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Genes at Omim

ALG9, ASB10, ASXL3, BAX, BCR, BTNL2, CACNA1S, FSIP2, GP6, HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-G, RAI1, RNASEH2B, RPGRIP1L, RRM2B, SCARF2, SHANK3, SON, TBP, TGIF1, WNK1,
ALG9 Congenital disorder of glycosylation, type Il, 608776 (3)
Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
ASXL3 Bainbridge-Ropers syndrome, 615485 (3)
BAX Colorectal cancer, somatic, 114500 (3)
T-cell acute lymphoblastic leukemia, somatic, 613065 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
CACNA1S {Malignant hyperthermia susceptibility 5}, 601887 (3)
Hypokalemic periodic paralysis, type 1, 170400 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
FSIP2 Spermatogenic failure 34, 618153 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Drug-induced liver injury due to flucloxacillin} (3)
{Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G {Asthma, susceptibility to}, 600807 (2)
RAI1 Smith-Magenis syndrome, 182290 (3)
RNASEH2B Aicardi-Goutieres syndrome 2, 610181 (3)
RPGRIP1L COACH syndrome, 216360 (3)
Joubert syndrome 7, 611560 (3)
Meckel syndrome 5, 611561 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SHANK3 {Schizophrenia 15}, 613950 (3)
Phelan-McDermid syndrome, 606232 (3)
SON ZTTK syndrome, 617140 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

ALG9, ASXL3, BCR, CACNA1S, GP6, HLA-A, HLA-B, RAI1, RNASEH2B, RPGRIP1L, RRM2B, SCARF2, SHANK3, TBP, TGIF1, WNK1, ZNF480,
ALG9 Congenital disorder of glycosylation, type Il
ASXL3 Bainbridge-Ropers syndrome
BCR CML treatment, response to
CACNA1S Malignant hyperthermia susceptibility 5
Thyrotoxic period paralysis, susceptibility 1
Hypokalemic periodic paralysis, type 1
GP6 Bleeding disorder, platelet-type, 11
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
RAI1 Smith-Magenis syndrome
RNASEH2B Aicardi-Goutieres syndrome 2
RPGRIP1L Meckel syndrome 5
Joubert syndrome 7
COACH syndrome
Retinal degeneration in ciliopathy, modifier of
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
SCARF2 Van den Ende-Gupta syndrome
SHANK3 Phelan-McDermid syndrome
Schizophrenia
TBP Spinocerebellar ataxia 17
TGIF1 Holoprosencephaly 4
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 257
Number of Genes: 184

Export to: CSV

ABCA10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 17 rs140723420,rs111599831
dbSNP Clinvar
67190117 10667.9 AAT A . 0/1 79 FRAME_SHIFT HIGH None 0.11582 0.11580 0.11248 None None None None None None ABCA10|0.002179826|90.49%

AC020629.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 12 rs67374165
dbSNP Clinvar
42627994 8317.29 GA... G,... . 1/2 68 FRAME_SHIFT HIGH None 0.71206 0.71210 None None None None None None YAF2|0.376973406|22.26%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 12 rs765954890,rs555060189
dbSNP Clinvar
42627996 5155.86 GA... G,* . 0/2 68 FRAME_SHIFT HIGH None 0.71206 0.71210 None None None None None None YAF2|0.376973406|22.26%

AC068620.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 4 . 57277065 533.33 TA... T . 0/1 15 FRAME_SHIFT HIGH None None None None None None None PPAT|0.443666776|18.5%

ADAMTS7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 15 rs781638345
dbSNP Clinvar
79058183 90.29 T TT... . 0/1 105 FRAME_SHIFT HIGH None 0.02791 None None None None None None ADAMTS7|0.010836867|80.23%

AGAP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs552859803
dbSNP Clinvar
150783908 6265.31 C CG . 1/1 20 FRAME_SHIFT HIGH None 0.99880 0.99880 None None None None None None AGAP3|0.094196358|52.32%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs539642617
dbSNP Clinvar
150783900 6007.31 C CG . 1/1 24 FRAME_SHIFT HIGH None 0.99880 0.99880 0.03750 None None None None None None AGAP3|0.094196358|52.32%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs766984834
dbSNP Clinvar
150783922 7209.31 T TGGGG . 1/1 22 FRAME_SHIFT HIGH None None None None None None None AGAP3|0.094196358|52.32%

AGAP6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 10 rs575835505
dbSNP Clinvar
51748681 51277.9 AC A . 0/1 365 FRAME_SHIFT HIGH None 0.06290 0.06290 None None None None None None AGAP6|0.003119632|88.45%

ALG9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 11 rs10708475
dbSNP Clinvar
111742145 40046.3 CG C . 1/1 193 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ANO7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 2 rs60985508
dbSNP Clinvar
242163365 7116.86 TCA T . 0/1 144 FRAME_SHIFT HIGH None 0.09465 0.09465 0.10623 None None None None None None ANO7|0.004152604|86.8%

AOAH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs57543920
dbSNP Clinvar
36552790 30143.3 G GT . 1/1 149 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs59476355
dbSNP Clinvar
36552729 24861.3 A AT . 1/1 138 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%

ASB10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs759438517
dbSNP Clinvar
150884266 5757.9 CAG C,... . 0/1 122 FRAME_SHIFT HIGH None None None None None None None ASB10|0.051312988|62.24%

ASXL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 18 . 31325884 237.5 T TC . 0/1 56 FRAME_SHIFT HIGH None None None None None None None ASXL3|0.548869749|13.78%

ATG9B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs11393607,rs77573754
dbSNP Clinvar
150713902 26018.3 G GC . 1/1 136 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%

B3GNT6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 11 rs11292199
dbSNP Clinvar
76751584 34863.3 CT C . 1/1 135 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 11 rs11292200,rs796140348
dbSNP Clinvar
76751603 35119.3 CT C . 1/1 146 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00025 None None None None None None B3GNT6|0.006722766|83.81%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 11 rs11292198,rs796338514
dbSNP Clinvar
76751541 24507.3 CT C . 1/1 136 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%

BAX

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 19 rs764401066
dbSNP Clinvar
49464240 4519.86 G GC . 0/1 98 FRAME_SHIFT HIGH None None None None None None None BAX|0.936508307|2.6%

BCR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 22 rs372013175
dbSNP Clinvar
23653975 269.29 T TCCGG . 0/1 121 FRAME_SHIFT HIGH None None None None None None None BCR|0.805888971|5.65%

BTNL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs60740710,rs370253771
dbSNP Clinvar
32370969 7023.86 TG T . 0/1 98 FRAME_SHIFT HIGH None 0.13419 0.13420 0.09159 None None None None None None BTNL2|0.00846386|82.19%

C10orf113

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 10 rs72102767,rs45546236
dbSNP Clinvar
21435340 13616.9 ACACT A . 1/1 78 FRAME_SHIFT HIGH None 0.25160 0.25160 0.19292 None None None None None None NEBL|0.384110937|21.79%,C10orf113|0.004367738|86.51%

C10ORF68

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 10 rs528676800,rs371466318
dbSNP Clinvar
33136818 1403.29 TAA T . 0/1 77 FRAME_SHIFT HIGH None 0.01577 0.01577 0.03340 None None None None None None None

C12orf60

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 12 rs139293175,rs10556010
dbSNP Clinvar
14976417 11577.9 CTA C . 0/1 164 FRAME_SHIFT HIGH None 0.19010 0.19010 0.19048 None None None None None None C12orf60|0.003562818|87.67%

C17orf100

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 17 rs56268735,rs397697335
dbSNP Clinvar
6555546 22445.3 C CG . 1/1 116 FRAME_SHIFT HIGH None 0.99980 0.99980 0.00401 None None None None None None C17orf100|0.00636282|84.22%

C19orf25

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 19 rs144358010
dbSNP Clinvar
1474932 6461.86 TG T . 0/1 118 FRAME_SHIFT HIGH None None None None None None None C19orf25|0.004133103|86.83%

CACNA1S

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 1 rs554596425
dbSNP Clinvar
201009083 9291.86 AG... A . 0/1 147 FRAME_SHIFT HIGH None 0.00499 0.00499 0.00759 None None None None None None CACNA1S|0.323841456|25.88%

CBWD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 9 rs200498038
dbSNP Clinvar
70900911 2064.9 G GA . 0/1 23 FRAME_SHIFT HIGH None 0.49062 0.49060 0.46181 None None None None None None CBWD3|0.033490012|67.95%

CCDC129

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs567140275,rs35589779
dbSNP Clinvar
31697913 2841.86 C CT . 0/1 76 FRAME_SHIFT HIGH None 0.35923 0.35920 None None None None None None CCDC129|0.005928551|84.65%

CCDC150

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 2 rs376590781
dbSNP Clinvar
197531518 129.98 CA C . 0/1 103 FRAME_SHIFT HIGH None 0.10393 None None None None None None CCDC150|0.051856184|62.11%

CD177

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 19 rs782303811
dbSNP Clinvar
43865324 3363.86 A AAG . 1/1 29 FRAME_SHIFT HIGH None None None None None None None CD177|0.000416107|98.86%

CDCP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 1 rs76608277,rs3841798
dbSNP Clinvar
54605318 9189.9 T TG... . 1/2 93 FRAME_SHIFT HIGH None 0.18150 None None None None None None CDCP2|0.053440915|61.64%

CELA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 12 rs148235680
dbSNP Clinvar
51740416 7925.86 C CG . 0/1 83 FRAME_SHIFT HIGH None None None None None None None CELA1|0.06097239|59.6%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 12 rs370927847
dbSNP Clinvar
51740415 8093.86 A AAG . 0/1 80 FRAME_SHIFT HIGH None None None None None None None CELA1|0.06097239|59.6%

CHIA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 1 rs151326722,rs375881947
dbSNP Clinvar
111861782 6038.86 A AT... . 0/1 167 FRAME_SHIFT HIGH None 0.01817 0.01817 None None None None None None CHIA|0.03435619|67.66%

CLECL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 12 rs71045297,rs113222621
dbSNP Clinvar
9885707 27759.3 A AT... . 1/1 112 FRAME_SHIFT HIGH None 0.54872 0.54870 0.43154 None None None None None None CLECL1|0.001440928|93.09%

CNTNAP3B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 9 rs200487787
dbSNP Clinvar
43844264 804.86 CG C . 0/1 91 FRAME_SHIFT HIGH None 0.25080 0.25080 None None None None None None CNTNAP3B|0.003821974|87.27%

COL26A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs36008849,rs398095266
dbSNP Clinvar
101200669 23706.3 A AG . 1/1 104 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00137 None None None None None None COL26A1|0.059520302|60.03%

COPZ2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 17 rs199699704
dbSNP Clinvar
46115072 32361.3 C CG . 1/1 131 FRAME_SHIFT HIGH None 0.99960 0.99960 None None None None None None COPZ2|0.191382819|37.68%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 17 rs201261614
dbSNP Clinvar
46115084 35069.3 T TGG . 1/1 128 FRAME_SHIFT HIGH None 0.99780 0.99780 None None None None None None COPZ2|0.191382819|37.68%

CRIPAK

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 4 rs750778284
dbSNP Clinvar
1388350 47987.3 G GT... . 0/1 433 FRAME_SHIFT HIGH None None None None None None None CRIPAK|0.000914016|95.95%

DCAF7

Omim - GeneCards - NCBI
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 17 rs66502552,rs398031306
dbSNP Clinvar
61660889 19664.3 CG C . 1/1 109 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00026 None None None None None None DCAF7|0.572121444|12.88%

DEFB126

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 20 rs11467417,rs386393058
dbSNP Clinvar
126310 22343.9 ACC A . 0/1 159 FRAME_SHIFT HIGH None 0.43378 None None None None None None DEFB126|0.000084056|99.96%

DHDH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 19 rs3830420,rs397960489
dbSNP Clinvar
49442849 7719.86 T TG . 0/1 187 FRAME_SHIFT HIGH None 0.25479 0.25480 None None None None None None DHDH|0.020170605|74.09%

DHRS1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 14 . 24760095 1813.29 CC... C . 0/1 102 FRAME_SHIFT HIGH None None None None None None None DHRS1|0.040246768|65.68%

DHRS4L2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 14 rs368539076
dbSNP Clinvar
24470690 7694.86 T TA . 0/1 409 FRAME_SHIFT HIGH None 0.03554 0.03554 0.03889 None None None None None None DHRS4L2|0.007168249|83.32%

DUSP13

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 10 rs3832680
dbSNP Clinvar
76858961 13613.9 CT C . 0/1 179 FRAME_SHIFT HIGH None 0.33047 0.33050 None None None None None None DUSP13|0.067435688|58.05%

EPPK1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 8 rs781964811,rs11781942
dbSNP Clinvar
144940779 26661.3 G A,GA . 0/1 255 FRAME_SHIFT HIGH None 0.07947 0.07947 0.11841 1.59 None None None None None None EPPK1|0.004907463|85.91%

FAM71D

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 14 rs151256654
dbSNP Clinvar
67671482 8179.86 C CT . 0/1 211 FRAME_SHIFT HIGH None 0.01358 0.01358 0.01925 None None None None None None FAM71D|0.012788501|78.66%

FGFRL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 4 rs145808953
dbSNP Clinvar
1019054 460.65 CCA C . 0/1 214 FRAME_SHIFT HIGH None None None None None None None FGFRL1|0.054461749|61.34%

FOXD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 5 rs587745355
dbSNP Clinvar
72743299 23514.3 G GGC . 1/1 91 FRAME_SHIFT HIGH None 0.98383 0.98380 0.10000 None None None None None None FOXD1|0.019486664|74.44%

FOXD4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 9 rs754377138
dbSNP Clinvar
117370 9930.86 GCC G . 0/1 293 FRAME_SHIFT HIGH None None None None None None None FOXD4|0.006056969|84.51%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 9 rs773530430
dbSNP Clinvar
117366 9925.86 C CCG . 0/1 300 FRAME_SHIFT HIGH None None None None None None None FOXD4|0.006056969|84.51%

FOXD4L3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 9 . 70918117 825.29 TCA T . 0/1 156 FRAME_SHIFT HIGH None None None None None None None FOXD4L3|0.008743252|81.91%

FSIP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 2 rs35617283,rs397871016
dbSNP Clinvar
186603605 3901.86 A AG . 0/1 125 FRAME_SHIFT HIGH None 0.33846 0.33850 None None None None None None FSIP2|0.007364085|83.17%

GAS2L1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 22 rs34777709,rs397759036,rs397706110
dbSNP Clinvar
29707639 25017.3 G GC . 1/1 118 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00832 None None None None None None GAS2L1|0.022794635|72.8%

GDPD4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 11 rs34784710,rs76229203
dbSNP Clinvar
76954788 2402.86 T TA . 0/1 70 FRAME_SHIFT HIGH None 0.25399 0.25400 0.27081 None None None None None None GDPD4|0.003348907|88.01%

GOLGA6L2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 15 . 23685525 2078.53 GC... G . 0/1 97 FRAME_SHIFT HIGH None None None None None None None GOLGA6L2|0.000844228|96.42%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 15 rs375981990
dbSNP Clinvar
23685541 12464.3 CT C . 0/1 96 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None GOLGA6L2|0.000844228|96.42%

GOLGA6L6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 15 rs756710564
dbSNP Clinvar
20740293 4070.9 TGA T . 0/1 192 FRAME_SHIFT HIGH None None None None None None None None
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 15 rs751112872
dbSNP Clinvar
20740290 4048.9 T TCC . 0/1 189 FRAME_SHIFT HIGH None None None None None None None None

GP6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 19 rs773724485
dbSNP Clinvar
55526103 15796.0 G GCAGA . 0/1 130 FRAME_SHIFT HIGH None None None None None None None GP6|0.001463632|92.98%

GPATCH4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 1 rs72559129
dbSNP Clinvar
156565049 45496.3 A AAC . 1/1 184 FRAME_SHIFT HIGH None 0.99421 0.99420 0.00871 None None None None None None GPATCH4|0.009985342|80.84%

GPR33

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 14 rs58865778,rs769711834
dbSNP Clinvar
31952909 13962.9 TG T . 0/1 190 FRAME_SHIFT HIGH None 0.00539 0.00539 None None None None None None None

GPRC6A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs371464745
dbSNP Clinvar
117113762 28641.3 T TA . 1/1 136 FRAME_SHIFT HIGH None None None None None None None GPRC6A|0.071452609|57.11%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs550458778
dbSNP Clinvar
117113761 28467.3 A AGG . 1/1 136 FRAME_SHIFT HIGH None 0.15935 0.15930 None None None None None None GPRC6A|0.071452609|57.11%

HBZ

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 16 rs757607573
dbSNP Clinvar
203950 528.9 G GGTCC . 0/1 7 FRAME_SHIFT HIGH None None None None None None None HBZ|0.044602128|64.29%,HBM|0.000797697|96.67%

HLA-A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs757867739
dbSNP Clinvar
29911111 10460.9 ACC A . 0/1 140 FRAME_SHIFT HIGH None None None None None None None HLA-A|0.043055872|64.8%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs757622018,rs12721717,rs1059498
dbSNP Clinvar
29911115 28233.9 G C,GAA . 0/2 145 FRAME_SHIFT HIGH None 0.05451 0.41690 -0.61 None None None None None None HLA-A|0.043055872|64.8%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs45576436
dbSNP Clinvar
29912028 1155.86 AG A . 0/1 326 FRAME_SHIFT HIGH None 0.37061 0.37060 0.36783 None None None None None None HLA-A|0.043055872|64.8%

HLA-B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs750527298
dbSNP Clinvar
31324524 39992.3 GCC G . 1/1 104 FRAME_SHIFT HIGH None None None None None None None HLA-B|0.04113834|65.4%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs749557905
dbSNP Clinvar
31324528 41197.4 G GTT . 1/1 105 FRAME_SHIFT HIGH None None None None None None None HLA-B|0.04113834|65.4%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs760342210
dbSNP Clinvar
31324205 840.29 G GCC . 0/1 64 FRAME_SHIFT HIGH None None None None None None None HLA-B|0.04113834|65.4%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs753354858
dbSNP Clinvar
31324207 925.63 AGG A . 0/1 63 FRAME_SHIFT HIGH None None None None None None None HLA-B|0.04113834|65.4%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs375356947
dbSNP Clinvar
31324488 1717.86 C CGGAG . 0/1 106 FRAME_SHIFT HIGH None None None None None None None HLA-B|0.04113834|65.4%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs749699159
dbSNP Clinvar
31324492 1706.86 GC G . 0/1 109 FRAME_SHIFT HIGH None None None None None None None HLA-B|0.04113834|65.4%

HLA-C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs748394002
dbSNP Clinvar
31239111 3565.86 G GCC . 0/1 232 FRAME_SHIFT HIGH None None None None None None None HLA-C|0.028815016|70%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs778339286
dbSNP Clinvar
31239113 3487.86 AGG A . 0/1 236 FRAME_SHIFT HIGH None None None None None None None HLA-C|0.028815016|70%

HLA-DRB1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs28986201
dbSNP Clinvar
32551961 1756.98 G GT . 1/1 16 FRAME_SHIFT HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs9281873
dbSNP Clinvar
32551953 5599.59 CCG C . 1/1 20 FRAME_SHIFT HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs3205588,rs375154056
dbSNP Clinvar
32549402 3666.94 C CT,T . 0/2 82 FRAME_SHIFT HIGH None 0.19180 1.06 None None None None None None HLA-DRB1|0.032266025|68.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs756741350
dbSNP Clinvar
32552133 450.86 CT... C . 0/1 37 FRAME_SHIFT HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs768883657
dbSNP Clinvar
32552140 4979.86 TG T . 1/1 25 FRAME_SHIFT HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs769779152,rs17878703
dbSNP Clinvar
32552137 5121.9 G C,GA . 0/2 36 FRAME_SHIFT HIGH None -4.88 None None None None None None HLA-DRB1|0.032266025|68.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs9269955,rs749085224
dbSNP Clinvar
32552138 5880.9 G C,GTA . 0/2 34 FRAME_SHIFT HIGH None -4.66 None None None None None None HLA-DRB1|0.032266025|68.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs773489989
dbSNP Clinvar
32552144 4360.04 AC A . 1/1 27 FRAME_SHIFT HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs769556955
dbSNP Clinvar
32552129 1384.94 C CA... . 0/1 38 FRAME_SHIFT HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs764153503
dbSNP Clinvar
32551962 1711.98 C CT . 1/1 16 FRAME_SHIFT HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs767010367
dbSNP Clinvar
32552146 4026.86 AG A . 1/1 27 FRAME_SHIFT HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%

HLA-DRB5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs201925120
dbSNP Clinvar
32489754 6433.86 T TCC . 0/1 116 FRAME_SHIFT HIGH None None None None None None None HLA-DRB5|0.020830666|73.74%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs771912768
dbSNP Clinvar
32489745 9399.9 CGG C,GGG . 0/2 98 FRAME_SHIFT HIGH None -1.42 None None None None None None HLA-DRB5|0.020830666|73.74%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs749732952
dbSNP Clinvar
32489755 6414.9 GT G . 0/1 116 FRAME_SHIFT HIGH None None None None None None None HLA-DRB5|0.020830666|73.74%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs770497834
dbSNP Clinvar
32489757 6140.88 CT C . 0/1 117 FRAME_SHIFT HIGH None None None None None None None HLA-DRB5|0.020830666|73.74%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs780712823
dbSNP Clinvar
32497959 4966.86 GCT GA... . 1/2 58 FRAME_SHIFT HIGH None None None None None None None HLA-DRB5|0.020830666|73.74%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs796338972
dbSNP Clinvar
32497960 2928.9 CTT C . 0/1 55 FRAME_SHIFT HIGH None None None None None None None HLA-DRB5|0.020830666|73.74%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs701884,rs749189559
dbSNP Clinvar
32497962 10636.9 T C,TGC . 0/2 54 FRAME_SHIFT HIGH None 0.32722 1.28 None None None None None None HLA-DRB5|0.020830666|73.74%

HLA-G

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 6 rs41557518
dbSNP Clinvar
29796434 11355.9 AC A . 0/1 232 FRAME_SHIFT HIGH None 0.02835 0.02835 0.03094 None None None None None None HLA-G|0.003244426|88.25%

HPR

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 16 rs879092756,rs747070070
dbSNP Clinvar
72107692 620.03 CGT C . 0/1 235 FRAME_SHIFT HIGH None None None None None None None TXNL4B|0.328166529|25.59%,HPR|0.003632563|87.54%

HS3ST6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 16 rs199930198,rs35031350
dbSNP Clinvar
1968338 4489.31 T TC . 1/1 28 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None HS3ST6|0.02545601|71.59%