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INDIVIDUALS:

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CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
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, CHD7, GNAI2, HLA-A, HLA-DRB1, KMT2C, OTOA,
CASP12 {Sepsis, susceptibility to} (3)
CHD7 CHARGE syndrome, 214800 (3)
Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)
GNAI2 Pituitary ACTH-secreting adenoma (3)
Ventricular tachycardia, idiopathic, 192605 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
OTOA Deafness, autosomal recessive 22, 607039 (3)

Genes at Clinical Genomics Database

CHD7, HLA-A, OTOA,
CHD7 CHARGE syndrome
Hypogonadotropic hypogonadism 5 with or without anosmia
HLA-A Drug-induced toxicity, susceptibility to
OTOA Deafness, autosomal recessive 22

Genes at HGMD

Summary

Number of Variants: 31
Number of Genes: 25

Export to: CSV
  • Page 1 of 1

CASP12

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 ngs049p_s3 11 rs497116
dbSNP Clinvar
104763117 4024.71 G A PASS 1/1 124 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CCHCR1

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 ngs049p_s3 6 rs3130453
dbSNP Clinvar
31124849 1118.67 C T PASS 0/1 77 STOP_GAINED HIGH None 0.46925 0.46920 0.48507 None None None None None None CCHCR1|0.032661886|68.3%

CHD7

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 ngs049p_s3 8 . 61757427 19.36 G T LowDP 0/1 14 STOP_GAINED HIGH None None None None None None None CHD7|0.942578768|2.4%

CYP2D7P

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 ngs049p_s3 22 rs2743457
dbSNP Clinvar
42537252 173.99 G A SB 0/1 49 STOP_GAINED HIGH None 0.28674 0.28670 None None None None None None None

FAM8A1

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 ngs049p_s3 6 rs74444948
dbSNP Clinvar
17602826 595.0 G T PASS 0/1 52 STOP_GAINED HIGH None None None None None None None FAM8A1|0.060762759|59.66%

FRG1

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 ngs049p_s3 4 . 190862176 91.98 C A LowVariantFreq;SB 0/1 109 STOP_GAINED HIGH None None None None None None None FRG1|0.098149242|51.5%

GNAI2

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 ngs049p_s3 3 . 50294997 4.59 A T LowGQX;LowDP 0/1 6 STOP_GAINED HIGH None None None None None None None GNAI2|0.673459922|9.28%

GSTT2

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 ngs049p_s3 22 rs201176441
dbSNP Clinvar
24325648 71.04 C T SB 0/1 138 STOP_GAINED HIGH None 0.27197 0.27200 None None None None None None GSTT2|0.001674282|91.98%

GSTT2B

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 ngs049p_s3 22 rs200376763
dbSNP Clinvar
24300059 109.81 G A LowGQ;SB 0/1 135 STOP_GAINED HIGH None None None None None None None GSTT2B|0.001863137|91.37%

HLA-A

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 ngs049p_s3 6 rs372503438
dbSNP Clinvar
29911963 10.23 G A LowVariantFreq;SB 0/1 89 STOP_GAINED HIGH None None None None None None None HLA-A|0.043055872|64.8%

HLA-DRB1

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 ngs049p_s3 6 rs9269957
dbSNP Clinvar
32552141 386.87 G A PASS 0/1 65 STOP_GAINED HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View ngs049p_s3 6 rs11554463
dbSNP Clinvar
32551935 869.5 G T LowVariantFreq 0/1 224 STOP_GAINED HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View ngs049p_s3 6 rs9269958
dbSNP Clinvar
32552143 1833.59 C T PASS 1/1 65 STOP_GAINED HIGH None 0.69429 0.69430 None None None None None None HLA-DRB1|0.032266025|68.49%

HLA-DRB5

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 ngs049p_s3 6 rs200071340
dbSNP Clinvar
32489937 302.97 G A LowVariantFreq 0/1 75 STOP_GAINED HIGH None 0.25499 0.25500 None None None None None None HLA-DRB5|0.020830666|73.74%
View ngs049p_s3 6 rs201046358
dbSNP Clinvar
32486438 413.05 G A SB 0/1 43 STOP_GAINED HIGH None 0.12061 0.12060 None None None None None None HLA-DRB5|0.020830666|73.74%

IL17RB

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 ngs049p_s3 3 rs1043261
dbSNP Clinvar
53899276 852.01 C T PASS 0/1 66 STOP_GAINED HIGH None 0.13518 0.13520 0.08396 None None None None None None IL17RB|0.015681816|76.66%

INSL6

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 ngs049p_s3 9 . 5164230 7.18 C A LowGQX;SB;LowDP 0/1 10 STOP_GAINED HIGH None 5.08 None None None None None None INSL6|0.003312428|88.06%

KMT2C

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 ngs049p_s3 7 rs58528565
dbSNP Clinvar
151927023 3.68 G C LowGQX;LowVariantFreq 0/1 24 STOP_GAINED HIGH None None None None None None None KMT2C|0.088346598|53.58%
View ngs049p_s3 7 rs200662726
dbSNP Clinvar
151932961 47.97 G A LowVariantFreq 0/1 101 STOP_GAINED HIGH None None None None None None None KMT2C|0.088346598|53.58%

KRT37

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 ngs049p_s3 17 rs78158550
dbSNP Clinvar
39579059 341.49 G A PASS 0/1 61 STOP_GAINED HIGH None 0.17213 0.17210 None None None None None None KRT37|0.01861193|74.92%

KRT38

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 ngs049p_s3 17 rs148768443
dbSNP Clinvar
39595484 201.51 G A LowVariantFreq 0/1 80 STOP_GAINED HIGH None None None None None None None KRT38|0.008684534|81.96%

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 ngs049p_s3 11 rs2298553
dbSNP Clinvar
60265002 1209.76 C T PASS 0/1 60 STOP_GAINED HIGH None 0.47824 0.47820 0.45241 None None None None None None MS4A12|0.000555931|98.15%

MTCH2

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 ngs049p_s3 11 rs76185606
dbSNP Clinvar
47663963 185.56 G A LowVariantFreq;SB 0/1 81 STOP_GAINED HIGH None None None None None None None MTCH2|0.544905089|13.99%
View ngs049p_s3 11 rs796923130
dbSNP Clinvar
47660301 775.69 T A PASS 0/1 70 STOP_GAINED HIGH None 2.31 0.01 0.12845 T None None None None MTCH2|0.544905089|13.99%
View ngs049p_s3 11 rs796096347
dbSNP Clinvar
47644271 348.73 C T PASS 0/1 63 STOP_GAINED HIGH None None None None None None None MTCH2|0.544905089|13.99%

NT5C1B

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 ngs049p_s3 2 rs61742596
dbSNP Clinvar
18766156 1265.09 G T PASS 0/1 86 STOP_GAINED HIGH None 0.04093 0.04093 0.03228 None None None None None None NT5C1B-RDH14|0.088963018|53.47%,NT5C1B|0.049244606|62.89%

OTOA

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 ngs049p_s3 16 rs200988634
dbSNP Clinvar
21747639 199.3 G T PASS 0/1 70 STOP_GAINED HIGH None None None None None None None OTOA|0.045412102|64.09%

SIGLEC12

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 ngs049p_s3 19 rs16982743
dbSNP Clinvar
52004903 1271.63 G A PASS 0/1 121 STOP_GAINED HIGH None 0.18590 0.18590 0.23335 None None None None None None SIGLEC12|0.000634247|97.66%

TAS2R46

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 ngs049p_s3 12 rs2708381
dbSNP Clinvar
11214145 671.37 C T PASS 0/1 64 STOP_GAINED HIGH None 0.21186 0.21190 0.22759 None None None None None None PRR4|0.000493683|98.46%,TAS2R14|0.00022192|99.72%,TAS2R46|0.000713016|97.2%

TPTE

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 ngs049p_s3 21 rs1810540
dbSNP Clinvar
10942756 736.37 G A PASS 0/1 81 STOP_GAINED HIGH None None None None None None None None

ZC3H3

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 ngs049p_s3 8 rs2272754
dbSNP Clinvar
144522387 972.55 G T PASS 0/1 81 STOP_GAINED HIGH None 0.11182 0.11180 0.08943 None None None None None None ZC3H3|0.004437994|86.46%
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