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EXCLUDE VARIANTS AT VARISNP
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VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

CASP12, CLEC7A, DNAH11, FUT2, HLA-A, HLA-DPB1, HPS4, IGSF3, NDUFB9, PTPRQ,
CASP12 {Sepsis, susceptibility to} (3)
CLEC7A {Aspergillosis, susceptibility to}, 614079 (3)
Candidiasis, familial, 4, autosomal recessive, 613108 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FUT2 {Vitamin B12 plasma level QTL1}, 612542 (3)
{Norwalk virus infection, resistance to} (3)
[Bombay phenotype] (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-DPB1 {Beryllium disease, chronic, susceptibility to} (3)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
NDUFB9 ?Mitochondrial complex I deficiency, 252010 (3)
PTPRQ Deafness, autosomal recessive 84A, 613391 (3)

Genes at Clinical Genomics Database

CLEC7A, DNAH11, HLA-A, HPS4, IGSF3, PTPRQ,
CLEC7A Candidiasis, familial, 4
DNAH11 Ciliary dyskinesia, primary, 7
HLA-A Drug-induced toxicity, susceptibility to
HPS4 Hermansky-Pudlak syndrome 4
IGSF3 Lacrimal duct defect
PTPRQ Deafness, autosomal recessive 84

Genes at HGMD

Summary

Number of Variants: 105
Number of Genes: 90

Export to: CSV

ZNF117

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 mm170241ct 7 rs1404453
dbSNP
64438667 10354.77 G A . 1/1 290 STOP_GAINED HIGH NONSENSE 0.88179 0.88180 0.10150 None None None None None None None

TAS2R46

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 mm170241ct 12 rs2708381
dbSNP
11214145 6628.77 C T . 0/1 473 STOP_GAINED HIGH NONSENSE 0.21186 0.21190 0.22759 None None None None None None None

ZNF717

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 mm170241ct 3 rs79635065
dbSNP
75786827 6386.77 A T . 0/1 358 STOP_GAINED HIGH NONSENSE None None None None None None None

OR4P4

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 mm170241ct 11 rs76160133
dbSNP
55406022 5602.77 C G . 0/1 359 STOP_GAINED HIGH NONSENSE 0.28514 0.28510 0.13421 None None None None None None None

CHST9

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 mm170241ct 18 . 24722740 5565.77 G A . 0/1 362 STOP_GAINED HIGH NONSENSE None None None None None None None

CASP12

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 mm170241ct 11 rs497116
dbSNP
104763117 5156.77 G A . 1/1 142 STOP_GAINED HIGH NONSENSE 0.94848 0.94850 None None None None None None None

MOK

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 mm170241ct 14 rs34931752
dbSNP
102729886 4997.77 G A . 0/1 319 STOP_GAINED HIGH NONSENSE 0.05072 0.05072 0.05591 None None None None None None None

TPTE

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 mm170241ct 21 rs1810540
dbSNP
10942756 4888.77 G A . 0/1 1098 STOP_GAINED HIGH NONSENSE None None None None None None None

FRG1B

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 mm170241ct 20 rs79873624
dbSNP
29625965 4509.77 G A . 0/1 2039 STOP_GAINED HIGH NONSENSE None None None None None None None

TRGV11

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 mm170241ct 7 rs76807453
dbSNP
38331416 4465.77 C T . 1/1 125 STOP_GAINED HIGH NONSENSE 0.07708 0.07708 None None None None None None None

LGALS8

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 mm170241ct 1 rs2273865
dbSNP
236706300 4053.77 T A . 0/1 287 STOP_GAINED HIGH NONSENSE 0.13119 0.13120 0.09165 None None None None None None None

ZNF717

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs113251431
dbSNP
75786256 3788.77 T A . 0/1 407 STOP_GAINED HIGH NONSENSE None None None None None None None
View mm170241ct 3 rs77971486
dbSNP
75788028 3709.77 G C . 0/1 522 STOP_GAINED HIGH NONSENSE None None None None None None None

OR5AR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs11228710
dbSNP
56431216 3685.77 C T . 1/1 99 STOP_GAINED HIGH NONSENSE 0.62300 0.62300 0.42966 None None None None None None None

NACA2

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 mm170241ct 17 rs17610181
dbSNP
59667953 3608.77 G A . 0/1 245 STOP_GAINED HIGH NONSENSE 0.14796 0.14800 0.12133 None None None None None None None

FLG2

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 mm170241ct 1 rs12568784
dbSNP
152323132 3488.77 G T . 1/1 103 STOP_GAINED HIGH NONSENSE 0.31689 0.31690 0.19345 None None None None None None None

RBM48

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 mm170241ct 7 rs67142609
dbSNP
92164318 3388.77 C T . 0/1 301 STOP_GAINED HIGH NONSENSE 0.00040 0.00040 0.02930 None None None None None None None

MAGEB16

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 mm170241ct X rs4829392
dbSNP
35821127 3341.77 C T . 1/1 95 STOP_GAINED HIGH NONSENSE 0.62040 0.62040 0.45504 None None None None None None None

NDUFB9

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 mm170241ct 8 rs6470252
dbSNP
125579990 3158.77 C T . 1/1 90 STOP_GAINED HIGH NONSENSE 0.62460 0.62460 None None None None None None None

CLEC7A

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 mm170241ct 12 rs16910526
dbSNP
10271087 3156.77 A C . 0/1 225 STOP_GAINED HIGH NONSENSE 0.04093 0.04093 0.06113 None None None None None None None

FAM187B

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 mm170241ct 19 rs541169
dbSNP
35719020 2935.77 C T . 1/1 87 STOP_GAINED HIGH NONSENSE 0.31829 0.31830 0.32539 None None None None None None None

MUC19

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 mm170241ct 12 rs10784618
dbSNP
40834955 2840.77 C A . 0/1 200 STOP_GAINED HIGH NONSENSE 0.51837 0.51840 None None None None None None None

IGHV3OR16-13

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 mm170241ct 16 rs2019670
dbSNP
33629700 2734.77 G A . 0/1 229 STOP_GAINED HIGH NONSENSE None None None None None None None

RP11-1407O15.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 . 36352451 2728.77 G A . 0/1 548 STOP_GAINED HIGH NONSENSE None None None None None None None

MS4A12

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 mm170241ct 11 rs2298553
dbSNP
60265002 2618.77 C T . 0/1 187 STOP_GAINED HIGH NONSENSE 0.47824 0.47820 0.45241 None None None None None None None

MUC19

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 mm170241ct 12 rs143195891
dbSNP
40821870 2578.77 C T . 0/1 179 STOP_GAINED HIGH NONSENSE 0.00479 0.00479 None None None None None None None

IGHV3OR16-13

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 mm170241ct 16 rs2002923
dbSNP
33629973 2555.77 G A . 0/1 246 STOP_GAINED HIGH NONSENSE None None None None None None None

ZNF717

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 mm170241ct 3 rs78906544
dbSNP
75786916 2516.77 C A . 0/1 480 STOP_GAINED HIGH NONSENSE None None None None None None None

CDC27

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 mm170241ct 17 rs77685276
dbSNP
45214558 2515.77 G A . 0/1 453 STOP_GAINED HIGH NONSENSE None None None None None None None

UBE2NL

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 mm170241ct X rs237520
dbSNP
142967468 2443.77 T G . 0/1 151 STOP_GAINED HIGH NONSENSE 0.61748 0.61750 0.33314 None None None None None None None

OR10X1

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 mm170241ct 1 rs863362
dbSNP
158549492 2417.77 C T . 0/1 130 STOP_GAINED HIGH NONSENSE 0.50240 0.50240 0.48631 None None None None None None None

MUC3A

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs79874934
dbSNP
100552738 2403.77 C T . 0/1 307 STOP_GAINED HIGH NONSENSE None None None None None None None

HPS4

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 mm170241ct 22 rs3747129
dbSNP
26862041 2375.77 G A . 0/1 142 STOP_GAINED HIGH NONSENSE 0.17931 0.17930 None None None None None None None

SLC22A10

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 mm170241ct 11 rs1790218
dbSNP
63057925 2319.77 G A . 0/1 170 STOP_GAINED HIGH NONSENSE 0.43351 0.43350 0.47938 None None None None None None None

PRIM2

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 mm170241ct 6 rs62398999
dbSNP
57398270 2311.77 C T . 0/1 365 STOP_GAINED HIGH NONSENSE None None None None None None None

OR10D3

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 mm170241ct 11 rs2512227
dbSNP
124056732 2259.77 T G . 1/1 66 STOP_GAINED HIGH NONSENSE 0.49141 0.49140 None None None None None None None

OR5K2

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 mm170241ct 3 rs55639376
dbSNP
98217178 2166.77 T A . 0/1 158 STOP_GAINED HIGH NONSENSE 0.12380 0.12380 0.16741 None None None None None None None

PRIM2

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 mm170241ct 6 rs71214816
dbSNP
57398207 2145.77 G T . 0/1 334 STOP_GAINED HIGH NONSENSE None None None None None None None

RP11-1407O15.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 . 36353761 1924.77 C T . 0/1 455 STOP_GAINED HIGH NONSENSE 0.19529 None None None None None None None

OR4X1

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 mm170241ct 11 rs10838851
dbSNP
48286231 1916.77 T A . 0/1 132 STOP_GAINED HIGH NONSENSE 0.60423 0.60420 0.30936 None None None None None None None

IGLV5-48

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 mm170241ct 22 rs148013584
dbSNP
22707728 1818.77 C T . 0/1 128 STOP_GAINED HIGH NONSENSE None None None None None None None

ZNF80

Omim - GeneCards - NCBI
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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 mm170241ct 3 rs3732781
dbSNP
113955187 1729.77 A C . 0/1 108 STOP_GAINED HIGH NONSENSE 0.18550 0.18550 0.20637 None None None None None None None

IGLV8-61

Omim - GeneCards - NCBI
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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 mm170241ct 22 rs148886120
dbSNP
22453425 1468.77 C G . 0/1 105 STOP_GAINED HIGH NONSENSE 0.01657 0.01657 0.00194 None None None None None None None

NOTCH2NL

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 mm170241ct 1 rs140871032
dbSNP
145273366 1415.77 C T . 0/1 351 STOP_GAINED HIGH NONSENSE 0.01030 None None None None None None None

C5orf38

Omim - GeneCards - NCBI
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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 mm170241ct 5 rs62333235
dbSNP
2755485 1370.77 C T . 0/1 112 STOP_GAINED HIGH NONSENSE 0.29673 0.29670 None None None None None None None

OR1B1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs1476860
dbSNP
125391241 1345.77 G A . 0/1 79 STOP_GAINED HIGH NONSENSE 0.33926 0.33930 0.22697 None None None None None None None

PDE4DIP

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1778111
dbSNP
144915561 1317.77 G A . 0/1 85 STOP_GAINED HIGH NONSENSE None None None None None None None

OR52N4

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs4910844
dbSNP
5776484 1280.77 A T . 0/1 87 STOP_GAINED HIGH NONSENSE 0.21446 0.21450 0.20916 None None None None None None None

C8orf49

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs809203
dbSNP
11619504 1239.77 T A . 0/1 73 STOP_GAINED HIGH NONSENSE 0.25140 0.25140 None None None None None None None

TAS2R31

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 mm170241ct 12 rs78820764
dbSNP
11183035 1233.77 C T . 0/1 634 STOP_GAINED HIGH NONSENSE None None None None None None None

MAP2K3

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs55796947
dbSNP
21204210 1128.77 C T . 0/1 77 STOP_GAINED HIGH NONSENSE None None None None None None None

TRBV6-8

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs361451
dbSNP
142124315 1041.77 G A . 0/1 79 STOP_GAINED HIGH NONSENSE 0.07808 0.07808 0.07329 None None None None None None None

FAM104B

Omim - GeneCards - NCBI
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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 mm170241ct X rs113263757
dbSNP
55172630 1033.77 G A . 0/1 286 STOP_GAINED HIGH NONSENSE None None None None None None None

C5orf20

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs12520799
dbSNP
134782450 1031.77 T A . 0/1 51 STOP_GAINED HIGH NONSENSE 0.64517 0.64520 0.40151 None None None None None None None

OR2L8

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs10888281
dbSNP
248113026 1019.77 T A . 0/1 86 STOP_GAINED HIGH NONSENSE 0.74581 0.74580 0.25235 None None None None None None None

KRTAP13-2

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs877346
dbSNP
31744127 1006.77 A T . 0/1 67 STOP_GAINED HIGH NONSENSE 0.31809 0.31810 0.39397 None None None None None None None

CLYBL

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs41281112
dbSNP
100518634 929.77 C T . 0/1 52 STOP_GAINED HIGH NONSENSE 0.02196 0.02196 0.02053 None None None None None None None

PTPRQ

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs7976388
dbSNP
80855818 907.77 A T . 0/1 50 STOP_GAINED HIGH NONSENSE 0.12959 0.21710 None None None None None None None

USP29

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs9973206
dbSNP
57642782 845.77 C A . 1/1 25 STOP_GAINED HIGH NONSENSE 0.95208 0.95210 0.11704 None None None None None None None

LRIT1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs201482815
dbSNP
85994115 755.77 C T . 0/1 68 STOP_GAINED HIGH NONSENSE None None None None None None None

TCP10L2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs2297462
dbSNP
167591956 754.77 C T . 0/1 158 STOP_GAINED HIGH NONSENSE None None None None None None None

TRBV11-1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs361468
dbSNP
142223920 751.77 G A . 0/1 65 STOP_GAINED HIGH NONSENSE 0.00419 0.00419 0.00331 None None None None None None None

TTLL3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs115917139
dbSNP
9874914 745.77 C T . 1/1 23 STOP_GAINED HIGH NONSENSE 0.02296 0.02296 0.03225 None None None None None None None

LINC00955

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs62272968
dbSNP
3590730 742.77 G A . 0/1 91 STOP_GAINED HIGH NONSENSE None None None None None None None

PDE4DIP

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2762779
dbSNP
145075683 706.77 C T . 0/1 38 STOP_GAINED HIGH NONSENSE None None None None None None None

C5orf45

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs112867427
dbSNP
179280392 705.77 G A . 0/1 60 STOP_GAINED HIGH NONSENSE 0.00339 0.00340 0.00338 None None None None None None None

PDE4DIP

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1698683
dbSNP
144916676 679.77 C T . 0/1 218 STOP_GAINED HIGH NONSENSE 0.32120 None None None None None None None

MADD

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs35233100
dbSNP
47306630 643.77 C T . 0/1 56 STOP_GAINED HIGH NONSENSE 0.01697 0.01697 0.04593 None None None None None None None

TTC4

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1147990
dbSNP
55182300 641.77 T A . 0/1 48 STOP_GAINED HIGH NONSENSE 0.66833 0.66830 0.47509 0.27 0.00 None None None None None None None

NPDC1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs10781536
dbSNP
139937799 618.77 G A . 1/1 18 STOP_GAINED HIGH NONSENSE 0.99701 0.99700 None None None None None None None

CCHCR1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs72856718
dbSNP
31125257 601.77 C A . 0/1 43 STOP_GAINED HIGH NONSENSE 0.08127 0.08127 0.07480 None None None None None None None

CNTN5

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 mm170241ct 11 rs12292659
dbSNP
99690376 588.77 C T . 0/1 218 STOP_GAINED HIGH NONSENSE 0.23515 None None None None None None None

MUC6

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs75482640
dbSNP
1017041 585.77 G T . 0/1 174 STOP_GAINED HIGH NONSENSE None None None None None None None

C1orf210

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs764160703
dbSNP
43748618 533.77 G T . 0/1 58 STOP_GAINED HIGH NONSENSE None None None None None None None

PKD1L2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 16 rs7499011
dbSNP
81242198 511.77 G A . 0/1 48 STOP_GAINED HIGH NONSENSE 0.16174 0.16170 0.29020 None None None None None None None

RP11-625H11.1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 15 rs35757182
dbSNP
62932556 491.77 G C . 0/1 26 STOP_GAINED HIGH NONSENSE 0.03694 0.03694 None None None None None None None

PKD1L2

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View mm170241ct 16 rs59980974
dbSNP
81183325 488.77 T A . 0/1 31 STOP_GAINED HIGH NONSENSE 0.16154 0.16150 0.07323 None None None None None None None

ZNF717

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 mm170241ct 3 rs74740396
dbSNP
75787127 480.77 G T . 0/1 407 STOP_GAINED HIGH NONSENSE None None None None None None None

OR4C5

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs78160589
dbSNP
48387978 472.77 T A . 0/1 109 STOP_GAINED HIGH NONSENSE None None None None None None None
View mm170241ct 11 rs77053100
dbSNP
48387201 470.77 G A . 0/1 183 STOP_GAINED HIGH NONSENSE None None None None None None None

DNAH11

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs2285943
dbSNP
21582963 457.77 G T . 0/1 37 STOP_GAINED HIGH NONSENSE 0.41194 0.41190 0.42685 None None None None None None None

OR4C3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs72473368
dbSNP
48347014 450.77 G A . 0/1 88 STOP_GAINED HIGH NONSENSE None None None None None None None

AC074389.6

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs117250982
dbSNP
1733474 449.77 G A . 0/1 29 STOP_GAINED HIGH NONSENSE 0.00859 0.00859 None None None None None None None

LILRA1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs150508449
dbSNP
55107223 432.77 G T . 0/1 36 STOP_GAINED HIGH NONSENSE 0.02077 0.02077 None None None None None None None

CLDN5

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs885985
dbSNP
19511925 428.77 G A . 0/1 30 STOP_GAINED HIGH NONSENSE 0.49681 0.49680 None None None None None None None

ANKRD36C

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs74941794
dbSNP
96525771 410.77 A C . 0/1 478 STOP_GAINED HIGH NONSENSE None None None None None None None

C2orf83

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2176186
dbSNP
228476140 407.77 C T . 0/1 38 STOP_GAINED HIGH NONSENSE 0.31390 0.31390 0.28079 None None None None None None None

FUT2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs601338
dbSNP
49206674 398.77 G A . 0/1 38 STOP_GAINED HIGH NONSENSE 0.32169 0.32170 0.49346 None None None None None None None

GZMB

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs2273844
dbSNP
25103414 397.77 G A . 0/1 23 STOP_GAINED HIGH NONSENSE 0.29593 0.29590 0.26541 None None None None None None None

AKR7L

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs115063329
dbSNP
19597370 384.77 G A . 0/1 41 STOP_GAINED HIGH NONSENSE 0.00919 0.00919 0.01292 None None None None None None None

HLA-A

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs9260156
dbSNP
29911240 381.77 T A . 0/1 29 STOP_GAINED HIGH NONSENSE 0.22863 0.22860 None None None None None None None

CEP170

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2728433
dbSNP
243328887 324.77 G T . 0/1 464 STOP_GAINED HIGH NONSENSE None None None None None None None

HLA-DPB1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs1126511
dbSNP
33048466 322.77 G T . 0/1 43 STOP_GAINED HIGH NONSENSE 0.27097 0.27100 None None None None None None None

CPN2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs4974539
dbSNP
194061907 309.77 G A . 0/1 16 STOP_GAINED HIGH NONSENSE 0.28015 0.28020 0.34453 None None None None None None None

KMT2C

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs201234598
dbSNP
151945256 180.77 G A . 0/1 587 STOP_GAINED HIGH NONSENSE None None None None None None None

KRT37

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs78158550
dbSNP
39579059 159.77 G A . 0/1 16 STOP_GAINED HIGH NONSENSE 0.17213 0.17210 None None None None None None None

RP11-867G23.8

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs117647993
dbSNP
66130847 154.77 G A . 0/1 18 STOP_GAINED HIGH NONSENSE 0.00280 0.00280 None None None None None None None

ZNF717

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs144353922
dbSNP
75786175 124.77 C A . 0/1 473 STOP_GAINED HIGH NONSENSE None None None None None None None

ANKRD36

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 . 97851077 122.77 C A . 0/1 372 STOP_GAINED HIGH NONSENSE None None None None None None None

NOMO2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 16 rs200294351
dbSNP
18532238 77.77 C A . 0/1 90 STOP_GAINED HIGH NONSENSE None None None None None None None