aa (canonical 236 aa) · UniProt P49427 · CDLMPS

chr19:531766:+:CTG:ENST00000215574.9

AI summary A confidently-folded but structurally unmoored N-terminal extension is added ahead of the catalytic UBC core, with no clear domain, localization, or biophysical consequence.

How it diverges

The added 55-aa N-terminal segment folds with high confidence (mean pLDDT 0.88) and forms a discrete beta-strand element, qualifying as a Structured N-terminal extension, but it makes no contacts with the shared catalytic core and the extension-to-core PAE is very high (~28 Å), meaning its position relative to the UBC domain is essentially unresolved rather than genuinely docked. The large shared-region RMSD is not credible as a Core refold given the isoform's low global pTM (0.68 vs 0.80 canonical), so it should not be read as CDC34's catalytic core reorganizing. DeepLoc's compartment flip (Cytoplasm|Nucleus → Cytoplasm) is driven by near-identical, borderline probabilities and no change in nuclear export signal, so it does not constitute a real Localization conflict.

Why it matters

CDC34's essential function depends on an intact UBC catalytic core (Cys95 active site, acidic loop, C-terminal tail) operating from the nucleus/cytosol to charge and transfer ubiquitin within SCF complexes. A confidently-folded but unanchored extension sitting ahead of this core, with no domain gain/loss and no resolved packing against the catalytic fold, gives no structural basis to expect altered SCF engagement, chain processivity, or substrate access — the core machinery appears preserved. Likewise, the marginal DeepLoc shift does not indicate any change to the nuclear/cytosolic distribution that underlies CDC34's role in G1-S regulators like Sic1, Wee1, and p27.

Structured N-terminal extension

LLM confidence medium

The extension is a genuine translated product (reproducible across cell lines, MS-validated, conserved), but its structural placement relative to the catalytic core is unresolved by the model, and the reported core-RMSD/localization signals fail the confidence gates needed to call functional consequence.

Folding

Canonical (236 aa)

Download CIF

Isoform (291 aa)

Download CIF

Coloured by ESMFold2 pLDDT confidence (blue = high, orange/red = low). Differential region — residues 1–55 (added in isoform) — recoloured on a yellow→purple pLDDT ramp so it stands out. Drag to rotate · scroll to zoom · download a CIF to explore in your own viewer.

Canonical PAE

Isoform PAE

Predicted aligned error: expected Cα error (Å) at residue j when the fold is superposed on residue i. Dark = confident relative placement; bright = uncertain. The dashed outline marks the differential region (1–55).

Evidence — click any tile for the differential-region detail

C Conservation Interesting

LLM reasoning

The N-terminal segment this isoform adds ahead of the canonical CDC34 start shows real cross-species constraint in its own reading frame, not just noise from a short span: primate amino-acid identity is 93.0% and mammalian identity 78.9% (versus 98.1% and 96.6% for the canonical protein at those same depths, so the unique region is somewhat less conserved than canonical but still substantially conserved in absolute terms). Absolute phyloP over the unique region is 2.04, at the strong-constraint threshold, indicating purifying selection acting on this added sequence rather than it evolving as neutral, non-functional filler. Together these argue the extension is a genuine, selected coding sequence rather than an artifact of transcript annotation.

Unique region 93.0% similar across primates

Conservation metric	Canonical ORF	Differential ORF
Mean AA identity	98%	93%
Frame intact (fraction of species)	76%	58%
Species aligned	25	24
Species frame-intact	19	14
Start codon conserved	96%	12%
Deepest intact species	Microcebus_murinus	Propithecus_coquereli
Phylo depth (MRCA)	7	7

Unique region 78.9% similar across mammals

Conservation metric	Canonical ORF	Differential ORF
Mean AA identity	97%	79%
Frame intact (fraction of species)	37%	25%
Species aligned	19	12
Species frame-intact	7	3
Start codon conserved	100%	25%
Deepest intact species	Loxodonta_africana	Bos_taurus
Phylo depth (MRCA)	12	11

Unique region PhyloP: 2.04 — purifying selection

Track	Differential	Shared	vs shared
phyloP mean	2.04	4.17	0.488
phastCons mean	0.0788	0.829	—

Property	Canonical	Isoform
Start codon	ATG	CTG
Kozak context (−9..+4)	GCCGCCGCCATGG	CCAGAGCTGCTGG
phyloP at start codon	5.69	5.07
phastCons at start codon	1	0.519
phyloP over Kozak window	4.32	3.16
phastCons over Kozak window	0.351	0.598
Kozak mismatch — full consensus	0	8
Kozak window GC content	0.846	0.692

D Detection Interesting

LLM reasoning

This N-terminal extension has convergent, orthogonal evidence of real translation and protein product: the alt start site is reproducibly used across all 6 cell lines tested (p-values from ~2e-4 down to 5.95e-29), its initiation efficiency clears threshold (max 0.032, about 0.45x the canonical start's usage) rather than being a rare/noise event, and a unique-region peptide (AAPTPGPSAAAMARPLVPSSQK) was independently validated by PepQuery2 mass spec (hyperscore 26.5, p=0.0002). The efficiency being lower than canonical simply indicates the extended start is a minority but non-trivial initiation event, not that detection is weak. Together, ribosome-profiling breadth, quantified start-site usage, and orthogonal peptide-level confirmation make a strong case that this extended isoform is genuinely translated in vivo.

detected in 6/6 cell lines

Cell line	Canonical	Isoform	p-value
HeLa	4.01	1.82	0.000276
K562	26.2	3.48	5.95e-29
U2OS	4.35	0.737	3.53e-09
RPE1 Async	2.44	0.6	0.000177
RPE1 Que	2.89	0.631	1.37e-16
RPE1 Sen	2.72	0.907	8.2e-05

alt used 0.45× vs canonical

Cell line	Canonical	Isoform
HeLa	0.0714	0.0325
K562	0.179	0.0238
U2OS	0.0794	0.0135
RPE1 Async	0.0422	0.0104
RPE1 Que	0.0646	0.0141
RPE1 Sen	0.0433	0.0144

1/3 isoform-unique peptides validated

Feature	Canonical	Isoform
Tryptic peptides (in-silico)	21	3
Validated by mass-spec	0	1
Isoform-unique peptides	—	3

L Localization Not interesting

LLM reasoning

The DeepLoc top-class call flips from Cytoplasm|Nucleus to Cytoplasm-only, but the underlying probabilities barely move (top prob 0.734 vs 0.721; nucleus probability 0.528 vs 0.516, cell membrane 0.105 vs 0.108, ER 0.619 vs 0.614) — this looks like a threshold-crossing artifact rather than a genuine relocalization, especially since the nuclear export signal and soluble/membrane status are both unchanged between canonical and isoform. No sorting-signal change was detected: SignalP calls both OTHER with zero probability delta, and TargetP calls both noTP with negligible probability deltas (~0.002). The added 56-aa N-terminal extension therefore shows no credible evidence of introducing a new targeting signal or shifting subcellular compartment.

iso: Cytoplasm | canon: Cytoplasm, Nucleus

Property	Canonical	Isoform
Predicted location	Cytoplasm\|Nucleus	Cytoplasm
Sorting signals	Nuclear export signal	Nuclear export signal
Membrane	Soluble	Soluble

iso: noTP | canon: noTP

Predictor	Canonical	Isoform
TargetP	noTP	noTP
SignalP	OTHER	OTHER

M Mutation Landscape Not interesting

LLM reasoning

This is an N-terminal extension where the added segment was previously non-coding (intronic/UTR), so the germline-constraint signals are uninterpretable by construction (per the extension caveat) and cannot be used as evidence either way — confirmed here by the fact that essentially all "unique region" variant rows returned are annotated consequence="intronic" rather than missense, consistent with never-coding sequence. The one readable member, disease-variant density, argues clearly against a signal: disease enrichment ratio is 0.06 (2 disease variants in the unique region vs 143 in the shared core), there are zero pathogenic ClinVar calls anywhere in the unique region (n_matched=0 for clinsig=any), and the 108 COSMIC hits across the isoform are diffuse rather than clustered — max count per residue is only 3, and just 20.4% of hits fall on the ten busiest positions, spread over a 23-290 isoform-numbering span that lies almost entirely in the shared canonical region, not the added segment. No variant near the alternative start codon shows any special signal either. Altogether, nothing supports functional consequence of this extension in the mutation-landscape dimension.

gnomAD variants comparable in unique region — neutral

Variant set	Differential	Shared	Depletion ratio
gnomAD variants	118	513	0.99×

Property	Differential	Shared	Enrichment
ESM-C mean LLR	-2	-0.0327	—
Constrained positions	0	0	—

Variant set	Differential	Shared	Enrichment
Scorable variants	110	501	0.94×
Damaging variants	8	223	0.15×
— of which loss-of-function	8	30	1.1×
AlphaMissense-pathogenic	0	125	0×

Property	Differential	Shared
Mean ΔLLR (ESM-C)	-0.925	-5.21
Min ΔLLR (ESM-C)	-3.86	-15.5
Mean AlphaMissense	—	0.507

Disease variants 16.66× less in unique region — depleted

Variant set	Differential	Shared	Enrichment
Disease variants	2	143	0.06×
Pathogenic	0	0	—

Variant set	Differential	Shared	Enrichment
Scorable variants	2	140	0.061×
Damaging variants	0	76	0×
— of which loss-of-function	0	1	0×
AlphaMissense-pathogenic	0	51	0×

Property	Differential	Shared
Mean ΔLLR (ESM-C)	0.156	-6.67
Min ΔLLR (ESM-C)	0	-14.8
Mean AlphaMissense	—	0.569

P Predicted Structure Neutral

LLM reasoning

The 55-residue N-terminal extension folds confidently and uniformly (mean pLDDT 0.881, min 0.75 across the full window, no disordered sub-stretch) and forms a genuine 12-residue strand (pLDDT 0.844) rather than a coil dressed up by a high-confidence flanking region. However this element is not docked against the rest of the protein: it contacts only its immediate extension neighbors (residues 30-31 and 44-45, all within the differential region itself, 6 total contacts) and the mean PAE between the whole extension and the shared core is 27.8 Å, indicating the relative orientation is essentially unresolved. The large shared-region RMSD (11.96 Å) reported for this isoform is therefore not credible as a real core refold — the isoform's global pTM (0.677) is markedly lower than the canonical's (0.804), exactly the low-confidence signature the RMSD confidence gate warns about, even though shared-region pLDDT itself reads high (~0.90) on both sides. Net picture: a confidently-folded but structurally isolated extension dangling off an otherwise unperturbed core, which is a real but modest finding, not a strong functional signal.

pLDDT Differential Region: 0.881

Metric	Canonical	Isoform
pLDDT (whole protein)	0.899	0.897

Metric	Differential	Shared	Enrichment
pLDDT	0.881	0.879	1

Shared-Region RMSD: 11.96 Å

Property	Canonical	Isoform
Shared-region pLDDT	0.899	0.901

1 secondary structure identified in unique region

Metric	Differential	Shared
Alpha helices	0	4
Beta strands	1	4
Longest element (aa)	12	20
Mean pLDDT	0.84	0.94

Isoform-unique	Shared core
beta strand 32–43 12 aa · pLDDT 0.84	alpha helix 63–77 15 aa · pLDDT 0.90
—	beta strand 95–100 6 aa · pLDDT 0.98
—	beta strand 111–119 9 aa · pLDDT 0.96
—	beta strand 126–132 7 aa · pLDDT 0.97
—	alpha helix 175–187 13 aa · pLDDT 0.94
—	alpha helix 197–209 13 aa · pLDDT 0.97
—	alpha helix 215–234 20 aa · pLDDT 0.95
—	beta strand 275–289 15 aa · pLDDT 0.84

Isoform-unique	Shared core
—	beta strand 83–87 5 aa · pLDDT 0.95

S Structural Characteristics Neutral

LLM reasoning

No submodule in this category crosses its threshold, so there is no strong structural signature attached to the added N-terminal 56-aa segment. Domain analysis finds no real InterPro domain gain or loss overlapping the differential region (only generic disorder predictions, which don't count). The whole-protein biophysical shift is not scored as distinct: gravy delta -0.014, fraction-charged delta -0.019, and disorder delta +0.037 are all small, despite the unique region itself showing high low-complexity (0.75) and disorder (0.33) fraction relative to the shared region -- these regional contrasts don't translate into a whole-protein-level shift. The sparse-autoencoder magnitude check also falls short of threshold (top shared-feature |delta| 5.73 vs 10.0 needed), so the 134 gained/57 lost feature counts are just a byproduct of the extra 56 residues and carry no interpretive weight. Overall, this category yields no coherent evidence that the extension changes the protein's domain content, bulk biophysical character, or embedding-level structure in a consequential way.

No diverging domains

Feature	Canonical	Isoform
InterPro domains	10	10
Short linear motifs	2	2

similar hydropathy · less charged (-0.10) · more disordered (+0.20)

Property	Differential	Shared	Enrichment
Isoelectric point (pI)	4.75	4.13	1.15
Hydropathy (GRAVY)	-0.685	-0.612	1.12
Fraction charged	0.2	0.301	0.665
Disorder fraction	0.334	0.138	2.43
Disorder-promoting	0.909	0.576	1.58
Low-complexity fraction	0.746	0.106	7.04
Prion-like fraction	0.345	0.237	1.46
LLPS score	0.3	0.166	1.81
π–π propensity	0.0909	0.216	0.421
Aromaticity	0	0.11	0
Instability index	80	51.6	1.55
Shannon entropy	2.93	4.09	0.717
Normalized complexity	0.679	0.947	0.717

191 SAE features differ

Feature	Label	Description	Activation	Prevalence
#448	N-terminal leader/targeting segments	N-terminal leader/targeting segments: the feature activates on the extreme N-terminus (first 2–5 residues) of proteins, especially the N-region of signal peptides and organelle transit peptides, and more generally on short, disordered/low-complexity N-terminal tails; strongest at residue ~3 and largely independent of amino-acid identity, occurring across all taxa and functions.	16.61	2
#4992	Small-residue disordered N-terminus	Context-dependent free N-terminus signature: short, disordered amino-terminal stretches beginning with the initiator Met followed by residues compatible with MAP cleavage or N-acetylation (e.g., M–G/A/S/T/V, and other contexts including M–D/E/L); strongest emphasis on small residues at positions 2–3; activation is absent when the native N-terminus is structured or starts with a signal peptide/transmembrane segment.	14.91	3
#7996	Generic extreme N-terminus detector	Generic extreme N-terminus detector: marks residues around position 5 (occasionally 6–7) at the very start of the polypeptide, most often within the N-region of signal/transit peptides of secreted or organelle-targeted precursors, but also in generally disordered N-termini of cytosolic/nuclear proteins; not motif- or residue-specific	11.23	2
#3609	Position-2 N-terminus residue detector	Detector of the identity of the second residue at the extreme N-terminus of proteins, with strongest preference for small residues (especially Ser, Ala, and Gly; also Thr/Pro), i.e., an N-terminal position-2 signal commonly associated with generic, disordered starts and co-translational N-terminus processing	10.88	3
#11504	Initiator methionine at M1	Initiator methionine at the very start of the polypeptide chain (M1), i.e., the translation start residue, independent of protein family, taxonomy, membrane association, or presence of signal/leader/propeptide regions; often annotated as post-translationally removed and typically situated in a flexible, coil-like N-terminus.	9.71	2
#5241	Early N-terminal positional signal	Generic early N-terminus positional signal peaking at residue ~5–7, found broadly within the disordered N-tail of proteins, including both cleavable leader/targeting segments (signal peptides, propeptides) of precursor proteins and disordered N-terminal regions of mature proteins; residue identity is not specific	8.88	2
#4012	Proline-directed IDR phosphorylation	Intrinsically disordered Ser/Thr phosphorylation hotspots, with a strong preference for proline‑directed motifs (S/T‑P) characteristic of CDK/MAPK-like kinase targets across diverse eukaryotic regulators and viral phosphoproteins.	7.78	9
#6403	Basic disordered NLS/NA-binding patches	Positively charged, lysine/arginine‑rich intrinsically disordered segments (often at the N‑terminus) that serve as generic nucleic‑acid/chromatin‑binding patches and/or classical nuclear localization signals, frequently flanked by serine/threonine sites for phosphoregulation; prevalent in nuclear and DNA/RNA‑associated proteins, including many nuclear DNA viruses.	6.52	2
#6398	Polar low-complexity disordered stretches	Polar/small-residue-enriched (often Ser/Thr- and Pro-rich) stretches, frequently within intrinsically disordered or low-complexity regions and N-terminal tails/propeptides; can extend into short, flexible helices in small proteins, and is also seen in localized patches within folded domains	5.11	6
#8461	Ciliary/meiotic charged coiled-coils	Signal for residues within long α-helical coiled-coil segments of cilia/flagella- and meiosis-associated structural proteins, firing on heptad-repeat positions in charged, Glu/Lys/Arg-rich stretches.	5.04	3
#2038	Disordered low-complexity regulatory regions	Low-complexity, intrinsically disordered regulatory regions enriched for serine/threonine and glutamine/asparagine (often with glycine/proline/histidine runs), typically located in N- or C-terminal tails and flexible linkers of eukaryotic proteins; these segments include transcriptional activation/repression regions and phosphorylation-modulated interaction sites, while structured catalytic or DNA/RNA-binding domains are not targeted.	5.03	56
#11429	G/S-rich disordered low-complexity	Intrinsically disordered, low‑complexity regions enriched in glycine and serine (with frequent threonine and Q/N tracts)—i.e., SG‑repeat and polar low‑complexity segments—common in eukaryotic regulators and some viral proteins, and largely absent from folded catalytic cores.	4.43	13
#9962	S/T/P-rich disordered regulatory tails	Intrinsically disordered, low‑complexity regions enriched in serine, threonine, proline and polar/charged residues—flexible regulatory linkers/tails and propeptide segments that often host short linear motifs (e.g., phosphorylation- and proline‑rich motifs) and proteolytic processing sites; signal is absent from well‑folded catalytic domains and is common across taxa	4.25	5
#14667	Acidic low-complexity N-termini	N-terminal acidic, proline/glycine-rich, low-complexity intrinsically disordered segments (PEST-like DE-rich tracts), typically short contiguous patches rather than hydrophobic signal peptides.	4.20	13
#11159	Glycine residue identity detector	Residue-identity detector for glycine (G), largely context-agnostic but with a tendency to fire on glycines in flexible/disordered, often N-terminal or membrane-proximal regions; also active on glycines within transmembrane helices; broadly taxon- and function-independent.	3.97	14
#9852	N-terminus activation; hydrophobic helices secondary	Extreme N-terminal regions of proteins, starting at the initiator methionine and extending over a short stretch, with occasional secondary activation at internal hydrophobic/amphipathic helices.	3.96	49
#990	N-terminal low-complexity IDRs	N-terminal intrinsically disordered, low-complexity regulatory segments of eukaryotic proteins—especially transcription factors—typically enriched in polar/low‑complexity residues (S/P/G/Q/H/N) and sometimes containing short alpha-helical propensity, with little to no activation in folded DNA-binding or catalytic domains.	3.89	22
#11848	Basic low-complexity N-terminal leader	Generic N‑terminal leader/presequence segments: short, positively charged, Ser/Thr/Ala/Gly/Pro‑rich, low‑complexity stretches immediately after the initiator Met that are typically disordered and precede the first folded domain; in eukaryotes these correspond to mitochondrial/chloroplast transit peptides, and in prokaryotes/viruses they appear as analogous basic N‑terminal leaders used for targeting/processing.	3.88	52
#9946	Disordered N-termini and coils	Detector for intrinsically disordered, low-structure N‑terminal pre-sequences (signal peptides’ N/C regions, organellar transit peptides, and propeptides) and, more generally, flexible coil/low‑pLDDT segments; strongest bias for the first 10–70 residues but can also mark internal loops in large enzymes and short low‑complexity micropeptides.	3.88	4
#7553	Eukaryotic N-terminal disordered regulatory tails	Eukaryotic N-terminal intrinsically disordered, low-complexity segments of diverse composition (often including S/P/T/G runs, acidic/basic stretches, or proline clusters) that act as regulatory tails/linkers for phosphorylation-dependent signaling and protein–protein interactions.	3.86	23
#3670	Terminal disordered peptide detector	Short unstructured peptides and N-terminal/C-terminal segments of larger proteins; occasional firing near N-terminal leader/signal sequences and basic targeting motifs (e.g., NLS); broadly residue-tolerant with bias toward hydrophobic, Gly/Pro, and basic residues; appears in viral accessory proteins, microproteins, and secreted precursors but also in diverse bacterial/archaeal enzymes, with sparse activation overall.	3.68	3
#654	Long low-complexity IDRs	Long, low-complexity intrinsically disordered regions (IDRs), typically enriched in S/P/Q/E/A/G and frequently occupying extended N‑terminal segments that serve as propeptides, transcriptional activation domains, flexible linkers, or receptor tails/stalks; activation drops sharply in adjacent folded motifs (coiled-coils, globular domains, zinc-finger/Ig-like modules, BH3 helix).	3.63	54
#6866	Arrestin adaptor IDR activation	Broad, whole-protein activation on yeast cytosolic adapter/regulatory proteins, with particularly strong enrichment in arrestin-related trafficking adapters and related ubiquitin-ligase binding proteins	3.62	44
#11676	Disordered Ser/Thr phosphorylation sites	Short linear motifs centered on serine/threonine within intrinsically disordered regions that correspond to eukaryotic Ser/Thr phosphorylation sites (often SP/TP or basic R/K-flanked motifs), used for regulatory control across diverse proteins including viral proteins	3.62	8
#7338	Amphipathic coiled-coil helices	Coiled-coil–like amphipathic alpha-helices with heptad-repeat character (hydrophobic a/d layers often L/A and charged/polar e/g positions enriched in E/Q/K/R/S/T), as found in long dimeric/oligomeric scaffolds, adaptors, and motor tails; the signal also extends to shorter amphipathic helices in peptide precursors.	3.61	8
#13508	Secreted and viral disordered loops	Residue-level detector of bioactive/disordered segments in secreted/extracellular proteins and virion assembly proteins, highlighting the mature peptide core of small disulfide‑rich toxins/antimicrobial peptides and the flexible extracellular or assembly/reactive loops (including viral envelope, capsid, and scaffolding proteins), often marking key functional residues within low-structure regions	3.60	3
#3604	Acidic Pro/Ser-rich disordered regions	Proline/serine-rich low-complexity and disordered regions, frequently with acidic/PEST-like character; the feature also fires on small proteins and on internal stretches outside obvious low-complexity tracts when local Pro/Arg/Ser content is high.	3.53	2
#5482	N-terminal targeting presequences	Universal eukaryotic N-terminal targeting presequences: the feature detects short, cleavable leader regions at the extreme N-terminus that direct proteins to organelles or the secretory pathway—especially chloroplast/apicoplast transit peptides and thylakoid lumen signals, but also mitochondrial targeting peptides and classical signal peptides. These segments are Ser/Thr- and small/hydrophobic–rich, enriched in Lys/Arg and depleted of acidic residues, typically low-structure/low-confidence and ending at the maturation cleavage site.	3.42	2
#16265	S/T-rich low-complexity regions	Composition-driven detection of intrinsically disordered, low‑complexity segments—especially serine/threonine–rich stretches with interspersed Pro/Gly and small hydrophobics, and often including basic (Lys/Arg) residues—commonly found in secreted/extracellular proteins and short basic accessory or micropeptides, rather than a specific motif or domain	3.39	6
#8488	Ala/Thr-rich N-terminal disorder	Ala/Thr-enriched composition feature with a bias for low-complexity intrinsically disordered regions and N-terminal prepro/signal-peptide segments; the feature reflects small-residue (A/T, secondarily S/P) composition often in flexible regions but also appears at A/T residues in some structured contexts.	3.34	6

Feature	Label	Description	Activation	Prevalence
#2333	Sparse N-terminal and ECL peaks	A residue-level signal that fires sparsely at a small number of positions per protein, mainly within N-terminal coil-to-strand junctions of structured enzyme cores and within extracellular loops of 7TM receptors. It avoids transmembrane helices, cytoplasmic segments, signal/propeptides, and unstructured tails.	4.93	2
#10500	Helix/coiled-coil boundary detector	Sparse recognition of residues across structured protein scaffolds, with frequent firing in or near long alpha-helices, coiled-coil regions, and helix–coil transition/capping sites—serving as a generic structural feature rather than a catalytic-motif detector, across diverse protein families and taxa.	4.42	2
#1164	Helical Ser/Thr peaks in TPR/coiled-coils	Sharp residue-level activations at S/T (and adjacent acidic) positions embedded in α-helical structured contexts — predominantly C-terminal TPR repeats and long coiled-coil segments — outside of catalytic cores and transmembrane spans.	3.17	2
#1785	RlmK/L dual-motif peaks	Short conserved sequence motifs within bacterial ribosomal RNA large-subunit methyltransferases (RlmK/RlmL family), with peaks on hydrophobic/aromatic residues embedded in two characteristic stretches of the enzyme.	2.93	2
#11070	Aromatic-polar loop micro-motif	Short polar/aromatic micro-motif centered on H or N typically followed by an aromatic (F/Y) and embedded in coils, turns, or short beta-strands; often located in active-site or ligand-binding loops, prominently adjacent to catalytic/binding residues in N-acetylhexosaminidases (GH20) and chitinases, but reused across diverse enzyme folds and outer-membrane transporters.	2.87	2
#1811	Helix boundary capping motifs	Short alpha-helix boundary/capping motifs—helix-to-loop junctions at domain edges and at transmembrane helix termini (membrane interfaces), typically mixing hydrophobics with flanking charged residues and frequent helix breakers (Gly/Pro)	2.86	2
#7922	IPP isomerase FMN-adjacent Pro motif	A family-specific sequence/structure feature concentrated in bacterial isopentenyl-diphosphate delta-isomerases (IPP isomerases, EC 5.3.3.2), activating at a conserved short motif a few residues upstream of the FMN-binding site, typically centered on a proline within a Ser/Thr–Pro–Φ–Tyr/Phe pattern.	2.69	2
#9811	Folded catalytic/interaction domain cores	Structured catalytic/interaction domains within large, IDR-rich fungal signaling and cytoskeletal regulators (e.g., MAPK phosphatases, RhoGAPs, and dynein adaptors), with the feature highlighting the folded domain cores and excluding flanking low‑complexity/disordered regions	2.51	37
#3712	Binding pocket boundary residues	Residue “hotspots” at secondary-structure boundaries inside conserved domains—typically loop/turn or helix/strand-terminus positions that line or flank functional pockets and interfaces (active sites, metal-binding sites, and ligand/protein/DNA-binding grooves) across diverse proteins.	2.43	2
#2586	General beta-strand residue detector	General beta-strand recognition: the feature marks individual residues embedded in well-ordered beta-sheets within structured, beta-rich domains across diverse folds (e.g., alpha-crystallin/sHSP ACD, sliding clamp, glycoside hydrolases, CS/p23, FERM, Rieske). It prefers strand positions with typical side chains (hydrophobic/aromatic and Ser/Thr, with some Lys/Arg), often adjacent to functional sites but not the catalytic/liganding residues themselves, and avoids disordered regions and helices.	2.40	2
#12352	APE-like activation-segment anchor	A conserved short helix/loop substructure at the end of the activation segment of eukaryotic-like protein kinase domains—the APE-like anchor and immediately adjoining C-lobe element that precedes the long αF/αG region—captured across diverse kinases and kinase-like proteins (including inactive/pseudokinase cores).	2.33	2
#10701	Periplasmic gate β-strand junctions	Short beta-strands and strand–coil junctions in structured, solvent-facing domains, enriched in periplasmic/extracellular regions of cell‑envelope proteins with a notable focus on the N‑terminal “gate” regions of bacterial outer‑membrane complexes (e.g., secretin periplasmic N‑domains and TonB‑dependent receptor plugs), but also present in some soluble chaperones/co‑chaperones (periplasmic SurA and cytosolic trigger factor/J‑domain proteins) and eukaryotic luminal/extracellular regions; avoids signal peptides and membrane‑embedded beta‑barrels.	2.04	2
#14515	Gly/Pro-enriched gating loops	Flexible glycine/proline–enriched surface loops and loop–helix/loop–strand junctions (omega‑loop–like segments) in enzymes—predominantly extracytoplasmic/periplasmic hydrolases of amide/ester/peptidoglycan bonds and related secretory transferases—but also present in intracellular amidases and periplasmic molybdopterin oxidoreductases; positioned away from catalytic residues and implicated in substrate‑binding/gating specificity.	2.04	2
#8650	Aromatic wedge binding patches	Short, contiguous, well-structured surface segments enriched in hydrophobic/aromatic residues (often Trp- and Pro-containing, e.g., PW/PWG) that form binding patches. These patches most commonly correspond to the aromatic “wedge” used to engage single-stranded nucleic acids, but the feature also generalizes to analogous helices/strands that bind lipids, metals, or partner proteins.	2.01	2
#876	Beta-strand connector loops	Short strand-connecting beta-turns/loops that link adjacent beta-strands (beta-hairpin or inter-strand connectors), typically enriched in acidic/polar/small residues, often positioned adjacent to ligand/cofactor/catalytic sites across diverse folds	1.99	2
#2191	N-terminal domain core detector	N-terminal “first-domain core” detector: the feature marks the initial structured block of the first globular domain after any leader segment, typically the opening α-helix and the N-terminal half of the ensuing core (often β-rich such as jelly-roll/lectin/C2-like), while de-emphasizing signal peptides, transmembranes, long disordered leaders, and frequently turning off at embedded catalytic/metal-binding motifs.	1.97	4
#15981	Kinase beta-to-alpha N-cap	Structural motif in protein kinase domains: a short β-strand-to-α-helix junction (helix N-cap) at the N-lobe/C-lobe hinge of the catalytic core, typically preceded by a glycine-rich run and featuring S/T or D/E at the N-cap with nearby basic (K/R) and aromatic (Y/F) residues; present across active kinases and pseudokinases in diverse taxa (including viral mimics)	1.97	2
#16221	FKBP PPIase core domain	Core FKBP-type peptidyl‑prolyl cis–trans isomerase (immunophilin) domain: a beta‑strand/loop scaffold around the FKBP active‑site “flap,” as found in SlyD, FkpA, Mip, Trigger factor, and plant chloroplast/thylakoid‑lumen FKBPs. The feature primarily marks glycine/proline‑rich strands and adjacent loops of the FKBP fold, with occasional weaker cross‑activation on structurally similar beta‑sandwich chaperone cores (e.g., small heat‑shock proteins) and some OB‑fold SSBs.	1.97	2
#11831	CENP-V/GFA domain-wide activation	Broad recognition of the CENP-V/GFA zinc-binding domain shared by Centromere protein V and glutathione-dependent formaldehyde-activating enzymes, with diffuse high activation across the entire domain rather than focal targeting of catalytic or metal-ligating residues.	1.90	2
#8530	C-terminal helix-coil tails	Short contiguous segments at the end of α-helices and adjoining coil/loop regions, often near—but not coincident with—catalytic or substrate-binding sites; recurrently includes C-terminal tails of small bacterial proteins.	1.90	2
#2839	Internal sulfatase catalytic motif	A conserved sub-region within the catalytic domain of sulfatases, well downstream of the FGly/Cys active-site loop, that activates around residue ~265–285 in arylsulfatase-family enzymes.	1.90	2
#8466	Active-site nucleophile elbow loops	Short, flexible active-site–adjacent loop segments at beta-strand→alpha-helix junctions, enriched in small/polar residues (Ser/Gly/Ala with frequent Asp/His), often comprising the alpha/beta-hydrolase “nucleophile elbow” (or analogous Ser/Asp/His-bearing loops) that position catalytic nucleophiles/bases; structurally similar connector loops in non-enzymes are also captured.	1.89	2
#14030	Nuclease catalytic contact segment	A short nucleic-acid–interacting micro-segment common to nucleases and nuclease-linked defense proteins: the feature highlights ~10–30-residue loops or short helices that form or flank catalytic sites and phosphate-backbone binding tracks (e.g., around PD-(D/E)XK, HNH, or HEPN motifs).	1.88	2
#9952	Ordered helical assembly scaffold	A broad “ordered helical/assembly scaffold” signature: long, structured segments—often alpha-helical (TM helices, coiled-coils, helical hairpins) and stable cores of ligand/effector-binding domains—that mark architectural elements used for signal transfer and assembly across diverse molecular machines (signaling, secretion, transport, nucleotide/quinone metabolism, and viral replication), rather than specific catalytic micro-motifs.	1.88	2
#11213	Nuclear phospho-regulated Ser/Thr-rich IDRs	Ser/Thr-rich, low-complexity intrinsically disordered regulatory regions (typically N- or C-terminal tails) of nuclear DNA replication/repair and chromatin-associated proteins, enriched for acidic/basic compositional tracts and phosphorylation sites (often S/T–P motifs) that mediate phospho-regulated interactions.	1.81	18
#9444	CATCHR LxxLPxxLxx helical motif	Residue-level detector for a conserved hydrophobic motif (roughly "LxxLPxxLxx") within helical-bundle subunits of multisubunit membrane tethering complexes (CATCHR-family: GARP/EARP, COG, exocyst).	1.80	2
#4367	Aromatic N-terminal beta-strand motif	Short, localized N-terminal motifs in longin-like and related β-rich subunits of membrane trafficking and assembly complexes, with additional firing on internal hydrophobic strand/loop elements in chromosome-segregation and viral structural proteins.	1.79	2
#449	Conserved hydrophobic beta-strand scaffold	Conserved hydrophobic beta-strand scaffold within catalytic enzyme domains—most prominent in PPP-family serine/threonine protein phosphatases (PP2A/PP4/PP6) but also reported in chymotrypsin-like serine proteases, Rossmann-like transferases, and nucleases	1.78	2
#11380	Pro-Gly beta-turn linkers	Short Pro–Gly–containing flexible turn/loop motifs (PG or P…G) that nucleate tight β-turns or kinks, often in extracellular/periplasmic and luminal contexts and within repeat or modular architectures; segments are 10–20 aa, enriched in small/aliphatic residues with frequent P, G, E, and T.	1.76	2
#9627	Short Pro/Gly-rich strand-turn patches	Short, compositionally biased strand/turn segments that nucleate or flank brief secondary‑structure elements (typically beta‑strands with adjacent loops/turns, occasionally short helices), enriched in Pro and Gly together with aliphatic residues (Leu/Ile/Val) and frequent Ser/Thr; these patches occur both within folded beta‑sheet domains and in intrinsically disordered regions (often at coil↔secondary‑structure transitions), and can host linear motifs such as leucine‑rich nuclear export signals or mark the first structured residues after signal‑peptide cleavage.	1.71	4

Feature	Label	Description	Δ activation	Iso act.	Canon act.	Iso prev.	Canon prev.
#9998	Weak N+3 positional cue	Absolute N-terminal positional cue centered near the fourth residue (N+3), independent of amino-acid identity; most often within signal/transit peptides of precursors but also present in non-secreted proteins; the effect is weak and often does not produce a discrete detected site.	+5.09	12.30	7.21	3	2
#1135	Homopolymeric low-complexity tracts	Compositionally biased, low-complexity sequence segments characterized by homopolymeric residue runs; the feature detects local stretches of repeated single amino acids regardless of chemistry (polar, basic, or hydrophobic), most often within disordered or unstructured contexts but also occasionally within folded domains where such runs occur.	+5.01	8.04	3.03	40	7
#10704	N-terminal PEST-like IDRs	Low-complexity, often acidic/proline-rich intrinsically disordered N-terminal tails of intracellular eukaryotic proteins, frequently overlapping annotated PEST-like segments.	+4.85	11.41	6.57	32	12
#6484	Prion-like low-complexity IDRs	Polar low-complexity intrinsically disordered regions (IDRs)—especially Q/N-rich (prion-like) segments and S/T- and glycine-rich tracts with simple SG/TG/PG repeats—typically located in inter-domain linkers and terminal tails of eukaryotic proteins and often harboring Ser/Thr phosphorylation sites.	+4.67	8.43	3.76	53	3
#10977	Early N-terminal disordered patch	Short N-terminal patch at the extreme N-terminus (around residues 5–10), capturing the first distinctive segment of preproteins/precursors and N-terminal disordered tails; residue composition is heterogeneous but frequently polar (Ser/Thr) and/or charged.	+4.56	8.02	3.46	8	4
#10117	Diffuse low-complexity/disorder signature	A broadly tuned signature of disordered/low-complexity-containing proteins: the feature activates diffusely across long stretches of large multi-domain proteins, with residue-level peaks scattered through both folded and disordered segments. It is common in large, repeat-rich extracellular/surface proteins but also marks regions in diverse intracellular proteins.	+3.34	6.04	2.70	70	34
#11753	Cytosolic N-terminal regulatory tails	Cytosolic N-terminal tails and disordered/low-complexity regulatory segments at the extreme N-terminus of eukaryotic signaling proteins, including phosphatases (classical PTPs, PP2C family) and membrane receptors/ion channels. Sequence character is mixed: some tails are Ser/Gly-rich or basic/acidic low-complexity stretches, others are short hydrophobic/charged N-terminal helices preceding a catalytic domain. The feature avoids transmembrane cores, catalytic/active-site loops, metal-binding residues, and well-folded globular interiors.	+3.29	6.16	2.87	66	9
#7583	Short disordered low-complexity segments	Short, intrinsically disordered low-complexity segments—including propeptide regions and other disordered stretches—with a bias toward small (Gly/Pro/Ser/Ala/Asn) and basic (Lys/Arg) residues	+3.16	5.81	2.65	13	5
#678	Sparse terminal residue peaks	Sparse residue-level activations distributed across short proteins and protein segments, with frequent firing in disordered N-terminal/C-terminal tails as well as in some short transmembrane or compact domains	+3.05	4.41	1.36	12	2
#3054	Basic GP/PTS low-complexity tracts	Intrinsically disordered, low‑complexity segments enriched in glycine/proline and serine/threonine, often containing clusters of basic residues (Lys/Arg) and simple repeats; includes PTS- and GP-rich repeats in secreted/processed peptides and extracellular proteins, as well as basic, Ser/Arg‑rich viral and micropeptide regions. Activation requires extended low‑complexity tracts with these compositions; compact or acidic sequences lacking such tracts are typically not activated.	+3.03	4.95	1.91	20	6
#8063	Disordered N-terminal activation window	Short N-terminal disordered segment found in a variety of proteins, including plant chloroplast transit peptides, bacterial prokaryotic ubiquitin-like protein Pup N-termini, anti-sigma factor N-tails, and some small RiPP precursor leaders. The activating region is Ser/Thr/Ala/Pro/Gly/Gln-rich, low in acidic residues, and typically lies in a disordered N-terminal stretch; the feature does not generally mark all transit peptides or all RiPP leaders.	+2.96	6.32	3.35	14	7
#6384	Widespread activation in folded proteins	Proteins showing broad, diffuse activation across large fractions of their sequence, with peaks frequently occurring in folded regions of single-domain or multi-domain enzymes and structural proteins.	+2.79	4.81	2.02	79	23
#6178	Nuclear basic/polar low-complexity IDRs	Intrinsically disordered, low‑complexity regulatory segments of nuclear proteins—especially transcription factors/cofactors, chromatin regulators, RNA/splicing factors, and nuclear RING‑type E3 ligases—enriched in basic (Lys/Arg) and polar (Ser/Pro/Gln/Glu/Gly/Thr) tracts that serve as activation/repression, partner‑binding, or localization (NLS‑like) regions; typically outside folded DNA‑binding/catalytic domains and often overlapping phosphorylation sites or simple helices within IDRs.	+2.64	5.14	2.50	10	2
#13480	Alanine and small-residue enrichment	A sequence-composition feature that detects small, non-aromatic residues—especially alanine—and their enrichment, lighting up individual Ala residues and stretches enriched in A/G/S/T/P/V (alanine-rich, low-complexity segments) irrespective of protein function or secondary structure.	+2.62	7.24	4.62	22	12
#5021	Polybasic intrinsically disordered regions	Low-complexity, often intrinsically disordered regions in short proteins, precursors, and microproteins across taxa, including viral accessory proteins, neuropeptide/hormone precursors, sperm nuclear proteins, flexible enzyme tails/inserts, and antisense-derived/uncharacterized microproteins. Activation is biased toward, but not restricted to, basic (Lys/Arg) clusters, with frequent peaks also at Pro/Ser/Gly residues in disordered context.	+2.61	4.37	1.76	9	3
#4740	Disordered loops and linkers	Low-complexity / flexible regions enriched in polar (Ser/Thr/Asn/Gln), basic (Lys/Arg), and Gly/Pro residues, including disordered linkers, propeptides, surface loops, and flexible segments of membrane and globular proteins across taxa (including viral proteins, small secreted peptide precursors, and membrane-protein cytosolic loops)	+2.57	4.75	2.18	8	6
#5437	Coiled-coils and propeptide spacers	Long α-helical coiled-coil regions of large scaffold/structural proteins, plus the propeptide/spacer regions of secreted neuropeptide and prohormone precursors. The feature responds to heptad-repeat coiled-coil sequence character (typically with R/K-X-X-L/E patterns and charged residues in a/d/e/g positions) and to short polar/charged propeptide segments flanking dibasic cleavage sites.	+2.51	4.52	2.01	25	7
#2504	Acidic SLiM-rich disordered regions	Acidic/serine- and proline-rich intrinsically disordered regions (low-complexity, SLiM-bearing segments) in metazoan regulatory and scaffold proteins, especially linker/activation and interaction regions rather than folded domains	+2.48	5.63	3.15	24	11
#14891	Disordered termini and cleavage detector	Residue-level detector of intrinsically disordered, flexible termini and proteolytic processing junctions—especially N-termini (including the first residue of the mature chain after propeptide/leader cleavage)—with no strict amino‑acid specificity and a bias toward small/charged residues; common in small, secreted/precursor and viral proteins but also present in disordered regions of diverse proteins.	+2.46	5.05	2.60	14	3
#1260	Disordered low-complexity basic segments	Broadly distributed feature with notable but non-exclusive enrichment in compositionally biased, intrinsically disordered low-complexity regions (LCRs), including Gly/Ser/Pro-rich and Arg/Lys-rich tracts or simple repeats.	+2.45	5.23	2.79	25	11
#6125	Disordered PTM/cleavage SLiMs	Short linear motifs in intrinsically disordered/low-complexity regions, often S/T/P/G- and aromatic-rich, that include proteolytic-processing/PTM hotspots and flexible linkers adjacent to transmembrane segments; the feature favors flexible coils or short amphipathic helices and systematically avoids hydrophobic transmembrane cores	+2.40	4.46	2.06	8	6
#2895	Motif-and-repeat sequence detector	Sequence-pattern detector that responds most strongly to bacterial helix-turn-helix DNA-binding motifs, particularly the C-terminal HTH of sigma-54-dependent response regulators and related HTH-type transcription factors, and also to (i) dibasic Lys/Arg convertase cleavage motifs and residues flanking amidated peptides in secreted prohormone/peptide precursors, (ii) Gly–X–Y/proline-rich collagen-like repeats (including hydroxyproline sites), (iii) hydrophobic a/d positions in coiled-coil heptads of long scaffolds, and (iv) PTM-prone Ser/Thr embedded in Lys/Arg-rich disordered tails of chromatin/DNA-binding proteins. The unifying concept is recognition of short DNA-binding/processing/PTM motifs and repetitive/low-complexity sequence context used across diverse proteins.	+2.31	4.47	2.16	12	3
#12620	Disordered low-complexity regions	Intrinsically disordered, low‑complexity, compositionally biased regions/tails (IDRs), typically enriched in Ser/Gly/Pro/Ala/Thr and often occurring as acidic (Asp/Glu) or basic (Arg/Lys) tracts or Gln/Asn‑/Gln‑rich repeats; these segments are common in secreted precursors, viral proteins, micropeptides, and testis‑associated proteins, and can also occur as low‑complexity termini or surface loops appended to otherwise folded enzymes; they frequently coincide with low predicted structural confidence.	+2.24	4.80	2.57	28	7
#6356	Ser/Gly/Pro-rich low-complexity IDRs	Often fires on intrinsically disordered, low-complexity regions (IDRs) enriched in Ser/Gly/Pro and basic (Lys/Arg) residues, frequently in secreted/viral proteins, but also activates on short peptides and small folded proteins with no clear sequence motif. Includes Ser-rich PTM-prone segments within unstructured regions.	+2.24	5.69	3.46	26	12
#3642	Gly/Ala/Pro-rich disordered segments	Glycine/alanine/proline-rich low-complexity stretches, frequently within annotated disordered regions, that share a recurring small-residue context (Gly-Val/Ala-Xaa-Ala/Pro patterns).	+2.17	3.60	1.43	4	2
#14234	Ordered cores and transmembrane helices	Generic preference for ordered chain regions of folded proteins, with particularly strong responses in hydrophobic α-helices that span membranes; avoids signal peptides and low-confidence N-terminal precursor regions.	+2.11	7.43	5.32	17	13
#6689	TF terminal disordered regions	Intrinsically disordered, low-complexity regions of eukaryotic proteins—especially the terminal tails and interdomain linkers of transcription factors—enriched in Pro/Gly/Ser and acidic residues, and generally excluded from folded DNA-binding domains.	+2.09	3.87	1.78	21	7
#9005	Unknown generic feature	Unknown generic feature	+5.73	17.25	11.52	221	189
#1803	Unknown generic feature	Unknown generic feature	+5.48	21.45	15.97	287	234
#14534	Unknown generic feature	Unknown generic feature	+2.63	18.20	15.57	289	233

Feature	Label	Description	Activation	Prevalence
#5725	UBC/E2-like fold recognition	UBC/E2-like fold recognition across ubiquitin and ubiquitin-like conjugation systems, capturing catalytically active E2s and inactive homologs (UEV, RWD) and the cognate ESCRT components that harbor them; the signal corresponds to the conserved UBC-core surface, with a bias toward the N-terminal α-helix, and can extend to physicochemically similar acidic, α-helical blocks that mimic this surface	18.22	55
#4992	Small-residue disordered N-terminus	Context-dependent free N-terminus signature: short, disordered amino-terminal stretches beginning with the initiator Met followed by residues compatible with MAP cleavage or N-acetylation (e.g., M–G/A/S/T/V, and other contexts including M–D/E/L); strongest emphasis on small residues at positions 2–3; activation is absent when the native N-terminus is structured or starts with a signal peptide/transmembrane segment.	14.91	2
#10704	N-terminal PEST-like IDRs	Low-complexity, often acidic/proline-rich intrinsically disordered N-terminal tails of intracellular eukaryotic proteins, frequently overlapping annotated PEST-like segments.	11.41	21
#3609	Position-2 N-terminus residue detector	Detector of the identity of the second residue at the extreme N-terminus of proteins, with strongest preference for small residues (especially Ser, Ala, and Gly; also Thr/Pro), i.e., an N-terminal position-2 signal commonly associated with generic, disordered starts and co-translational N-terminus processing	10.88	2
#15815	Basic N-terminal targeting patch	Short, basic/polar N‑terminal leader/transit segment immediately after the initiator methionine (positions ~3–6) — i.e., the positively charged/polar start of signal peptides and organelle transit peptides, and more generally low‑acidic, disordered N‑terminal patches (including occasional cysteine‑rich starts) used for targeting, export, rRNA binding, or membrane topology cues	9.65	4
#6484	Prion-like low-complexity IDRs	Polar low-complexity intrinsically disordered regions (IDRs)—especially Q/N-rich (prion-like) segments and S/T- and glycine-rich tracts with simple SG/TG/PG repeats—typically located in inter-domain linkers and terminal tails of eukaryotic proteins and often harboring Ser/Thr phosphorylation sites.	8.43	51
#13449	Membrane-biased alpha-helix detector	Generic alpha-helix detector with strongest preference for long hydrophobic helices that associate with membranes (transmembrane segments and signal peptides), but also activating on extended coiled-coils and internal alpha-helices in soluble proteins	8.35	2
#1135	Homopolymeric low-complexity tracts	Compositionally biased, low-complexity sequence segments characterized by homopolymeric residue runs; the feature detects local stretches of repeated single amino acids regardless of chemistry (polar, basic, or hydrophobic), most often within disordered or unstructured contexts but also occasionally within folded domains where such runs occur.	8.04	34
#10977	Early N-terminal disordered patch	Short N-terminal patch at the extreme N-terminus (around residues 5–10), capturing the first distinctive segment of preproteins/precursors and N-terminal disordered tails; residue composition is heterogeneous but frequently polar (Ser/Thr) and/or charged.	8.02	5
#12048	Generic secondary-structure context marker	A near-ubiquitous, low-amplitude feature marking generic local secondary-structure context—residues within α-helices, β-strands, and the connecting loops—with a frequent emphasis on helix–coil junctions and domain/linker regions, independent of residue type, function, or taxonomy.	7.90	2
#4012	Proline-directed IDR phosphorylation	Intrinsically disordered Ser/Thr phosphorylation hotspots, with a strong preference for proline‑directed motifs (S/T‑P) characteristic of CDK/MAPK-like kinase targets across diverse eukaryotic regulators and viral phosphoproteins.	7.78	8
#1066	UBC/UEV HPN-loop interface	Strand-helix-loop interaction patch of compact alpha/beta domains, most prominently the UBC/UEV (ubiquitin-conjugating-like) fold where it captures the conserved HPN-loop and adjacent beta-strand/helix that form the partner-binding surface; secondarily, the feature recognizes geometrically analogous beta-strand–helix patches in other interaction/DNA-binding domains (e.g., T-box and EVH1-like).	7.68	54
#627	Generic serine detector	Generic serine detector: the feature marks serine residues, with weaker affinity for threonine (and occasionally proline), and is especially prominent in low-complexity S/T-rich stretches; it is context- and structure-agnostic and does not correspond to a specific functional motif.	7.52	5
#8412	Valine-centered residue detector	Detector that fires on valine residues across diverse sequence contexts, including hydrophobic transmembrane helices and signal peptides as well as Val-containing tandem repeats (elastomeric Gly-rich lamprin-like repeats, Pro/Arg-rich disordered repeats) and isolated Val positions in soluble globular proteins.	7.41	2
#13480	Alanine and small-residue enrichment	A sequence-composition feature that detects small, non-aromatic residues—especially alanine—and their enrichment, lighting up individual Ala residues and stretches enriched in A/G/S/T/P/V (alanine-rich, low-complexity segments) irrespective of protein function or secondary structure.	7.24	10
#7565	Hydrophobic helices and signals	Generic, low-specificity signal for short hydrophobic/alpha-helical stretches with a mild N-terminal bias, encompassing signal/transit peptides, single-pass transmembrane anchors, and coiled-coil helices; also yields weak single-residue responses to hydrophobic/aromatic positions within structured loops and peptide-hormone segments.	7.06	2
#9237	Glycine detector in disordered regions	Residue-identity detector for glycine (G), with a mild bias toward intrinsically disordered/low-complexity segments (often including very N-terminal residues); pan-taxonomic and function-agnostic, but activation is sparse and frequently absent, becoming detectable mainly in glycine-rich low-complexity contexts; occasional weak responses to other small/polar residues.	6.97	14
#13818	N-terminal domain start signal	Start-of-domain signal: the feature detects the transition into the first ordered secondary-structure elements at the N-terminus of a conserved globular domain (often immediately after a signal/transit peptide, lipidation site, or disordered tail), with strongest matches for cyclophilin-type PPIase folds and weaker matches for many other domain starts.	6.80	54
#9000	Glutamate-biased acidic tract detector	Detector of glutamate identity and glutamate-enriched acidic tracts: strong activation on E residues, especially within acidic, low‑complexity/disordered regions; weaker, sporadic responses on D; largely domain-, function-, and taxonomy-agnostic.	6.54	5
#6403	Basic disordered NLS/NA-binding patches	Positively charged, lysine/arginine‑rich intrinsically disordered segments (often at the N‑terminus) that serve as generic nucleic‑acid/chromatin‑binding patches and/or classical nuclear localization signals, frequently flanked by serine/threonine sites for phosphoregulation; prevalent in nuclear and DNA/RNA‑associated proteins, including many nuclear DNA viruses.	6.52	2
#4900	Arginine-rich segments and residues	Arginine residue identity/basic-tract feature: primarily marks arginine (R) residues—and dense arginine-rich, low-complexity segments—independent of protein family, fold, or function; shows a strong bias for R over other residues (occasional weak lysine signal), appearing both in disordered/repetitive regions and on individual R within structured domains or near transmembrane boundaries.	6.46	5
#8063	Disordered N-terminal activation window	Short N-terminal disordered segment found in a variety of proteins, including plant chloroplast transit peptides, bacterial prokaryotic ubiquitin-like protein Pup N-termini, anti-sigma factor N-tails, and some small RiPP precursor leaders. The activating region is Ser/Thr/Ala/Pro/Gly/Gln-rich, low in acidic residues, and typically lies in a disordered N-terminal stretch; the feature does not generally mark all transit peptides or all RiPP leaders.	6.32	12
#11753	Cytosolic N-terminal regulatory tails	Cytosolic N-terminal tails and disordered/low-complexity regulatory segments at the extreme N-terminus of eukaryotic signaling proteins, including phosphatases (classical PTPs, PP2C family) and membrane receptors/ion channels. Sequence character is mixed: some tails are Ser/Gly-rich or basic/acidic low-complexity stretches, others are short hydrophobic/charged N-terminal helices preceding a catalytic domain. The feature avoids transmembrane cores, catalytic/active-site loops, metal-binding residues, and well-folded globular interiors.	6.16	55
#10117	Diffuse low-complexity/disorder signature	A broadly tuned signature of disordered/low-complexity-containing proteins: the feature activates diffusely across long stretches of large multi-domain proteins, with residue-level peaks scattered through both folded and disordered segments. It is common in large, repeat-rich extracellular/surface proteins but also marks regions in diverse intracellular proteins.	6.04	48
#14895	Unknown generic feature	Unknown generic feature	21.47	55
#1803	Unknown generic feature	Unknown generic feature	21.45	55
#14534	Unknown generic feature	Unknown generic feature	18.20	55
#9214	Unknown generic feature	Unknown generic feature	18.14	55
#9005	Unknown generic feature	Unknown generic feature	17.25	55
#9194	Unknown generic feature	Unknown generic feature	15.52	55

Clinical variants

Differential region — N-terminal extension (isoform-unique)

Pos (iso)	AA change	Consequence	Source	Clin. sig.	AF (gnomAD)	Impact	AlphaMissense	ESM-C ΔLLR	Link
2	R→C	missense_variant	gnomAD	—	4.15e-05	—	N/A	-2.80	chr19-531773-C-T
3	S→S	synonymous_variant	gnomAD	—	1.58e-05	—	N/A	0.00	chr19-531778-G-C
4	—	frameshift_variant	gnomAD	—	1.50e-05	LoF	—	—	chr19-531779-GGGTCCCC-G
5	S→S	synonymous_variant	gnomAD	—	3.57e-05	—	N/A	0.00	chr19-531784-C-T
6	P→T	missense_variant	gnomAD	—	1.11e-05	—	N/A	-1.75	chr19-531785-C-A
6	—	inframe_insertion	gnomAD	—	1.31e-04	—	N/A	—	chr19-531787-G-GGGC
6	—	inframe_deletion	gnomAD	—	1.09e-05	—	N/A	—	chr19-531787-GGGCGGC-G
7	—	inframe_deletion	gnomAD	—	4.95e-04	—	N/A	—	chr19-531790-CGGCGGCGGCGGCGCAGAGGAGGAGGCA-C
8	G→S	missense_variant	gnomAD	—	4.84e-04	—	N/A	-1.66	chr19-531791-G-A
8	G→C	missense_variant	gnomAD	—	9.68e-06	—	N/A	-3.16	chr19-531791-G-T
8	—	inframe_deletion	gnomAD	—	1.72e-05	—	N/A	—	chr19-531793-CGGCGGCGGCGCAGAGGAGGAGGCA-C
9	G→D	missense_variant	gnomAD	—	1.57e-05	—	N/A	-3.16	chr19-531795-G-A
10	—	inframe_deletion	gnomAD	—	6.92e-06	—	N/A	—	chr19-531798-GCGGCGCAGAGGAGGAGGCAGGCGGCGGCCC-G
11	G→A	missense_variant	gnomAD	—	6.23e-05	—	N/A	-0.64	chr19-531801-G-C
11	G→G	synonymous_variant	gnomAD	—	5.98e-06	—	N/A	0.00	chr19-531802-C-A
13	E→V	missense_variant	gnomAD	—	1.04e-05	—	N/A	-1.78	chr19-531807-A-T
14	E→G	missense_variant	gnomAD	—	2.30e-05	—	N/A	0.34	chr19-531810-A-G
14	E→D	missense_variant	gnomAD	—	8.66e-06	—	N/A	-1.77	chr19-531811-G-T
15	E→V	missense_variant	gnomAD	—	4.16e-06	—	N/A	-1.61	chr19-531813-A-T
16	A→V	missense_variant	gnomAD	—	7.27e-06	—	N/A	-2.03	chr19-531816-C-T
17	G→R	missense_variant	gnomAD	—	9.02e-05	—	N/A	-0.78	chr19-531818-G-C
18	G→D	missense_variant	gnomAD	—	5.69e-06	—	N/A	-2.48	chr19-531822-G-A
19	G→G	synonymous_variant	gnomAD	—	1.22e-05	—	N/A	0.00	chr19-531826-C-A
19	G→G	synonymous_variant	gnomAD	—	2.44e-05	—	N/A	0.00	chr19-531826-C-T
20	P→S	missense_variant	gnomAD	—	4.68e-06	—	N/A	0.16	chr19-531827-C-T
20	P→H	missense_variant	gnomAD	—	2.20e-06	—	N/A	-2.72	chr19-531828-C-A
20	P→L	missense_variant	gnomAD	—	6.59e-06	—	N/A	-1.22	chr19-531828-C-T
21	G→V	missense_variant	gnomAD	—	6.00e-06	—	N/A	-2.33	chr19-531831-G-T
23	—	frameshift_variant	gnomAD	—	2.33e-05	LoF	—	—	chr19-531836-T-TC
23	—	frameshift_variant	gnomAD	—	1.36e-04	LoF	—	—	chr19-531836-TC-T
23	S→C	missense_variant	gnomAD	—	6.70e-05	—	N/A	-1.52	chr19-531837-C-G
23	S→F	missense_variant	gnomAD	—	7.44e-06	—	N/A	-2.33	chr19-531837-C-T
23	S→S	synonymous_variant	gnomAD	—	1.70e-06	—	N/A	0.00	chr19-531838-C-T
23	S→P	missense_variant	COSMIC	—	—	—	N/A	0.31	COSV99296452
24	P→S	missense_variant	gnomAD	—	3.21e-06	—	N/A	0.27	chr19-531839-C-T
24	P→L	missense_variant	gnomAD	—	6.24e-06	—	N/A	-0.59	chr19-531840-C-T
24	P→P	synonymous_variant	gnomAD	—	3.39e-05	—	N/A	0.00	chr19-531841-C-A
24	P→P	synonymous_variant	gnomAD	—	2.47e-05	—	N/A	0.00	chr19-531841-C-G
24	P→P	synonymous_variant	gnomAD	—	2.87e-04	—	N/A	0.00	chr19-531841-C-T
25	P→T	missense_variant	gnomAD	—	7.41e-06	—	N/A	-1.56	chr19-531842-C-A
25	P→A	missense_variant	gnomAD	—	1.48e-06	—	N/A	0.67	chr19-531842-C-G
25	P→Q	missense_variant	gnomAD	—	2.95e-06	—	N/A	-1.16	chr19-531843-C-A
25	P→R	missense_variant	gnomAD	—	1.48e-06	—	N/A	1.03	chr19-531843-C-G
25	P→L	missense_variant	gnomAD	—	1.48e-05	—	N/A	-1.25	chr19-531843-C-T
26	D→Y	missense_variant	gnomAD	—	1.57e-05	—	N/A	-1.84	chr19-531845-G-T
26	D→E	missense_variant	gnomAD	—	7.03e-06	—	N/A	0.62	chr19-531847-C-A
27	G→S	missense_variant	gnomAD	—	4.09e-06	—	N/A	-0.28	chr19-531848-G-A
27	G→D	missense_variant	gnomAD	—	1.31e-06	—	N/A	-2.50	chr19-531849-G-A
27	—	inframe_deletion	gnomAD	—	2.87e-05	—	N/A	—	chr19-531850-TGCGCGGCCCGGCCCGTCTCGCGAACTCGCGGTGGTC-T
28	A→S	missense_variant	gnomAD	—	1.30e-06	—	N/A	-0.82	chr19-531851-G-T
28	A→G	missense_variant	gnomAD	—	2.43e-05	—	N/A	-0.16	chr19-531852-C-G
28	—	frameshift_variant	gnomAD	—	1.25e-06	LoF	—	—	chr19-531853-G-GCGGCC
29	R→W	missense_variant	gnomAD	—	1.87e-05	—	N/A	-2.44	chr19-531854-C-T
29	R→L	missense_variant	gnomAD	—	2.45e-06	—	N/A	-1.19	chr19-531855-G-T
30	P→R	missense_variant	gnomAD	—	2.34e-06	—	N/A	-0.39	chr19-531858-C-G
30	P→L	missense_variant	gnomAD	—	1.17e-06	—	N/A	-1.91	chr19-531858-C-T
30	P→P	synonymous_variant	gnomAD	—	1.16e-06	—	N/A	0.00	chr19-531859-C-A
30	P→P	synonymous_variant	gnomAD	—	1.16e-06	—	N/A	0.00	chr19-531859-C-G
31	G→S	missense_variant	gnomAD	—	2.28e-06	—	N/A	-0.91	chr19-531860-G-A
31	G→D	missense_variant	gnomAD	—	2.27e-06	—	N/A	-2.42	chr19-531861-G-A
33	S→F	missense_variant	gnomAD	—	1.05e-06	—	N/A	-2.38	chr19-531867-C-T
34	R→C	missense_variant	gnomAD	—	7.16e-06	—	N/A	-2.27	chr19-531869-C-T
34	R→R	synonymous_variant	gnomAD	—	5.02e-06	—	N/A	0.00	chr19-531871-C-T
35	—	frameshift_variant	gnomAD	—	8.74e-05	LoF	—	—	chr19-531872-GA-G
35	E→E	synonymous_variant	gnomAD	—	1.96e-06	—	N/A	0.00	chr19-531874-A-G
36	L→F	missense_variant	gnomAD	—	7.75e-06	—	N/A	-2.25	chr19-531875-C-T
37	A→P	missense_variant	gnomAD	—	1.93e-06	—	N/A	-0.25	chr19-531878-G-C
37	A→S	missense_variant	gnomAD	—	9.66e-06	—	N/A	-1.19	chr19-531878-G-T
37	A→V	missense_variant	gnomAD	—	2.76e-05	—	N/A	-0.80	chr19-531879-C-T
37	A→A	synonymous_variant	gnomAD	—	1.89e-06	—	N/A	0.00	chr19-531880-G-A
37	A→A	synonymous_variant	gnomAD	—	9.46e-07	—	N/A	0.00	chr19-531880-G-T
38	V→V	synonymous_variant	COSMIC	—	—	—	N/A	0.00	COSV108753964
39	—	frameshift_variant	gnomAD	—	2.78e-06	LoF	—	—	chr19-531885-TCGCGCGGCCC-T
39	V→V	synonymous_variant	gnomAD	—	9.22e-06	—	N/A	0.00	chr19-531886-C-T
40	A→A	synonymous_variant	gnomAD	—	2.07e-04	—	N/A	0.00	chr19-531889-G-A
41	R→Q	missense_variant	gnomAD	—	2.10e-05	—	N/A	-1.96	chr19-531891-G-A
41	—	frameshift_variant	gnomAD	—	1.91e-05	LoF	—	—	chr19-531892-GC-G
42	P→S	missense_variant	gnomAD	—	1.82e-05	—	N/A	-0.72	chr19-531893-C-T
42	P→R	missense_variant	gnomAD	—	2.58e-06	—	N/A	-0.09	chr19-531894-C-G
42	P→L	missense_variant	gnomAD	—	2.58e-06	—	N/A	-1.23	chr19-531894-C-T
42	P→P	synonymous_variant	gnomAD	—	1.72e-06	—	N/A	0.00	chr19-531895-C-G
42	P→P	synonymous_variant	gnomAD	—	7.73e-06	—	N/A	0.00	chr19-531895-C-T
43	R→C	missense_variant	gnomAD	—	8.58e-07	—	N/A	-2.50	chr19-531896-C-T
43	R→R	synonymous_variant	gnomAD	—	2.40e-05	—	N/A	0.00	chr19-531898-C-A
43	R→R	synonymous_variant	gnomAD	—	1.65e-06	—	N/A	0.00	chr19-531898-C-T
44	A→V	missense_variant	gnomAD	—	8.24e-07	—	N/A	-2.32	chr19-531900-C-T
45	A→S	missense_variant	gnomAD	—	8.18e-07	—	N/A	-1.23	chr19-531902-G-T
45	A→V	missense_variant	gnomAD	—	8.16e-07	—	N/A	-1.82	chr19-531903-C-T
45	A→A	synonymous_variant	gnomAD	—	6.52e-06	—	N/A	0.00	chr19-531904-T-C
46	P→S	missense_variant	gnomAD	—	2.28e-05	—	N/A	-1.30	chr19-531905-C-T
46	—	inframe_deletion	gnomAD	—	8.14e-07	—	N/A	—	chr19-531905-CCGA-C
46	P→Q	missense_variant	gnomAD	—	8.13e-07	—	N/A	-2.42	chr19-531906-C-A
46	P→P	synonymous_variant	gnomAD	—	4.07e-06	—	N/A	0.00	chr19-531907-G-T
47	T→S	missense_variant	gnomAD	—	2.42e-06	—	N/A	1.48	chr19-531909-C-G
47	T→T	synonymous_variant	gnomAD	—	1.61e-06	—	N/A	0.00	chr19-531910-C-G
47	T→T	synonymous_variant	gnomAD	—	4.02e-06	—	N/A	0.00	chr19-531910-C-T
48	P→A	missense_variant	gnomAD	—	8.03e-07	—	N/A	-0.56	chr19-531911-C-G
48	P→L	missense_variant	gnomAD	—	1.60e-06	—	N/A	-2.02	chr19-531912-C-T
48	P→P	synonymous_variant	gnomAD	—	3.21e-06	—	N/A	0.00	chr19-531913-G-A
49	G→A	missense_variant	gnomAD	—	4.80e-06	—	N/A	0.65	chr19-531915-G-C
49	G→V	missense_variant	gnomAD	—	8.01e-07	—	N/A	-1.33	chr19-531915-G-T
49	—	frameshift_variant	gnomAD	—	8.01e-07	LoF	—	—	chr19-531915-GC-G
49	G→G	synonymous_variant	gnomAD	—	3.20e-06	—	N/A	0.00	chr19-531916-C-G
49	G→G	synonymous_variant	gnomAD	—	4.79e-06	—	N/A	0.00	chr19-531916-C-T
50	P→S	missense_variant	gnomAD	—	2.39e-06	—	N/A	-1.10	chr19-531917-C-T
50	P→H	missense_variant	gnomAD	—	6.37e-06	—	N/A	-3.65	chr19-531918-C-A
50	P→R	missense_variant	gnomAD	—	7.96e-07	—	N/A	-1.05	chr19-531918-C-G
50	P→L	missense_variant	gnomAD	—	1.59e-06	—	N/A	-1.46	chr19-531918-C-T
50	P→P	synonymous_variant	gnomAD	—	7.95e-07	—	N/A	0.00	chr19-531919-C-A
50	P→P	synonymous_variant	gnomAD	—	2.38e-06	—	N/A	0.00	chr19-531919-C-T
51	—	inframe_insertion	gnomAD	—	1.59e-06	—	N/A	—	chr19-531920-T-TCCG
51	S→Y	missense_variant	gnomAD	—	7.94e-07	—	N/A	-3.86	chr19-531921-C-A
52	A→V	missense_variant	gnomAD	—	3.17e-06	—	N/A	-2.16	chr19-531924-C-T
52	A→A	synonymous_variant	gnomAD	—	7.91e-07	—	N/A	0.00	chr19-531925-C-A
52	A→A	synonymous_variant	gnomAD	—	3.72e-04	—	N/A	0.00	chr19-531925-C-T
53	A→P	missense_variant	gnomAD	—	2.37e-06	—	N/A	-1.82	chr19-531926-G-C
53	A→V	missense_variant	gnomAD	—	7.89e-07	—	N/A	-2.71	chr19-531927-C-T
53	A→A	synonymous_variant	gnomAD	—	7.88e-07	—	N/A	0.00	chr19-531928-C-G
53	A→A	synonymous_variant	gnomAD	—	7.88e-07	—	N/A	0.00	chr19-531928-C-T
54	A→A	synonymous_variant	gnomAD	—	1.57e-06	—	N/A	0.00	chr19-531931-C-T

120 variants in the differential region.

Shared canonical core — sequence common to canonical and isoform; AlphaMissense applies here

Pos (iso)	AA change	Consequence	Source	Clin. sig.	AF (gnomAD)	Impact	AlphaMissense	ESM-C ΔLLR	Link
55	M→K	missense_variant	gnomAD	—	7.81e-07	damaging	—	-11.25	chr19-531933-T-A
56	A→S	missense_variant	gnomAD	—	7.79e-07	—	likely_benign (0.08)	-6.68	chr19-531935-G-T
56	A→A	synonymous_variant	gnomAD	—	1.56e-06	—	—	0.00	chr19-531937-T-C
56	A→S	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.08)	-6.68	ClinVar:3264959
57	R→Q	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.16)	-4.32	ClinVar:3264960
58	P→Q	missense_variant	gnomAD	—	7.74e-07	damaging	likely_benign (0.08)	-7.75	chr19-531942-C-A
58	P→R	missense_variant	gnomAD	—	7.74e-07	damaging	likely_benign (0.14)	-10.18	chr19-531942-C-G
58	P→P	synonymous_variant	gnomAD	—	4.65e-06	—	—	0.00	chr19-531943-G-A
59	L→I	missense_variant	gnomAD	—	3.84e-06	damaging	likely_benign (0.08)	-7.90	chr19-531944-C-A
59	L→V	missense_variant	gnomAD	—	7.67e-07	—	likely_benign (0.05)	-6.96	chr19-531944-C-G
60	V→M	missense_variant	gnomAD	—	1.15e-05	—	likely_benign (0.20)	-6.96	chr19-531947-G-A
60	V→A	missense_variant	gnomAD	—	7.66e-07	—	likely_benign (0.13)	-6.84	chr19-531948-T-C
60	V→V	synonymous_variant	gnomAD	—	4.57e-06	—	—	0.00	chr19-531949-G-T
60	V→A	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.13)	-6.84	ClinVar:4650835
60	V→A	missense_variant	COSMIC	—	—	—	likely_benign (0.13)	-6.84	COSV53118206
60	V→V	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53117784
61	P→R	missense_variant	gnomAD	—	7.61e-07	damaging	likely_benign (0.32)	-11.12	chr19-531951-C-G
61	P→L	missense_variant	gnomAD	—	7.61e-07	damaging	likely_benign (0.30)	-9.18	chr19-531951-C-T
61	P→P	synonymous_variant	gnomAD	—	7.61e-07	—	—	0.00	chr19-531952-C-G
64	Q→E	missense_variant	gnomAD	—	7.58e-07	damaging	likely_benign (0.16)	-10.37	chr19-531959-C-G
64	Q→Q	synonymous_variant	gnomAD	—	7.57e-07	—	—	0.00	chr19-531961-G-A
64	Q→H	missense_variant	COSMIC	—	—	—	ambiguous (0.56)	-7.50	COSV53117487
65	K→E	missense_variant	gnomAD	—	7.57e-07	damaging	likely_pathogenic (0.90)	-9.06	chr19-531962-A-G
65	K→N	missense_variant	gnomAD	—	4.54e-06	damaging	likely_pathogenic (0.95)	-8.49	chr19-531964-G-T
66	A→S	missense_variant	gnomAD	—	7.56e-07	damaging	ambiguous (0.50)	-9.37	chr19-531965-G-T
66	A→V	missense_variant	gnomAD	—	1.51e-06	damaging	likely_pathogenic (0.61)	-9.00	chr19-531966-C-T
66	A→A	synonymous_variant	gnomAD	—	3.03e-06	—	—	0.00	chr19-531967-G-A
68	L→L	synonymous_variant	gnomAD	—	7.53e-07	—	—	0.00	chr19-531973-G-A
68	L→L	synonymous_variant	gnomAD	—	1.13e-05	—	—	0.00	chr19-531973-G-T
69	L→L	synonymous_variant	gnomAD	—	3.77e-06	—	—	0.00	chr19-531974-C-T
69	L→R	missense_variant	gnomAD	—	7.53e-07	damaging	ambiguous (0.43)	-9.50	chr19-531975-T-G
71	L→V	missense_variant	gnomAD	—	7.50e-07	damaging	ambiguous (0.51)	-9.62	chr19-531980-C-G
71	L→F	missense_variant	gnomAD	—	1.50e-06	—	likely_benign (0.23)	-7.09	chr19-531980-C-T
71	L→P	missense_variant	gnomAD	—	1.50e-06	damaging	likely_pathogenic (1.00)	-11.06	chr19-531981-T-C
72	—	frameshift_variant	gnomAD	—	1.50e-06	LoF	—	—	chr19-531984-A-AG
72	K→K	synonymous_variant	gnomAD	—	2.24e-06	—	—	0.00	chr19-531985-G-A
73	—	frameshift_variant	gnomAD	—	2.99e-06	LoF	—	—	chr19-531986-G-GA
73	G→E	missense_variant	gnomAD	—	7.46e-07	damaging	ambiguous (0.51)	-9.18	chr19-531987-G-A
73	G→G	synonymous_variant	gnomAD	—	7.46e-07	—	—	0.00	chr19-531988-G-T
75	Q→L	missense_variant	gnomAD	—	7.44e-07	—	likely_benign (0.24)	-7.43	chr19-531993-A-T
76	E→K	missense_variant	gnomAD	—	7.43e-06	damaging	ambiguous (0.50)	-7.96	chr19-531995-G-A
76	E→K	missense_variant	ClinVar	Uncertain significance	—	damaging	ambiguous (0.50)	-7.96	ClinVar:4223245
77	E→K	missense_variant	gnomAD	—	5.94e-06	damaging	likely_pathogenic (0.71)	-10.44	chr19-531998-G-A
77	—	frameshift_variant	gnomAD	—	7.42e-07	LoF	—	—	chr19-531998-G-GAGCC
78	P→Q	missense_variant	gnomAD	—	7.41e-07	damaging	likely_pathogenic (0.84)	-10.44	chr19-532002-C-A
78	P→R	missense_variant	gnomAD	—	2.22e-06	damaging	likely_pathogenic (0.82)	-10.94	chr19-532002-C-G
78	P→L	missense_variant	gnomAD	—	7.41e-07	damaging	likely_pathogenic (0.89)	-9.31	chr19-532002-C-T
78	P→P	synonymous_variant	gnomAD	—	2.96e-06	—	—	0.00	chr19-532003-G-A
78	P→P	synonymous_variant	gnomAD	—	7.40e-07	—	—	0.00	chr19-532003-G-C
79	V→L	missense_variant	gnomAD	—	7.39e-07	damaging	likely_pathogenic (0.67)	-8.50	chr19-532004-G-C
79	V→V	synonymous_variant	gnomAD	—	7.39e-07	—	—	0.00	chr19-532006-C-T
80	E→E	synonymous_variant	gnomAD	—	1.47e-06	—	—	0.00	chr19-532009-G-A
80	E→D	missense_variant	gnomAD	—	2.21e-06	damaging	likely_pathogenic (0.96)	-8.81	chr19-532009-G-C
80	E→D	missense_variant	gnomAD	—	7.37e-07	damaging	likely_pathogenic (0.96)	-8.81	chr19-532009-G-T
81	G→G	synonymous_variant	gnomAD	—	2.21e-06	—	—	0.00	chr19-532012-A-C
82	F→F	synonymous_variant	gnomAD	—	2.21e-06	—	—	0.00	chr19-532015-C-T
83	R→L	missense_variant	gnomAD	—	7.35e-07	damaging	ambiguous (0.39)	-9.66	chr19-532017-G-T
83	R→R	synonymous_variant	gnomAD	—	1.47e-06	—	—	0.00	chr19-532018-C-T
83	—	frameshift_variant	gnomAD	—	7.34e-07	LoF	—	—	chr19-532018-CGT-C
85	T→I	missense_variant	gnomAD	—	7.33e-07	damaging	likely_benign (0.31)	-8.18	chr19-532023-C-T
85	T→T	synonymous_variant	gnomAD	—	7.33e-07	—	—	0.00	chr19-532024-A-G
86	L→L	synonymous_variant	gnomAD	—	7.32e-07	—	—	0.00	chr19-532025-C-T
87	V→M	missense_variant	gnomAD	—	7.32e-07	—	likely_benign (0.27)	-3.69	chr19-532028-G-A
87	V→L	missense_variant	gnomAD	—	7.32e-07	—	likely_benign (0.24)	-4.62	chr19-532028-G-C
87	V→V	synonymous_variant	gnomAD	—	1.46e-06	—	—	0.00	chr19-532030-G-A
88	D→N	missense_variant	gnomAD	—	7.32e-07	—	likely_benign (0.14)	-6.62	chr19-532031-G-A
88	D→G	missense_variant	gnomAD	—	7.32e-07	damaging	likely_benign (0.23)	-8.87	chr19-532032-A-G
88	D→E	missense_variant	gnomAD	—	1.46e-06	—	likely_benign (0.13)	-5.12	chr19-532033-C-G
88	D→N	missense_variant	COSMIC	—	—	—	likely_benign (0.14)	-6.62	COSV53116218
89	E→K	missense_variant	gnomAD	—	1.17e-05	damaging	ambiguous (0.49)	-9.75	chr19-532034-G-A
89	E→E	synonymous_variant	gnomAD	—	4.67e-05	—	—	0.00	chr19-532036-G-A
89	E→D	missense_variant	gnomAD	—	7.30e-07	—	likely_benign (0.08)	-6.19	chr19-532036-G-C
89	E→D	missense_variant	gnomAD	—	2.19e-06	—	likely_benign (0.08)	-6.19	chr19-532036-G-T
89	E→K	missense_variant	COSMIC	—	—	damaging	ambiguous (0.49)	-9.75	COSV99296470
90	G→S	missense_variant	gnomAD	—	3.65e-06	—	likely_benign (0.06)	-6.02	chr19-532037-G-A
90	G→V	missense_variant	gnomAD	—	7.31e-07	damaging	likely_benign (0.18)	-8.67	chr19-532038-G-T
90	G→G	synonymous_variant	gnomAD	—	7.31e-07	—	—	0.00	chr19-532039-C-A
90	G→G	synonymous_variant	gnomAD	—	7.31e-07	—	—	0.00	chr19-532039-C-G
90	G→G	synonymous_variant	gnomAD	—	1.46e-06	—	—	0.00	chr19-532039-C-T
91	D→N	missense_variant	gnomAD	—	7.31e-07	—	likely_benign (0.27)	-7.25	chr19-532040-G-A
91	D→E	missense_variant	gnomAD	—	7.31e-07	damaging	likely_pathogenic (0.71)	-10.37	chr19-532042-T-A
91	D→E	missense_variant	gnomAD	—	7.31e-07	damaging	likely_pathogenic (0.71)	-10.37	chr19-532042-T-G
91	D→Y	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.87)	-12.69	COSV99296439
92	L→Q	missense_variant	gnomAD	—	7.31e-07	damaging	likely_pathogenic (0.86)	-13.94	chr19-532044-T-A
92	L→R	missense_variant	gnomAD	—	3.65e-06	damaging	likely_pathogenic (0.89)	-12.69	chr19-532044-T-G
92	L→L	synonymous_variant	gnomAD	—	1.02e-05	—	—	0.00	chr19-532045-A-G
93	Y→C	missense_variant	gnomAD	—	1.46e-06	damaging	ambiguous (0.43)	-9.50	chr19-532047-A-G
93	Y→F	missense_variant	gnomAD	—	7.30e-07	damaging	likely_benign (0.15)	-9.19	chr19-532047-A-T
94	N→S	missense_variant	gnomAD	—	7.30e-07	—	likely_benign (0.07)	-6.31	chr19-532050-A-G
94	N→N	synonymous_variant	gnomAD	—	6.57e-06	—	—	0.00	chr19-532051-C-T
95	W→*	stop_gained	COSMIC	—	—	LoF	—	—	COSV53117251
97	V→V	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53115899
98	A→T	missense_variant	gnomAD	—	2.92e-06	damaging	likely_pathogenic (0.87)	-8.31	chr19-532061-G-A
98	A→S	missense_variant	gnomAD	—	7.30e-07	damaging	ambiguous (0.44)	-7.65	chr19-532061-G-T
98	A→V	missense_variant	gnomAD	—	2.19e-06	damaging	likely_pathogenic (0.84)	-8.50	chr19-532062-C-T
98	A→A	synonymous_variant	gnomAD	—	7.30e-07	—	—	0.00	chr19-532063-C-A
98	A→V	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_pathogenic (0.84)	-8.50	ClinVar:2273958
98	A→V	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.84)	-8.50	COSV105074737
99	I→I	synonymous_variant	gnomAD	—	9.14e-02	—	—	0.00	chr19-532066-C-T
99	I→I	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53117836
100	—	frameshift_variant	gnomAD	—	7.30e-07	LoF	—	—	chr19-532068-TC-T
100	F→F	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV104571653
101	G→V	missense_variant	gnomAD	—	7.30e-07	damaging	likely_pathogenic (1.00)	-13.12	chr19-532071-G-T
101	G→G	synonymous_variant	gnomAD	—	7.30e-07	—	—	0.00	chr19-532072-G-C
101	—	frameshift_variant	gnomAD	—	1.46e-06	LoF	—	—	chr19-532072-G-GC
101	—	frameshift_variant	gnomAD	—	2.19e-06	LoF	—	—	chr19-532072-GC-G
102	P→S	missense_variant	gnomAD	—	1.46e-06	damaging	likely_pathogenic (0.99)	-9.81	chr19-532073-C-T
102	P→H	missense_variant	gnomAD	—	7.30e-07	damaging	likely_pathogenic (1.00)	-12.87	chr19-532074-C-A
102	P→L	missense_variant	gnomAD	—	1.46e-06	damaging	likely_pathogenic (0.99)	-10.56	chr19-532074-C-T
102	P→P	synonymous_variant	gnomAD	—	1.46e-06	—	—	0.00	chr19-532075-C-T
103	P→S	missense_variant	gnomAD	—	2.92e-06	damaging	likely_pathogenic (0.99)	-8.18	chr19-532076-C-T
103	P→P	synonymous_variant	gnomAD	—	2.19e-06	—	—	0.00	chr19-532078-C-A
103	P→P	synonymous_variant	gnomAD	—	1.46e-06	—	—	0.00	chr19-532078-C-T
103	P→L	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.99)	-9.18	COSV53115992
103	P→P	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV99296214
104	—	frameshift_variant	gnomAD	—	1.46e-06	LoF	—	—	chr19-532079-AAC-A
105	T→T	synonymous_variant	gnomAD	—	1.02e-05	—	—	0.00	chr19-532084-C-T
106	Y→Y	synonymous_variant	gnomAD	—	4.46e-05	—	—	0.00	chr19-532087-C-T
107	Y→Y	synonymous_variant	gnomAD	—	1.47e-06	—	—	0.00	chr19-532090-C-T
108	E→K	missense_variant	gnomAD	—	1.47e-06	damaging	likely_pathogenic (0.95)	-10.25	chr19-532091-G-A
109	G→D	missense_variant	gnomAD	—	1.47e-06	damaging	likely_pathogenic (0.98)	-10.19	chr19-532095-G-A
109	G→G	synonymous_variant	gnomAD	—	2.20e-06	—	—	0.00	chr19-532096-C-A
109	G→G	synonymous_variant	gnomAD	—	7.34e-07	—	—	0.00	chr19-532096-C-G
109	G→G	synonymous_variant	gnomAD	—	1.39e-05	—	—	0.00	chr19-532096-C-T
110	G→G	synonymous_variant	gnomAD	—	1.47e-06	—	—	0.00	chr19-532099-C-T
110	G→G	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53118380
111	Y→Y	synonymous_variant	gnomAD	—	7.37e-07	—	—	0.00	chr19-532102-C-T
112	F→L	missense_variant	gnomAD	—	7.38e-07	damaging	likely_pathogenic (0.99)	-10.37	chr19-532105-C-A
112	F→L	missense_variant	gnomAD	—	7.38e-07	damaging	likely_pathogenic (0.99)	-10.37	chr19-532105-C-G
112	F→F	synonymous_variant	gnomAD	—	1.40e-05	—	—	0.00	chr19-532105-C-T
113	K→R	missense_variant	gnomAD	—	1.48e-06	—	likely_benign (0.19)	-6.12	chr19-532107-A-G
113	K→K	synonymous_variant	gnomAD	—	7.41e-07	—	—	0.00	chr19-532108-G-A
114	A→T	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.97)	-9.19	chr19-535837-G-A
114	A→V	missense_variant	gnomAD	—	2.05e-06	damaging	likely_pathogenic (0.98)	-10.25	chr19-535838-C-T
114	A→A	synonymous_variant	gnomAD	—	3.71e-04	—	—	0.00	chr19-535839-G-A
114	A→A	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-535839-G-C
114	A→V	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.98)	-10.25	COSV53116787
115	R→C	missense_variant	gnomAD	—	2.05e-05	—	likely_benign (0.16)	-6.81	chr19-535840-C-T
115	R→H	missense_variant	gnomAD	—	7.53e-06	—	likely_benign (0.09)	-5.65	chr19-535841-G-A
115	R→R	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-535842-C-T
115	R→C	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.16)	-6.81	ClinVar:4223244
115	R→C	missense_variant	COSMIC	—	—	—	likely_benign (0.16)	-6.81	COSV53116161
116	L→L	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-535845-C-T
117	K→T	missense_variant	gnomAD	—	5.47e-06	damaging	likely_benign (0.25)	-8.10	chr19-535847-A-C
117	K→R	missense_variant	gnomAD	—	6.84e-07	—	likely_benign (0.08)	-3.63	chr19-535847-A-G
117	K→K	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-535848-G-A
119	P→P	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-535854-C-T
119	P→S	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.97)	-9.37	COSV53118129
119	P→P	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53117104
120	I→V	missense_variant	gnomAD	—	1.57e-05	—	likely_benign (0.05)	-6.06	chr19-535855-A-G
120	I→F	missense_variant	gnomAD	—	6.84e-07	damaging	likely_benign (0.17)	-9.68	chr19-535855-A-T
120	I→T	missense_variant	gnomAD	—	6.84e-07	—	likely_benign (0.10)	-7.40	chr19-535856-T-C
120	I→I	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-535857-C-A
120	I→M	missense_variant	gnomAD	—	6.84e-07	damaging	likely_benign (0.07)	-7.56	chr19-535857-C-G
120	I→I	synonymous_variant	gnomAD	—	9.58e-06	—	—	0.00	chr19-535857-C-T
120	I→I	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53117230
121	D→N	missense_variant	gnomAD	—	2.05e-06	damaging	likely_pathogenic (0.66)	-8.06	chr19-535858-G-A
121	D→V	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.98)	-12.12	COSV105074698
122	Y→N	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-13.62	chr19-535861-T-A
122	Y→C	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-11.81	chr19-535862-A-G
122	Y→Y	synonymous_variant	gnomAD	—	4.11e-06	—	—	0.00	chr19-535863-C-T
122	Y→H	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_pathogenic (1.00)	-12.31	ClinVar:4650836
123	P→L	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-11.12	chr19-535865-C-T
123	P→P	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-535866-A-G
124	Y→Y	synonymous_variant	gnomAD	—	6.16e-06	—	—	0.00	chr19-535869-C-T
126	P→T	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-11.81	chr19-535873-C-A
126	—	frameshift_variant	gnomAD	—	1.37e-06	LoF	—	—	chr19-535873-CCA-C
126	P→L	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-10.31	chr19-535874-C-T
126	P→R	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-12.37	COSV104571676
127	P→S	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-10.81	chr19-535876-C-T
127	P→P	synonymous_variant	gnomAD	—	6.84e-06	—	—	0.00	chr19-535878-A-G
128	A→G	missense_variant	gnomAD	—	6.84e-07	damaging	likely_benign (0.23)	-9.00	chr19-535880-C-G
128	A→V	missense_variant	gnomAD	—	3.42e-06	—	likely_benign (0.19)	-7.28	chr19-535880-C-T
128	A→A	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-535881-C-A
128	A→A	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-535881-C-T
128	—	frameshift_variant	gnomAD	—	6.84e-07	LoF	—	—	chr19-535881-CT-C
128	A→T	missense_variant	COSMIC	—	—	—	likely_benign (0.08)	-6.12	COSV53117194
129	F→L	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.97)	-8.50	chr19-535882-T-C
130	R→W	missense_variant	gnomAD	—	4.11e-06	damaging	likely_pathogenic (0.74)	-10.69	chr19-535885-C-T
130	R→Q	missense_variant	gnomAD	—	4.86e-05	damaging	likely_benign (0.21)	-8.25	chr19-535886-G-A
130	R→R	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-535887-G-T
130	R→Q	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_benign (0.21)	-8.25	ClinVar:3998494
130	R→R	synonymous_variant	ClinVar	—	—	—	—	0.00	ClinVar:4444417
130	R→L	missense_variant	ClinVar	—	—	damaging	likely_pathogenic (0.80)	-10.94	ClinVar:4444418
130	R→W	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.74)	-10.69	COSV53118423
130	R→Q	missense_variant	COSMIC	—	—	damaging	likely_benign (0.21)	-8.25	COSV53117018
131	F→F	synonymous_variant	gnomAD	—	1.51e-05	—	—	0.00	chr19-535890-C-T
131	F→F	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53116027
132	L→L	synonymous_variant	gnomAD	—	8.89e-06	—	—	0.00	chr19-535891-C-T
132	L→L	synonymous_variant	gnomAD	—	2.06e-04	—	—	0.00	chr19-535893-G-A
133	T→A	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.70)	-11.00	chr19-535894-A-G
134	K→K	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-535899-G-A
135	M→L	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.68)	-7.31	chr19-535900-A-T
135	M→I	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.92)	-8.19	COSV108753965
136	W→*	stop_gained	gnomAD	—	6.84e-07	LoF	—	—	chr19-535904-G-A
136	W→*	stop_gained	gnomAD	—	6.84e-07	LoF	—	—	chr19-535905-G-A
137	H→R	missense_variant	gnomAD	—	1.37e-06	damaging	likely_pathogenic (1.00)	-11.81	chr19-535907-A-G
137	H→H	synonymous_variant	gnomAD	—	8.21e-06	—	—	0.00	chr19-535908-C-T
138	P→S	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-12.12	chr19-535909-C-T
138	P→R	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-14.12	chr19-535910-C-G
138	P→P	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-535911-T-C
139	N→K	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-11.62	chr19-535914-C-A
139	N→N	synonymous_variant	gnomAD	—	2.74e-06	—	—	0.00	chr19-535914-C-T
140	I→I	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-535917-C-A
140	I→M	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.99)	-11.50	chr19-535917-C-G
141	Y→*	stop_gained	gnomAD	—	6.85e-07	LoF	—	—	chr19-535920-C-G
141	Y→Y	synonymous_variant	gnomAD	—	8.22e-06	—	—	0.00	chr19-535920-C-T
141	Y→C	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.97)	-11.50	COSV99296436
142	E→K	missense_variant	gnomAD	—	1.37e-06	damaging	likely_pathogenic (0.91)	-10.62	chr19-535921-G-A
142	—	frameshift_variant	gnomAD	—	6.84e-07	LoF	—	—	chr19-535921-GA-G
142	E→E	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-535923-G-A
142	E→K	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_pathogenic (0.91)	-10.62	ClinVar:4223247
143	T→K	missense_variant	gnomAD	—	6.89e-07	damaging	likely_pathogenic (0.81)	-10.05	chr19-536244-C-A
143	T→M	missense_variant	gnomAD	—	2.76e-06	damaging	ambiguous (0.45)	-7.68	chr19-536244-C-T
143	—	inframe_deletion	gnomAD	—	6.89e-07	—	—	—	chr19-536244-CGGG-C
143	T→T	synonymous_variant	gnomAD	—	1.46e-03	—	—	0.00	chr19-536245-G-A
143	T→T	synonymous_variant	gnomAD	—	2.07e-06	—	—	0.00	chr19-536245-G-C
143	T→T	synonymous_variant	gnomAD	—	1.24e-05	—	—	0.00	chr19-536245-G-T
143	T→T	synonymous_variant	ClinVar	—	—	—	—	0.00	ClinVar:4444433
144	G→G	synonymous_variant	gnomAD	—	4.13e-06	—	—	0.00	chr19-536248-G-A
144	G→G	synonymous_variant	gnomAD	—	6.88e-07	—	—	0.00	chr19-536248-G-T
144	G→E	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_pathogenic (1.00)	-12.81	ClinVar:4223246
144	G→E	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-12.81	COSV99296367
145	D→H	missense_variant	gnomAD	—	6.88e-07	damaging	likely_pathogenic (0.94)	-10.81	chr19-536249-G-C
145	D→G	missense_variant	gnomAD	—	6.88e-07	damaging	likely_pathogenic (0.95)	-9.93	chr19-536250-A-G
145	D→E	missense_variant	gnomAD	—	6.88e-07	—	ambiguous (0.53)	-5.06	chr19-536251-C-A
145	D→D	synonymous_variant	gnomAD	—	3.37e-05	—	—	0.00	chr19-536251-C-T
145	D→A	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.86)	-10.06	COSV99296304
145	D→D	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53116733
146	V→M	missense_variant	gnomAD	—	1.38e-06	damaging	likely_pathogenic (0.99)	-13.25	chr19-536252-G-A
146	V→L	missense_variant	gnomAD	—	6.88e-07	damaging	likely_pathogenic (0.93)	-11.00	chr19-536252-G-T
146	V→A	missense_variant	gnomAD	—	1.38e-06	damaging	likely_pathogenic (0.99)	-12.00	chr19-536253-T-C
146	V→V	synonymous_variant	gnomAD	—	6.88e-07	—	—	0.00	chr19-536254-G-A
147	C→S	missense_variant	gnomAD	—	6.88e-07	damaging	likely_pathogenic (1.00)	-12.06	chr19-536256-G-C
148	I→I	synonymous_variant	gnomAD	—	6.19e-06	—	—	0.00	chr19-536260-C-A
148	I→I	synonymous_variant	gnomAD	—	1.31e-05	—	—	0.00	chr19-536260-C-T
149	S→S	synonymous_variant	gnomAD	—	6.88e-06	—	—	0.00	chr19-536263-C-T
150	I→I	synonymous_variant	gnomAD	—	3.92e-05	—	—	0.00	chr19-536266-C-T
150	I→I	synonymous_variant	ClinVar	Likely benign	—	—	—	0.00	ClinVar:3488348
150	I→T	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-10.75	COSV53116052
151	L→F	missense_variant	gnomAD	—	1.37e-06	damaging	likely_pathogenic (1.00)	-12.37	chr19-536267-C-T
151	L→P	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-12.31	COSV53116063
152	H→Q	missense_variant	gnomAD	—	6.86e-07	damaging	likely_pathogenic (1.00)	-12.12	chr19-536272-C-G
152	H→P	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-11.81	COSV53115911
153	P→L	missense_variant	gnomAD	—	2.06e-06	damaging	likely_pathogenic (0.83)	-9.50	chr19-536274-C-T
153	P→P	synonymous_variant	gnomAD	—	2.74e-05	—	—	0.00	chr19-536275-G-A
153	P→S	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.62)	-8.06	COSV104571657
154	P→L	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.99)	-10.94	chr19-536277-C-T
154	P→P	synonymous_variant	gnomAD	—	6.51e-05	—	—	0.00	chr19-536278-G-A
154	P→P	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-536278-G-T
154	P→Q	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.99)	-12.87	COSV99296263
155	V→M	missense_variant	gnomAD	—	9.59e-05	damaging	ambiguous (0.35)	-8.81	chr19-536279-G-A
155	V→E	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.84)	-13.31	chr19-536280-T-A
155	V→A	missense_variant	gnomAD	—	6.85e-07	damaging	ambiguous (0.55)	-8.81	chr19-536280-T-C
155	V→M	missense_variant	ClinVar	Uncertain significance	—	damaging	ambiguous (0.35)	-8.81	ClinVar:2323973
156	D→Y	missense_variant	gnomAD	—	2.74e-06	damaging	likely_pathogenic (0.93)	-11.81	chr19-536282-G-T
156	D→G	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.88)	-11.62	chr19-536283-A-G
156	D→E	missense_variant	gnomAD	—	4.11e-06	damaging	likely_pathogenic (0.67)	-8.06	chr19-536284-C-G
156	D→D	synonymous_variant	gnomAD	—	4.79e-06	—	—	0.00	chr19-536284-C-T
156	D→D	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV99296220
157	D→N	missense_variant	gnomAD	—	2.05e-06	damaging	likely_pathogenic (0.97)	-9.62	chr19-536285-G-A
157	D→E	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (1.00)	-11.12	chr19-536287-C-A
157	D→D	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-536287-C-T
158	P→H	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.85)	-13.81	chr19-536289-C-A
158	P→P	synonymous_variant	gnomAD	—	4.79e-06	—	—	0.00	chr19-536290-C-G
160	S→G	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.80)	-13.06	chr19-536294-A-G
160	S→S	synonymous_variant	gnomAD	—	4.11e-05	—	—	0.00	chr19-536296-C-T
160	—	frameshift_variant	gnomAD	—	6.85e-07	LoF	—	—	chr19-536296-CG-C
161	G→R	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (1.00)	-10.75	chr19-536297-G-A
161	G→R	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (1.00)	-10.75	chr19-536297-G-C
161	G→E	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (1.00)	-11.81	chr19-536298-G-A
161	G→A	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.98)	-11.94	chr19-536298-G-C
161	G→V	missense_variant	gnomAD	—	1.37e-06	damaging	likely_pathogenic (0.99)	-13.31	chr19-536298-G-T
161	G→G	synonymous_variant	gnomAD	—	2.74e-06	—	—	0.00	chr19-536299-G-A
161	G→R	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_pathogenic (1.00)	-10.75	ClinVar:3829750
161	G→R	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-10.75	COSV99296200
161	G→W	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-14.75	COSV99296211
161	G→E	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-11.81	COSV53116970
162	E→K	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (1.00)	-12.75	chr19-536300-G-A
162	E→*	stop_gained	gnomAD	—	6.85e-07	LoF	—	—	chr19-536300-G-T
162	E→E	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-536302-G-A
163	L→L	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-536305-G-A
164	P→L	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.92)	-9.81	chr19-536307-C-T
164	P→P	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-536308-C-T
165	S→S	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-536311-A-T
165	S→S	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53116775
167	R→G	missense_variant	gnomAD	—	1.37e-06	damaging	likely_pathogenic (1.00)	-13.50	chr19-536315-A-G
167	R→K	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.97)	-12.75	chr19-536316-G-A
168	W→S	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (1.00)	-15.50	chr19-536319-G-C
168	W→G	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-13.06	COSV105074728
168	W→L	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-14.81	COSV53118165
169	—	mnv	COSMIC	—	—	—	—	—	COSV53118327
169	N→K	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-11.81	COSV99296456
170	P→L	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (1.00)	-12.75	chr19-536325-C-T
170	P→S	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-12.06	COSV53117330
170	P→L	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-12.75	COSV99296458
171	T→T	synonymous_variant	gnomAD	—	6.85e-06	—	—	0.00	chr19-536329-G-A
171	T→T	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-536329-G-T
171	T→T	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53116865
172	Q→Q	synonymous_variant	gnomAD	—	6.85e-06	—	—	0.00	chr19-536332-G-A
173	N→H	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.71)	-13.31	chr19-536333-A-C
173	N→S	missense_variant	gnomAD	—	6.85e-07	damaging	likely_benign (0.16)	-8.25	chr19-536334-A-G
173	N→K	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.98)	-12.19	chr19-536335-C-G
173	N→N	synonymous_variant	gnomAD	—	1.72e-04	—	—	0.00	chr19-536335-C-T
174	—	frameshift_variant	gnomAD	—	2.06e-06	LoF	—	—	chr19-536336-GTCAGGTAAGCCGGCCCAACCCCCTGTGTCCACCCAGAACA-G
176	T→I	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-13.12	chr19-537015-C-T
176	T→A	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.97)	-12.06	COSV99296450
176	T→I	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-13.12	COSV53116744
178	L→F	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.97)	-11.87	chr19-537020-C-T
178	L→L	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-537022-C-T
179	L→L	synonymous_variant	gnomAD	—	2.74e-06	—	—	0.00	chr19-537023-C-T
180	S→C	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.99)	-13.50	chr19-537026-A-T
180	S→S	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-537028-T-C
181	V→V	synonymous_variant	gnomAD	—	1.30e-05	—	—	0.00	chr19-537031-G-A
182	I→L	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.74)	-9.81	chr19-537032-A-C
182	I→V	missense_variant	gnomAD	—	6.84e-07	damaging	ambiguous (0.43)	-7.94	chr19-537032-A-G
182	I→I	synonymous_variant	gnomAD	—	4.30e-04	—	—	0.00	chr19-537034-C-A
182	I→M	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.91)	-10.56	chr19-537034-C-G
182	I→I	synonymous_variant	gnomAD	—	4.79e-06	—	—	0.00	chr19-537034-C-T
183	S→C	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.96)	-10.94	chr19-537036-C-G
183	S→F	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-12.44	chr19-537036-C-T
183	S→S	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-537037-C-G
183	S→S	synonymous_variant	gnomAD	—	8.21e-06	—	—	0.00	chr19-537037-C-T
183	—	mnv	COSMIC	—	—	—	—	—	COSV53118226
184	L→F	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-11.44	chr19-537038-C-T
184	L→L	synonymous_variant	gnomAD	—	8.21e-06	—	—	0.00	chr19-537040-C-G
185	L→L	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-537043-G-A
186	N→N	synonymous_variant	gnomAD	—	1.18e-03	—	—	0.00	chr19-537046-C-T
186	N→N	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV99296495
187	E→K	missense_variant	gnomAD	—	2.05e-06	damaging	likely_pathogenic (1.00)	-11.00	chr19-537047-G-A
187	E→K	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-11.00	COSV53117687
188	P→A	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.99)	-12.31	chr19-537050-C-G
188	P→L	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-12.37	chr19-537051-C-T
188	P→P	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-537052-C-T
190	T→I	missense_variant	gnomAD	—	1.37e-06	damaging	likely_pathogenic (0.57)	-11.25	chr19-537057-C-T
190	—	inframe_deletion	gnomAD	—	6.84e-07	—	—	—	chr19-537057-CCTT-C
190	T→T	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-537058-C-T
191	F→I	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.87)	-12.75	chr19-537059-T-A
191	F→Y	missense_variant	gnomAD	—	6.84e-07	damaging	likely_benign (0.13)	-8.31	chr19-537060-T-A
191	F→S	missense_variant	gnomAD	—	1.37e-06	damaging	likely_benign (0.30)	-8.50	chr19-537060-T-C
191	—	inframe_deletion	COSMIC	—	—	—	—	—	COSV99296351
192	S→L	missense_variant	gnomAD	—	2.74e-06	damaging	likely_pathogenic (1.00)	-12.12	chr19-537063-C-T
192	S→S	synonymous_variant	gnomAD	—	1.51e-05	—	—	0.00	chr19-537064-G-A
192	S→S	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-537064-G-T
192	S→L	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-12.12	COSV104571668
193	P→P	synonymous_variant	gnomAD	—	1.03e-05	—	—	0.00	chr19-537067-C-T
193	P→P	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53118273
194	A→T	missense_variant	gnomAD	—	3.42e-06	damaging	likely_pathogenic (1.00)	-10.50	chr19-537068-G-A
194	A→T	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-10.50	COSV53118485
195	N→N	synonymous_variant	gnomAD	—	1.23e-05	—	—	0.00	chr19-537073-C-T
195	N→N	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53116576
196	V→M	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-10.25	chr19-537074-G-A
197	D→D	synonymous_variant	gnomAD	—	1.03e-05	—	—	0.00	chr19-537079-C-T
198	A→T	missense_variant	gnomAD	—	1.37e-06	damaging	likely_pathogenic (1.00)	-12.00	chr19-537080-G-A
198	A→D	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-13.87	chr19-537081-C-A
198	A→A	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-537082-C-T
199	S→S	synonymous_variant	gnomAD	—	4.11e-06	—	—	0.00	chr19-537085-C-A
199	S→S	synonymous_variant	gnomAD	—	8.90e-06	—	—	0.00	chr19-537085-C-T
199	S→F	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (1.00)	-13.56	COSV53116039
199	S→S	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53118387
200	V→M	missense_variant	gnomAD	—	2.05e-06	damaging	likely_pathogenic (0.95)	-10.12	chr19-537086-G-A
200	V→V	synonymous_variant	gnomAD	—	9.58e-06	—	—	0.00	chr19-537088-G-A
200	V→M	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.95)	-10.12	COSV53116615
200	V→L	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.94)	-10.00	COSV53116797
201	M→R	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.97)	-10.87	chr19-537090-T-G
201	M→I	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.99)	-9.94	chr19-537091-G-A
202	Y→Y	synonymous_variant	gnomAD	—	6.16e-06	—	—	0.00	chr19-537094-C-T
203	R→R	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-537097-G-A
203	R→S	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (1.00)	-13.25	chr19-537097-G-T
203	R→R	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV53117206
204	K→R	missense_variant	gnomAD	—	2.74e-06	—	likely_benign (0.10)	-3.81	chr19-537099-A-G
204	K→K	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-537100-G-A
204	K→R	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.10)	-3.81	ClinVar:3140825
205	W→L	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.99)	-12.56	COSV99296236
206	K→K	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-537106-A-G
207	E→E	synonymous_variant	gnomAD	—	2.81e-05	—	—	0.00	chr19-537109-G-A
207	E→D	missense_variant	gnomAD	—	1.37e-06	—	likely_benign (0.09)	-6.37	chr19-537109-G-C
207	E→Q	missense_variant	COSMIC	—	—	damaging	ambiguous (0.55)	-14.37	COSV106337788
208	S→N	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.69)	-5.43	chr19-537111-G-A
208	S→S	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-537112-C-T
208	S→N	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.69)	-5.43	COSV53117872
208	S→I	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.94)	-12.43	COSV107230699
209	K→N	missense_variant	COSMIC	—	—	damaging	ambiguous (0.39)	-8.37	COSV108029097
210	G→G	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-537118-G-A
211	K→E	missense_variant	gnomAD	—	4.11e-06	damaging	likely_benign (0.23)	-7.52	chr19-537119-A-G
211	K→N	missense_variant	gnomAD	—	6.84e-07	damaging	ambiguous (0.54)	-7.70	chr19-537121-G-T
211	K→E	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_benign (0.23)	-7.52	ClinVar:3829751
212	D→N	missense_variant	gnomAD	—	6.84e-07	—	ambiguous (0.50)	-7.22	chr19-537122-G-A
212	D→Y	missense_variant	gnomAD	—	2.05e-06	damaging	likely_pathogenic (0.75)	-11.87	chr19-537122-G-T
212	D→D	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-537124-T-C
213	R→W	missense_variant	gnomAD	—	1.37e-06	damaging	likely_benign (0.25)	-9.17	chr19-537125-C-T
213	R→Q	missense_variant	gnomAD	—	3.49e-05	—	likely_benign (0.08)	-6.64	chr19-537126-G-A
213	R→L	missense_variant	gnomAD	—	2.05e-06	damaging	likely_benign (0.26)	-9.23	chr19-537126-G-T
213	R→R	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-537127-G-A
213	R→Q	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.08)	-6.64	ClinVar:2368086
213	R→L	missense_variant	COSMIC	—	—	damaging	likely_benign (0.26)	-9.23	COSV108029108
214	E→K	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.80)	-11.56	chr19-537128-G-A
214	E→G	missense_variant	gnomAD	—	3.42e-06	damaging	likely_pathogenic (0.69)	-10.06	chr19-537129-A-G
214	E→E	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-537130-G-A
214	E→D	missense_variant	gnomAD	—	1.37e-06	—	ambiguous (0.35)	-7.31	chr19-537130-G-T
215	Y→Y	synonymous_variant	gnomAD	—	6.84e-07	—	—	0.00	chr19-537133-C-T
216	T→I	missense_variant	gnomAD	—	2.26e-05	—	likely_benign (0.16)	-1.87	chr19-537135-C-T
216	T→T	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-537136-A-G
217	—	inframe_deletion	gnomAD	—	1.37e-06	—	—	—	chr19-537138-ACAT-A
218	I→F	missense_variant	gnomAD	—	6.84e-07	damaging	likely_pathogenic (0.66)	-9.99	chr19-537140-A-T
218	I→I	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-537142-C-A
219	I→T	missense_variant	gnomAD	—	2.05e-06	damaging	likely_pathogenic (0.98)	-8.81	chr19-537144-T-C
219	I→I	synonymous_variant	gnomAD	—	2.74e-06	—	—	0.00	chr19-537145-C-A
219	I→I	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-537145-C-T
220	—	frameshift_variant	gnomAD	—	6.85e-07	LoF	—	—	chr19-537146-C-CGGTGAGGGCG
220	R→W	missense_variant	gnomAD	—	6.85e-06	damaging	ambiguous (0.46)	-8.68	chr19-537146-C-T
220	R→Q	missense_variant	gnomAD	—	4.79e-06	—	likely_benign (0.14)	-6.84	chr19-537147-G-A
220	R→R	synonymous_variant	gnomAD	—	7.08e-07	—	—	0.00	chr19-541339-G-C
221	K→E	missense_variant	gnomAD	—	7.07e-07	damaging	likely_pathogenic (0.61)	-8.62	chr19-541340-A-G
221	K→M	missense_variant	gnomAD	—	7.06e-06	damaging	likely_pathogenic (0.71)	-9.81	chr19-541341-A-T
221	K→K	synonymous_variant	gnomAD	—	2.82e-06	—	—	0.00	chr19-541342-G-A
222	Q→E	missense_variant	COSMIC	—	—	damaging	ambiguous (0.54)	-11.25	COSV52742678
223	V→V	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV99198812
224	L→P	missense_variant	gnomAD	—	1.40e-06	damaging	likely_pathogenic (0.91)	-9.87	chr19-541350-T-C
224	—	frameshift_variant	gnomAD	—	6.99e-07	LoF	—	—	chr19-541350-TG-T
225	G→G	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52742198
225	G→G	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52742721
227	K→M	missense_variant	gnomAD	—	1.39e-06	damaging	likely_benign (0.24)	-9.56	chr19-541359-A-T
227	K→K	synonymous_variant	gnomAD	—	8.32e-06	—	—	0.00	chr19-541360-G-A
228	V→A	missense_variant	gnomAD	—	6.93e-07	—	likely_benign (0.06)	-3.27	chr19-541362-T-C
228	V→V	synonymous_variant	gnomAD	—	6.92e-07	—	—	0.00	chr19-541363-G-A
229	D→Y	missense_variant	gnomAD	—	6.92e-07	damaging	likely_pathogenic (0.62)	-11.62	chr19-541364-G-T
229	D→G	missense_variant	gnomAD	—	6.92e-07	damaging	likely_pathogenic (0.69)	-10.50	chr19-541365-A-G
229	D→D	synonymous_variant	gnomAD	—	3.46e-05	—	—	0.00	chr19-541366-C-T
230	A→T	missense_variant	gnomAD	—	2.76e-06	damaging	likely_pathogenic (0.98)	-9.37	chr19-541367-G-A
230	A→E	missense_variant	gnomAD	—	6.90e-07	damaging	likely_pathogenic (1.00)	-13.37	chr19-541368-C-A
230	A→V	missense_variant	gnomAD	—	6.90e-07	damaging	likely_pathogenic (0.98)	-10.00	chr19-541368-C-T
230	A→A	synonymous_variant	gnomAD	—	7.58e-06	—	—	0.00	chr19-541369-G-A
230	A→V	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_pathogenic (0.98)	-10.00	ClinVar:2270762
230	A→T	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.98)	-9.37	COSV52742744
230	A→V	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.98)	-10.00	COSV52742969
230	A→A	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52742077
231	E→E	synonymous_variant	gnomAD	—	6.89e-07	—	—	0.00	chr19-541372-G-A
231	E→D	missense_variant	gnomAD	—	6.89e-07	—	likely_benign (0.15)	-4.61	chr19-541372-G-C
231	E→K	missense_variant	COSMIC	—	—	damaging	likely_benign (0.23)	-10.36	COSV99198838
232	R→C	missense_variant	gnomAD	—	2.75e-06	damaging	likely_benign (0.25)	-9.80	chr19-541373-C-T
232	R→H	missense_variant	gnomAD	—	4.82e-06	damaging	likely_benign (0.14)	-8.12	chr19-541374-G-A
232	R→P	missense_variant	gnomAD	—	6.88e-07	damaging	likely_pathogenic (0.97)	-12.93	chr19-541374-G-C
232	R→R	synonymous_variant	gnomAD	—	6.88e-07	—	—	0.00	chr19-541375-T-G
232	R→C	missense_variant	COSMIC	—	—	damaging	likely_benign (0.25)	-9.80	COSV52742398
232	R→R	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV99198854
233	D→N	missense_variant	gnomAD	—	1.38e-06	damaging	likely_pathogenic (0.87)	-10.31	chr19-541376-G-A
233	D→D	synonymous_variant	gnomAD	—	1.51e-05	—	—	0.00	chr19-541378-C-T
234	G→S	missense_variant	gnomAD	—	1.37e-06	damaging	likely_benign (0.24)	-8.56	chr19-541379-G-A
234	G→C	missense_variant	gnomAD	—	6.87e-07	damaging	ambiguous (0.54)	-10.25	chr19-541379-G-T
234	G→G	synonymous_variant	gnomAD	—	6.87e-07	—	—	0.00	chr19-541381-C-T
235	V→M	missense_variant	gnomAD	—	8.92e-06	damaging	likely_pathogenic (0.68)	-7.56	chr19-541382-G-A
235	V→L	missense_variant	gnomAD	—	6.86e-07	damaging	likely_pathogenic (0.77)	-8.50	chr19-541382-G-T
235	V→V	synonymous_variant	gnomAD	—	6.86e-07	—	—	0.00	chr19-541384-G-A
236	K→Q	missense_variant	gnomAD	—	6.86e-07	damaging	likely_benign (0.11)	-8.24	chr19-541385-A-C
236	K→*	stop_gained	gnomAD	—	6.86e-07	LoF	—	—	chr19-541385-A-T
236	K→R	missense_variant	gnomAD	—	6.87e-07	—	likely_benign (0.08)	-5.37	chr19-541386-A-G
237	V→L	missense_variant	gnomAD	—	1.37e-06	damaging	likely_pathogenic (0.95)	-10.37	chr19-541388-G-T
237	V→V	synonymous_variant	gnomAD	—	4.18e-05	—	—	0.00	chr19-541390-G-A
237	V→V	synonymous_variant	gnomAD	—	2.74e-06	—	—	0.00	chr19-541390-G-C
238	P→A	missense_variant	gnomAD	—	6.86e-07	damaging	likely_pathogenic (0.98)	-12.62	chr19-541391-C-G
238	P→S	missense_variant	gnomAD	—	6.86e-07	damaging	likely_pathogenic (1.00)	-11.62	chr19-541391-C-T
238	P→P	synonymous_variant	gnomAD	—	6.86e-07	—	—	0.00	chr19-541393-C-T
239	T→T	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-541396-C-T
240	T→M	missense_variant	gnomAD	—	2.06e-06	damaging	likely_pathogenic (0.64)	-8.68	chr19-541398-C-T
240	T→T	synonymous_variant	gnomAD	—	1.58e-05	—	—	0.00	chr19-541399-G-A
240	T→A	missense_variant	COSMIC	—	—	damaging	ambiguous (0.48)	-8.99	COSV52741725
240	T→M	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.64)	-8.68	COSV52742017
241	L→V	missense_variant	gnomAD	—	6.85e-07	damaging	likely_benign (0.13)	-9.25	chr19-541400-C-G
241	L→L	synonymous_variant	gnomAD	—	2.06e-06	—	—	0.00	chr19-541402-G-A
241	L→L	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-541402-G-C
242	A→T	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.12)	-5.60	chr19-541403-G-A
242	A→A	synonymous_variant	gnomAD	—	7.81e-05	—	—	0.00	chr19-541405-C-G
242	A→A	synonymous_variant	gnomAD	—	1.51e-05	—	—	0.00	chr19-541405-C-T
243	E→K	missense_variant	gnomAD	—	9.59e-06	damaging	likely_pathogenic (0.92)	-10.62	chr19-541406-G-A
243	E→*	stop_gained	gnomAD	—	6.85e-07	LoF	—	—	chr19-541406-G-T
243	E→A	missense_variant	gnomAD	—	6.85e-07	damaging	likely_pathogenic (0.64)	-9.18	chr19-541407-A-C
243	E→E	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-541408-G-A
243	E→D	missense_variant	gnomAD	—	1.37e-06	—	likely_benign (0.24)	-5.68	chr19-541408-G-C
243	E→K	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_pathogenic (0.92)	-10.62	ClinVar:2615017
243	E→D	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.24)	-5.68	ClinVar:3998497
244	Y→Y	synonymous_variant	gnomAD	—	7.53e-06	—	—	0.00	chr19-541411-C-T
245	C→R	missense_variant	gnomAD	—	2.74e-06	damaging	likely_pathogenic (0.97)	-10.69	chr19-541412-T-C
245	C→C	synonymous_variant	gnomAD	—	2.05e-05	—	—	0.00	chr19-541414-C-T
245	C→Y	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_pathogenic (0.98)	-10.81	ClinVar:3488346
245	C→Y	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.98)	-10.81	COSV52742495
246	V→M	missense_variant	gnomAD	—	7.53e-06	damaging	likely_benign (0.23)	-8.05	chr19-541415-G-A
246	V→M	missense_variant	COSMIC	—	—	damaging	likely_benign (0.23)	-8.05	COSV99198837
247	K→M	missense_variant	COSMIC	—	—	damaging	likely_benign (0.34)	-8.68	COSV108029107
248	T→N	missense_variant	gnomAD	—	1.37e-06	damaging	likely_benign (0.13)	-7.54	chr19-541422-C-A
248	T→S	missense_variant	gnomAD	—	2.05e-06	—	likely_benign (0.11)	-6.38	chr19-541422-C-G
248	T→T	synonymous_variant	gnomAD	—	6.16e-06	—	—	0.00	chr19-541423-C-A
248	T→T	synonymous_variant	gnomAD	—	1.99e-05	—	—	0.00	chr19-541423-C-G
248	T→T	synonymous_variant	gnomAD	—	3.42e-06	—	—	0.00	chr19-541423-C-T
249	K→Q	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.11)	-7.34	chr19-541424-A-C
249	K→E	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.18)	-6.90	chr19-541424-A-G
250	A→T	missense_variant	gnomAD	—	1.37e-06	—	likely_benign (0.06)	0.82	chr19-541427-G-A
250	A→S	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.08)	-4.75	chr19-541427-G-T
250	A→G	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.09)	-5.75	chr19-541428-C-G
250	A→V	missense_variant	gnomAD	—	8.90e-06	—	likely_benign (0.07)	-2.84	chr19-541428-C-T
250	A→A	synonymous_variant	gnomAD	—	2.68e-04	—	—	0.00	chr19-541429-G-A
250	A→V	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.07)	-2.84	ClinVar:2556788
250	A→V	missense_variant	COSMIC	—	—	—	likely_benign (0.07)	-2.84	COSV108029109
251	P→A	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.05)	-6.21	chr19-541430-C-G
251	P→L	missense_variant	gnomAD	—	3.36e-05	—	likely_benign (0.07)	-5.14	chr19-541431-C-T
251	P→P	synonymous_variant	gnomAD	—	4.93e-05	—	—	0.00	chr19-541432-G-A
251	P→L	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.07)	-5.14	ClinVar:3998496
251	P→S	missense_variant	COSMIC	—	—	—	likely_benign (0.09)	-5.71	COSV99198836
252	A→T	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.07)	-4.03	chr19-541433-G-A
252	A→G	missense_variant	gnomAD	—	1.37e-06	—	likely_benign (0.09)	-5.53	chr19-541434-C-G
252	A→V	missense_variant	gnomAD	—	1.16e-05	—	likely_benign (0.06)	-2.34	chr19-541434-C-T
252	A→A	synonymous_variant	gnomAD	—	2.94e-05	—	—	0.00	chr19-541435-G-A
252	A→A	synonymous_variant	gnomAD	—	6.16e-06	—	—	0.00	chr19-541435-G-C
253	P→S	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.07)	-6.10	chr19-541436-C-T
253	P→H	missense_variant	gnomAD	—	6.85e-07	damaging	likely_benign (0.09)	-7.57	chr19-541437-C-A
253	—	inframe_deletion	gnomAD	—	1.37e-06	—	—	—	chr19-541437-CCGACGAGGGCTCAGACCTCTTCTACGACGACTACTACGAGGA-C
253	P→P	synonymous_variant	gnomAD	—	1.18e-04	—	—	0.00	chr19-541438-C-T
253	P→P	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV99198857
254	D→N	missense_variant	gnomAD	—	2.94e-05	—	likely_benign (0.09)	-7.21	chr19-541439-G-A
254	D→D	synonymous_variant	gnomAD	—	3.29e-05	—	—	0.00	chr19-541441-C-T
254	—	frameshift_variant	gnomAD	—	6.85e-07	LoF	—	—	chr19-541441-CG-C
254	D→N	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.09)	-7.21	ClinVar:2204553
255	E→K	missense_variant	gnomAD	—	1.42e-04	damaging	likely_benign (0.11)	-7.98	chr19-541442-G-A
255	E→G	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.09)	-6.07	chr19-541443-A-G
255	E→D	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.07)	-4.04	chr19-541444-G-C
256	G→V	missense_variant	gnomAD	—	6.85e-07	damaging	likely_benign (0.11)	-7.80	chr19-541446-G-T
256	G→G	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-541447-C-T
257	—	frameshift_variant	gnomAD	—	6.85e-07	LoF	—	—	chr19-541448-T-TCAGA
258	D→H	missense_variant	gnomAD	—	6.85e-07	damaging	likely_benign (0.25)	-7.65	chr19-541451-G-C
258	D→G	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.16)	-7.08	chr19-541452-A-G
258	D→E	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.15)	-5.90	chr19-541453-C-A
258	D→D	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-541453-C-T
259	L→F	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.11)	-6.56	chr19-541454-C-T
259	L→L	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-541456-C-T
260	—	inframe_deletion	gnomAD	—	4.11e-06	—	—	—	chr19-541458-TCTA-T
260	—	inframe_deletion	gnomAD	—	6.85e-07	—	—	—	chr19-541458-TCTACGACGACTA-T
260	F→L	missense_variant	gnomAD	—	1.37e-06	—	ambiguous (0.53)	-2.31	chr19-541459-C-A
260	F→L	missense_variant	gnomAD	—	5.48e-06	—	ambiguous (0.53)	-2.31	chr19-541459-C-G
260	F→F	synonymous_variant	gnomAD	—	2.05e-06	—	—	0.00	chr19-541459-C-T
260	F→L	missense_variant	ClinVar	Uncertain significance	—	—	ambiguous (0.53)	-2.31	ClinVar:4650833
260	F→S	missense_variant	COSMIC	—	—	damaging	ambiguous (0.46)	-7.78	COSV52741756
261	Y→D	missense_variant	gnomAD	—	4.59e-05	damaging	likely_benign (0.30)	-9.31	chr19-541460-T-G
261	—	inframe_insertion	gnomAD	—	6.85e-07	—	—	—	chr19-541460-T-TACG
261	—	inframe_deletion	gnomAD	—	2.05e-06	—	—	—	chr19-541460-TACG-T
261	Y→C	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.13)	-5.81	chr19-541461-A-G
261	Y→Y	synonymous_variant	gnomAD	—	8.56e-05	—	—	0.00	chr19-541462-C-T
261	Y→D	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_benign (0.30)	-9.31	ClinVar:3998493
262	D→N	missense_variant	gnomAD	—	1.44e-05	damaging	likely_benign (0.24)	-7.54	chr19-541463-G-A
262	D→H	missense_variant	gnomAD	—	1.37e-04	damaging	likely_pathogenic (0.58)	-9.42	chr19-541463-G-C
262	D→G	missense_variant	gnomAD	—	6.85e-07	damaging	likely_benign (0.26)	-7.83	chr19-541464-A-G
262	D→D	synonymous_variant	gnomAD	—	1.92e-05	—	—	0.00	chr19-541465-C-T
262	D→H	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_pathogenic (0.58)	-9.42	ClinVar:3488345
262	D→N	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_benign (0.24)	-7.54	ClinVar:3998495
262	D→H	missense_variant	COSMIC	—	—	damaging	likely_pathogenic (0.58)	-9.42	COSV52741959
263	D→N	missense_variant	gnomAD	—	1.37e-06	damaging	likely_benign (0.19)	-7.65	chr19-541466-G-A
263	D→Y	missense_variant	gnomAD	—	6.85e-07	damaging	likely_benign (0.28)	-9.31	chr19-541466-G-T
263	—	inframe_deletion	gnomAD	—	1.10e-05	—	—	—	chr19-541466-GACT-G
263	D→V	missense_variant	gnomAD	—	6.85e-07	damaging	ambiguous (0.42)	-10.56	chr19-541467-A-T
263	D→E	missense_variant	gnomAD	—	2.74e-06	—	likely_benign (0.22)	-6.62	chr19-541468-C-A
263	D→D	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-541468-C-T
263	D→Y	missense_variant	COSMIC	—	—	damaging	likely_benign (0.28)	-9.31	COSV52742944
264	Y→D	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.11)	-5.93	chr19-541469-T-G
264	Y→S	missense_variant	gnomAD	—	6.85e-07	damaging	likely_benign (0.12)	-9.12	chr19-541470-A-C
264	Y→C	missense_variant	gnomAD	—	4.11e-06	—	likely_benign (0.10)	-6.49	chr19-541470-A-G
264	Y→*	stop_gained	gnomAD	—	6.85e-07	LoF	—	—	chr19-541471-C-G
265	Y→H	missense_variant	gnomAD	—	6.85e-07	damaging	likely_benign (0.29)	-9.37	chr19-541472-T-C
265	Y→C	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.10)	-6.93	chr19-541473-A-G
265	Y→F	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.11)	-7.47	chr19-541473-A-T
265	Y→*	stop_gained	gnomAD	—	6.85e-07	LoF	—	—	chr19-541474-C-G
265	Y→Y	synonymous_variant	gnomAD	—	7.54e-06	—	—	0.00	chr19-541474-C-T
265	—	inframe_deletion	gnomAD	—	1.37e-06	—	—	—	chr19-541474-CGAGGACGGCGAGGTGGAG-C
266	E→K	missense_variant	gnomAD	—	7.53e-06	damaging	likely_benign (0.21)	-9.21	chr19-541475-G-A
266	E→*	stop_gained	gnomAD	—	2.74e-06	LoF	—	—	chr19-541475-G-T
266	E→G	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.11)	-7.42	chr19-541476-A-G
266	E→D	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.07)	-3.13	chr19-541477-G-C
266	E→Q	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_benign (0.15)	-10.08	ClinVar:4650834
266	E→K	missense_variant	COSMIC	—	—	damaging	likely_benign (0.21)	-9.21	COSV52742485
267	D→N	missense_variant	gnomAD	—	6.85e-07	damaging	likely_benign (0.12)	-7.62	chr19-541478-G-A
267	D→G	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.11)	-7.40	chr19-541479-A-G
267	D→D	synonymous_variant	gnomAD	—	1.64e-05	—	—	0.00	chr19-541480-C-T
267	D→E	missense_variant	COSMIC	—	—	—	likely_benign (0.10)	-5.59	COSV106053548
267	D→D	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52742617
268	G→S	missense_variant	gnomAD	—	7.54e-06	—	likely_benign (0.07)	-5.11	chr19-541481-G-A
268	G→C	missense_variant	gnomAD	—	2.06e-06	—	likely_benign (0.09)	-6.67	chr19-541481-G-T
268	G→V	missense_variant	gnomAD	—	2.06e-06	—	likely_benign (0.09)	-6.51	chr19-541482-G-T
268	G→G	synonymous_variant	gnomAD	—	7.54e-06	—	—	0.00	chr19-541483-C-T
268	G→S	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.07)	-5.11	ClinVar:3488349
268	G→S	missense_variant	COSMIC	—	—	—	likely_benign (0.07)	-5.11	COSV99198803
268	G→G	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52742106
269	E→K	missense_variant	gnomAD	—	3.43e-06	damaging	likely_benign (0.16)	-8.38	chr19-541484-G-A
269	E→K	missense_variant	COSMIC	—	—	damaging	likely_benign (0.16)	-8.38	COSV99198882
270	V→M	missense_variant	gnomAD	—	4.04e-05	—	likely_benign (0.08)	0.41	chr19-541487-G-A
270	V→E	missense_variant	gnomAD	—	6.85e-07	—	likely_benign (0.07)	-4.47	chr19-541488-T-A
270	—	inframe_insertion	gnomAD	—	6.85e-07	—	—	—	chr19-541488-T-TGGA
270	—	inframe_deletion	gnomAD	—	2.74e-06	—	—	—	chr19-541488-TGGA-T
270	V→V	synonymous_variant	gnomAD	—	6.85e-07	—	—	0.00	chr19-541489-G-A
270	V→M	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.08)	0.41	ClinVar:2357425
270	V→V	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52742478
270	V→V	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV99198828
271	E→K	missense_variant	gnomAD	—	2.06e-06	damaging	likely_benign (0.16)	-8.70	chr19-541490-G-A
272	E→K	missense_variant	gnomAD	—	6.86e-07	damaging	likely_benign (0.14)	-7.84	chr19-541493-G-A
272	E→Q	missense_variant	gnomAD	—	6.86e-07	—	likely_benign (0.12)	-6.71	chr19-541493-G-C
272	E→A	missense_variant	gnomAD	—	2.06e-06	—	likely_benign (0.08)	-0.56	chr19-541494-A-C
272	E→G	missense_variant	gnomAD	—	6.86e-07	—	likely_benign (0.07)	-3.49	chr19-541494-A-G
273	E→K	missense_variant	gnomAD	—	1.47e-04	damaging	likely_benign (0.16)	-8.88	chr19-541496-G-A
273	E→A	missense_variant	gnomAD	—	8.23e-06	—	likely_benign (0.09)	-7.35	chr19-541497-A-C
273	E→E	synonymous_variant	gnomAD	—	1.37e-06	—	—	0.00	chr19-541498-G-A
273	E→K	missense_variant	ClinVar	Uncertain significance	—	damaging	likely_benign (0.16)	-8.88	ClinVar:2410995
274	A→D	missense_variant	gnomAD	—	6.86e-07	—	likely_benign (0.07)	-6.53	chr19-541500-C-A
274	A→V	missense_variant	gnomAD	—	7.55e-06	—	likely_benign (0.08)	-4.25	chr19-541500-C-T
274	A→A	synonymous_variant	gnomAD	—	6.86e-07	—	—	0.00	chr19-541501-C-A
274	A→A	synonymous_variant	gnomAD	—	1.51e-05	—	—	0.00	chr19-541501-C-T
274	A→V	missense_variant	COSMIC	—	—	—	likely_benign (0.08)	-4.25	COSV99198823
274	A→A	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52741776
275	D→N	missense_variant	gnomAD	—	1.17e-05	—	likely_benign (0.09)	-5.71	chr19-541502-G-A
275	D→N	missense_variant	COSMIC	—	—	—	likely_benign (0.09)	-5.71	COSV52742922
276	S→G	missense_variant	gnomAD	—	1.37e-06	—	likely_benign (0.06)	-7.09	chr19-541505-A-G
276	S→S	synonymous_variant	gnomAD	—	6.87e-07	—	—	0.00	chr19-541507-C-T
277	C→R	missense_variant	gnomAD	—	6.87e-07	—	likely_benign (0.25)	-7.05	chr19-541508-T-C
278	F→F	synonymous_variant	gnomAD	—	2.20e-05	—	—	0.00	chr19-541513-C-T
278	F→F	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52743389
279	G→R	missense_variant	gnomAD	—	5.50e-06	—	likely_benign (0.19)	-5.61	chr19-541514-G-A
280	D→N	missense_variant	gnomAD	—	2.06e-06	—	likely_benign (0.09)	-5.66	chr19-541517-G-A
280	D→A	missense_variant	gnomAD	—	6.87e-07	—	likely_benign (0.11)	-5.57	chr19-541518-A-C
280	D→E	missense_variant	gnomAD	—	2.06e-06	—	likely_benign (0.08)	-2.75	chr19-541519-C-G
280	D→D	synonymous_variant	gnomAD	—	2.34e-05	—	—	0.00	chr19-541519-C-T
280	D→E	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.08)	-2.75	ClinVar:3140826
281	D→N	missense_variant	gnomAD	—	4.75e-05	—	likely_benign (0.09)	-4.98	chr19-541520-G-A
281	D→Y	missense_variant	gnomAD	—	6.88e-07	damaging	likely_benign (0.12)	-8.01	chr19-541520-G-T
281	D→G	missense_variant	gnomAD	—	6.88e-07	—	likely_benign (0.09)	-6.07	chr19-541521-A-G
281	D→D	synonymous_variant	gnomAD	—	1.38e-06	—	—	0.00	chr19-541522-T-C
281	D→N	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.09)	-4.98	ClinVar:2231100
281	D→N	missense_variant	COSMIC	—	—	—	likely_benign (0.09)	-4.98	COSV52742065
282	E→*	stop_gained	gnomAD	—	3.99e-05	LoF	—	—	chr19-541523-G-T
282	E→G	missense_variant	gnomAD	—	6.88e-07	—	likely_benign (0.08)	-5.90	chr19-541524-A-G
282	E→E	synonymous_variant	gnomAD	—	1.24e-05	—	—	0.00	chr19-541525-G-A
282	E→E	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52743091
283	D→D	synonymous_variant	gnomAD	—	6.89e-07	—	—	0.00	chr19-541528-T-C
284	D→Y	missense_variant	gnomAD	—	1.38e-06	damaging	likely_benign (0.29)	-8.56	chr19-541529-G-T
284	D→G	missense_variant	gnomAD	—	2.07e-06	—	likely_benign (0.26)	-6.59	chr19-541530-A-G
284	—	frameshift_variant	gnomAD	—	9.67e-06	LoF	—	—	chr19-541530-ACT-A
284	D→D	synonymous_variant	gnomAD	—	6.91e-07	—	—	0.00	chr19-541531-C-T
285	S→T	missense_variant	gnomAD	—	6.91e-07	damaging	likely_benign (0.13)	-8.62	chr19-541532-T-A
285	S→C	missense_variant	gnomAD	—	4.15e-06	damaging	likely_benign (0.16)	-10.25	chr19-541533-C-G
286	G→G	synonymous_variant	gnomAD	—	2.77e-06	—	—	0.00	chr19-541537-C-G
287	T→M	missense_variant	gnomAD	—	9.03e-06	—	likely_benign (0.10)	-6.22	chr19-541539-C-T
287	T→T	synonymous_variant	gnomAD	—	2.78e-06	—	—	0.00	chr19-541540-G-A
287	T→T	synonymous_variant	gnomAD	—	3.91e-04	—	—	0.00	chr19-541540-G-C
287	T→M	missense_variant	ClinVar	Uncertain significance	—	—	likely_benign (0.10)	-6.22	ClinVar:3264958
288	E→*	stop_gained	gnomAD	—	6.95e-07	LoF	—	—	chr19-541541-G-T
288	—	frameshift_variant	gnomAD	—	8.34e-06	LoF	—	—	chr19-541542-AGGAGTCCT-A
288	E→Q	missense_variant	COSMIC	—	—	damaging	likely_benign (0.25)	-8.49	COSV105074697
288	E→E	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52743032
289	E→E	synonymous_variant	gnomAD	—	7.00e-07	—	—	0.00	chr19-541546-G-A
290	S→S	synonymous_variant	gnomAD	—	7.03e-07	—	—	0.00	chr19-541549-C-A
290	S→S	synonymous_variant	COSMIC	—	—	—	—	0.00	COSV52741880

656 variants in the shared canonical core.

LoF = frameshift / stop-gain / splice-disrupting — inherently loss-of-function, flagged by consequence (AlphaMissense and ESM-C score only missense/substitutions, so they are blank here by design, not by absence of impact). AlphaMissense is computed in the canonical reading frame, so it scores the shared core but reads N/A across an isoform-unique extension — use ESM-C ΔLLR there.

CDC34 · ENST00000215574.9

Folding

Evidence — click any tile for the differential-region detail

Comparison

Comparison

Comparison

Comparison

Comparison

Comparison

Details

Comparison

Comparison

Comparison

Comparison

Comparison

Comparison

Comparison

Elements and coordinates

Below threshold

Comparison

Comparison

Part 1 · Global feature comparison

Isoform-only features — 134 total (prevalence ≥ 2)

Canonical-only features — 57 total (prevalence ≥ 2)

Shared features by |Δ| activation — 1053 total (prevalence ≥ 2)

Part 2 · Differential coordinates

Unique-region features — 237 distinct (prevalence ≥ 2)

Clinical variants

Differential region — N-terminal extension (isoform-unique)

Shared canonical core — sequence common to canonical and isoform; AlphaMissense applies here