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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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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

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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

ARID1B, ATN1, ATXN2, COL18A1, FMN2, GIGYF2, HAVCR1, HOXA1, HTT, KIF1A, MEF2A, ORAI1, RAI1, SMARCA2, SYT14, TRIOBP, VEGFC, WWC1,
ARID1B Coffin-Siris syndrome 1, 135900 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
Spinocerebellar ataxia 2, 183090 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
GIGYF2 {Parkinson disease 11}, 607688 (3)
HAVCR1 {Atopy, resistance to}, 147050 (3)
HOXA1 Bosley-Salih-Alorainy syndrome, 601536 (3)
Athabaskan brainstem dysgenesis syndrome, 601536 (3)
HTT Huntington disease, 143100 (3)
KIF1A Spastic paraplegia 30, autosomal recessive, 610357 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Mental retardation, autosomal dominant 9, 614255 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
ORAI1 Myopathy, tubular aggregate, 2, 615883 (3)
Immunodeficiency 9, 612782 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SYT14 Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
VEGFC Lymphedema, hereditary, ID, 615907 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)

Genes at Clinical Genomics Database

ARID1B, ATN1, ATXN2, COL18A1, FMN2, GIGYF2, HOXA1, HTT, KIF1A, ORAI1, RAI1, SMARCA2, SYT14, TRIOBP, VEGFC,
ARID1B Coffin-Siris syndrome 1
Mental retardation, autosomal dominant, 12
ATN1 Dentatorubro-pallidoluysian atrophy
ATXN2 Spinocerebellar ataxia 2
COL18A1 Knobloch syndrome 1
FMN2 Mental retardation, autosomal recessive, 47
GIGYF2 Parkinson disease, autosomal dominant, 11
HOXA1 Bosley-Salih-Alorainy syndrome
Athabaskan brainstem dysgenesis syndrome
HTT Huntington disease
KIF1A Spastic paraplegia 30, autosomal recessive
Neuropathy, hereditary sensory, type IIC
Mental retardation, autosomal dominant 9
ORAI1 Immunodeficiency 9
RAI1 Smith-Magenis syndrome
SMARCA2 Nicolaides-Baraitser syndrome
SYT14 Spinocerebellar ataxia, autosomal recessive 11
TRIOBP Deafness, autosomal recessive 28
VEGFC Lymphedema, hereditary, ID

Genes at HGMD

Summary

Number of Variants: 90
Number of Genes: 88

Export to: CSV

AAK1

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 2 rs3832159,rs66931661
dbSNP
69741753 482.73 CTGT C . 0/1 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.35583 0.35580 0.34251 None None None None None None None

ADAMTS8

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 rs10548872
dbSNP
130298117 260.73 GGCA G . 0/1 20 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.07728 0.47700 0.51250 None None None None None None None

AK9

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 6 rs71770197,rs141134529,rs568921203
dbSNP
109906329 968.73 GCTT G . 0/1 48 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.37201 0.37200 0.33319 None None None None None None None

ALLC

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 2 rs66473381,rs759577715,rs796898978,rs201406139,rs34308920
dbSNP
3749151 1100.73 GGAA G . 0/1 62 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.41194 0.41190 0.49313 None None None None None None None

ALPK2

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 18 rs141586980
dbSNP
56203252 1860.73 AAAG A . 0/1 108 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.07208 0.07208 0.11480 None None None None None None None

ANKRD31

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 5 rs10563854,rs796339850
dbSNP
74491715 4867.73 TTCA T . 0/1 215 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.58147 0.58150 0.49535 None None None None None None None

ANP32E

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 1 rs68136184,rs56692627
dbSNP
150199039 2069.73 CT... C . 0/1 81 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.35064 0.35060 0.20257 None None None None None None None

APOBEC3H

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 22 rs140936762,rs201177427,rs139292
dbSNP
39496322 904.73 TAAC T . 0/1 55 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.31749 0.31750 0.32481 None None None None None None None

ARID1B

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 6 rs780034760,rs587779748
dbSNP
157100005 645.73 CGGA C . 0/1 43 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.03501 None None None None None None None

ATAD5

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 17 rs72427574,rs60663953
dbSNP
29161955 6616.73 AC... A . 0/1 190 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.14397 0.14400 0.08583 None None None None None None None

ATN1

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 12 rs377147612,rs782466377
dbSNP
7045891 774.73 AC... A . 0/1 20 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

ATXN2

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 12 rs10560189,rs67658094
dbSNP
112036753 321.77 GGCT G . 1/1 11 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.95108 0.95110 0.09190 None None None None None None None

C22orf43

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 22 rs10564183,rs142649853,rs3831377,rs66974032
dbSNP
23964282 4309.73 GCAT G . 0/1 245 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.12400 0.12400 None None None None None None None

C6orf164

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 6 rs67076383,rs368228855
dbSNP
88108048 6635.73 AGAT A . 1/1 116 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.71146 0.71150 None None None None None None None

CD3EAP

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 19 rs35729377,rs374686338
dbSNP
45912489 1272.73 CAAG C . 0/1 73 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

CDKN2AIP

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 4 rs147291711,rs10533201
dbSNP
184367558 3512.73 TCTG T . 0/1 141 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.36302 0.36300 0.44257 None None None None None None None

CLCA4

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 1 rs4001061,rs77067122
dbSNP
87045896 12770.73 TC... T . 0/1 434 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.70707 0.70710 None None None None None None None

COL18A1

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 21 rs149296338,rs78227997
dbSNP
46924425 1379.73 CG... C . 1/1 17 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

CREB3L2

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 7 rs66593747,rs3217268
dbSNP
137612913 780.73 CTGG C . 1/1 14 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.69070 0.69070 0.36032 None None None None None None None

DCP1A

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 3 rs71087075,rs201612547,rs527572883
dbSNP
53324819 4894.73 AT... A . 1/1 59 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.99441 0.99440 0.00515 None None None None None None None

FAM174B

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 15 rs68056278,rs66488707
dbSNP
93198678 423.77 TT... T . 1/1 8 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.97524 0.97520 0.06364 None None None None None None None

FAM194B

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 13 rs142875900,rs375947127
dbSNP
46170719 14718.73 CC... C . 1/1 133 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.27536 0.27540 0.37630 None None None None None None None

FAM71E2

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 19 rs67168196,rs67988285
dbSNP
55869879 2265.73 GG... G . 0/1 32 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.87560 0.87560 0.17410 None None None None None None None

FMN2

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 1 rs140531536,rs71929261
dbSNP
240255568 668.73 GGGC G . 1/1 18 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.70667 0.70670 None None None None None None None

GIGYF2

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 2 rs10555297
dbSNP
233712226 731.73 CACA C . 1/1 14 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.55911 0.55910 None None None None None None None

GOLGA6L2

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 15 rs766696615
dbSNP
23685825 307.73 ATCT A . 0/1 19 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None
View mm170241ct 15 rs752835816
dbSNP
23685091 434.73 TCTC T . 0/1 20 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None
View mm170241ct 15 rs796716630
dbSNP
23685748 259.73 TCTC T . 0/1 16 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

GPR50

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 X rs68058591,rs377556761
dbSNP
150349557 5225.73 CC... C . 0/1 94 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.40429 None None None None None None None

GPRIN1

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 5 rs142779818,rs371149640
dbSNP
176026119 2532.73 TC... T . 0/1 36 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.19403 None None None None None None None

HAVCR1

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 5 rs141023871,rs6149307
dbSNP
156479557 18801.73 GT... G . 1/1 191 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.58227 0.58230 0.42746 None None None None None None None

HOMEZ

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 14 rs67447855,rs35076736
dbSNP
23744826 620.73 TTCC T . 0/1 21 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.35204 0.35200 None None None None None None None

HOXA1

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 7 rs368428758
dbSNP
27135313 542.73 GCGA G . 0/1 44 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.00739 0.00739 None None None None None None None

HTT

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 4 rs149109767
dbSNP
3230410 284.73 AGAG A . 0/1 13 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.02656 0.02656 0.05086 None None None None None None None

IST1

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 16 rs549750934,rs372825060
dbSNP
71956511 5032.73 AA... A . 0/1 146 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.03574 0.27960 None None None None None None None

ITPKB

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 1 rs147889095
dbSNP
226924875 1824.73 AC... A . 0/1 33 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.28195 0.28190 0.20633 None None None None None None None

KANK3

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 19 rs111905975,rs367746100
dbSNP
8389892 615.73 GTCC G . 0/1 36 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.15375 0.15380 0.17423 None None None None None None None

KIAA2018

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 3 rs112313093,rs59601191
dbSNP
113376110 1487.73 TT... T . 1/1 37 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

KIF1A

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 2 rs10594016,rs533559120
dbSNP
241696840 732.73 ATCC A . 0/1 55 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

KLRF1

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 12 rs33911869,rs60498737,rs543781017
dbSNP
9994445 5515.73 GTGT G . 1/1 99 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.99421 0.99420 None None None None None None None

KRTAP10-10

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 21 rs66931310,rs56249559
dbSNP
46057612 1636.73 CC... C . 0/1 37 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.49780 0.49780 0.44800 None None None None None None None

LAD1

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 1 rs78190062,rs398053706
dbSNP
201356001 983.73 CCCA C . 0/1 39 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.06010 0.06010 0.12328 None None None None None None None

LENG9

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 19 rs140013148,rs763793615,rs36031488
dbSNP
54973988 1020.73 GCCT G . 0/1 40 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.41494 0.41490 0.49259 None None None None None None None

LRRC49

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 15 rs3834543,rs56720495
dbSNP
71276480 1935.73 GCAA G . 0/1 92 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.43590 0.43590 0.40853 None None None None None None None

MAP3K4

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 6 rs5881391,rs113801384,rs752044838,rs573460061
dbSNP
161519350 1459.73 CCTG C . 1/1 41 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

MDK

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 rs760818036
dbSNP
46404340 162.73 GCCC G . 0/1 64 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

MEF2A

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 15 rs373652230,rs745914434
dbSNP
100252709 716.73 CCAG C . 1/1 49 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

MEGF9

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 9 rs369989873
dbSNP
123476542 2515.73 AC... A . 1/1 39 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.66873 0.66870 0.26389 None None None None None None None

MEOX2

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 7 rs113582077,rs750338773
dbSNP
15725797 362.73 ATGG A . 0/1 26 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

MEX3C

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 18 rs147438518,rs78074704
dbSNP
48723145 1816.73 CG... C . 1/1 19 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.40258 None None None None None None None

MRPL18

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 6 rs58504486,rs796468076
dbSNP
160211645 1804.73 GGTT G . 1/1 32 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.66514 0.66510 0.32806 None None None None None None None

NCOA3

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 20 rs578139784,rs112826888
dbSNP
46279863 248.73 GCAA G . 0/1 34 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.16853 0.16850 None None None None None None None

NKAP

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 X rs754034102,rs10577974
dbSNP
119070327 2160.73 CGAT C . 0/1 93 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.09457 0.09457 0.11406 None None None None None None None

NOTCH4

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 6 rs150280230
dbSNP
32191658 1100.75 TA... T . 1/1 21 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

NRD1

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 1 rs35723519,rs60220085
dbSNP
52306063 4146.73 ATCT A . 1/1 103 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.56170 0.56170 None None None None None None None

OR14A16

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 1 rs35979231,rs375198428
dbSNP
247978541 3464.73 AAGG A . 0/1 154 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.72065 0.72060 0.31590 None None None None None None None

OR2A14

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 7 rs66549240,rs34602346
dbSNP
143826729 524.73 ACTT A . 0/1 26 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.57847 0.57850 0.49941 None None None None None None None

OR2T27

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 1 rs199590470
dbSNP
248813650 555.73 CAGA C . 0/1 39 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.13119 0.13120 0.13995 None None None None None None None

OR4C3

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 rs138704181,rs201980031
dbSNP
48346660 6029.73 TT... T . 0/1 175 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.44951 None None None None None None None

OR5H6

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 rs74203917,rs398062605
dbSNP
97983487 32729.73 TT... T . 1/1 412 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.31709 0.31710 0.43239 None None None None None None None

ORAI1

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 12 rs141919534,rs531278468
dbSNP
122064773 3321.73 CC... C . 1/1 48 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.99980 0.99980 None None None None None None None

OTOP1

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 4 rs112623841,rs374875261
dbSNP
4198948 1544.73 GC... G . 0/1 41 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.07668 0.07668 0.06886 None None None None None None None

PHLDA1

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 12 rs71716769,rs111754051,rs57875368,rs398020175
dbSNP
76424937 1551.73 TTGC T . 1/1 36 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.00938 0.00939 None None None None None None None

POLI

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 18 rs10584411,rs763063557,rs3729509
dbSNP
51795957 361.73 GCGA G . 0/1 17 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.78395 0.78390 0.23883 None None None None None None None

POU3F1

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 1 . 38512308 638.73 GG... G . 0/1 15 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

PRUNE2

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 9 rs11267615,rs376038487
dbSNP
79318375 6056.73 GG... G . 1/1 54 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.78435 0.78430 None None None None None None None

QRICH2

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 17 rs35035566,rs34007000
dbSNP
74288564 1055.73 CTGA C . 0/1 50 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.46965 0.46960 0.41596 None None None None None None None

RAI1

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 17 rs371983878,rs113303801,rs794727528
dbSNP
17697093 882.73 CCAG C . 1/1 32 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

RIC8A

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 rs3832797
dbSNP
209894 796.73 ACCC A . 0/1 29 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.41394 0.41390 0.32010 None None None None None None None

RIN3

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 14 rs71698059,rs68153141,rs570458246
dbSNP
93154537 558.73 TGGC T . 0/1 43 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.29220 None None None None None None None

SFRP1

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 8 rs3832595,rs869111618,rs3055861
dbSNP
41166637 742.73 GGCT G . 0/1 27 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.31110 0.31110 0.25402 None None None None None None None

SIRPA

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 20 rs139878822
dbSNP
1896051 344.73 CCGA C . 0/1 21 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.38938 0.38940 0.30653 None None None None None None None

SMARCA2

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 9 rs781477472
dbSNP
2039776 213.73 ACAG A . 0/1 21 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

SYNPO2

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 4 rs70944826
dbSNP
119947961 5964.73 AAAG A . 1/1 109 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.35543 0.35540 0.33762 None None None None None None None

SYT14

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 1 rs144713062,rs2307890
dbSNP
210267893 7681.73 TGAA T . 1/1 150 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.07967 0.07967 0.10000 None None None None None None None

TMEM25

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 rs781792224
dbSNP
118404173 495.73 ATTG A . 0/1 17 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

TMPRSS13

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 rs777911089
dbSNP
117789302 575.73 CG... C . 0/1 30 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

TRIOBP

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 22 rs67890459,rs55745992
dbSNP
38119754 4865.73 TCAA T . 0/1 177 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.33626 0.33630 0.35319 None None None None None None None

URI1

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 19 rs3840928,rs556897562,rs398059661
dbSNP
30500118 10128.73 GTGA G . 1/1 271 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.75620 None None None None None None None

VEGFC

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 4 rs5864401,rs3062984,rs397710947
dbSNP
177605081 5578.73 CTCA C . 1/1 104 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.99701 0.99700 0.00436 None None None None None None None

WWC1

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 5 rs111457550,rs376909223
dbSNP
167881029 182.73 TGGA T . 0/1 15 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.33160 None None None None None None None

YEATS2

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 rs146705467,rs757328974,rs560342307
dbSNP
183493743 248.74 CGGA C . 0/1 11 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

ZCCHC3

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 20 rs5839847,rs11468351,rs6147263
dbSNP
278687 879.73 CCGG C . 1/1 20 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.86562 0.86560 None None None None None None None

ZCCHC6

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 9 rs58050565,rs397759922
dbSNP
88937851 3014.73 ATTT A . 0/1 112 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.52396 0.52400 0.45375 None None None None None None None

ZFPM1

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 16 rs149145771
dbSNP
88599699 869.73 CC... C . 1/1 11 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

ZIC5

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 13 rs746241424,rs71114653
dbSNP
100622667 632.73 TGGC T . 0/1 42 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

ZNF2

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 2 rs10578519,rs397802135
dbSNP
95847040 3638.73 TGCG T . 1/1 80 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.99701 0.99700 0.00895 None None None None None None None

ZNF384

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 12 rs3835029,rs747471532,rs72393318,rs544124628
dbSNP
6777069 757.73 TTGC T . 1/1 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.79992 0.80110 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 rs146447046
dbSNP
75786314 17923.73 CC... C . 0/1 425 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

ZNF787

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 19 rs5828672,rs71696054
dbSNP
56599437 338.77 CTCG C . 1/1 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.90036 0.90040 None None None None None None None