SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 40
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

FAM186A

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 cypcyp_20170119 12 rs12317337,rs762780805
dbSNP Clinvar
50745863 13604600.0 C CC... VQSRTrancheINDEL99.50to99.90 1/4 0 FRAME_SHIFT HIGH 0.26298 0.26300 None None None None None None FAM186A|0.00104253|95.21%
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 cypcyp_20170119 12 rs748285596
dbSNP Clinvar
8757522 13151200.0 CA CA... InbreedingCoeff 1/4 0 None None None 0.40061 None None None None None None AICDA|0.345530644|24.45%
View cypcyp_20170119 8 rs762862833
dbSNP Clinvar
109247189 1779490.0 CA... CA... PASS 1/4 0 None None None None None None None None None EIF3E|0.773587651|6.46%
View cypcyp_20170119 4 . 71894476 1198210.0 ATT AT... PASS 1/4 0 None None None None None None None None None DCK|0.588840844|12.17%
View cypcyp_20170119 2 rs770029289
dbSNP Clinvar
242263803 3115020.0 CT... CT... PASS 1/4 0 None None None None None None None None None SEPT2|0.221974831|34.21%
View cypcyp_20170119 2 rs758234883
dbSNP Clinvar
152402515 3033040.0 TAA TA... PASS 1/4 0 None None None None None None None None None NEB|0.790698728|6.11%
View cypcyp_20170119 1 rs544818658
dbSNP Clinvar
158637865 16581400.0 GAAAA GA... InbreedingCoeff 1/4 0 None None None 0.00799 0.02296 None None None None None None SPTA1|0.026631928|71.06%
View cypcyp_20170119 X rs748184945
dbSNP Clinvar
129338973 688479.0 GAA GA... PASS 1/4 0 None None None None None None None None None ZNF280C|0.013902226|77.94%
View cypcyp_20170119 21 rs796798002
dbSNP Clinvar
45094467 766932.0 CTT CT... PASS 1/4 0 None None None None None None None None None RRP1B|0.00474795|86.16%
View cypcyp_20170119 21 rs759702114
dbSNP Clinvar
44488755 7092340.0 GAA GA... InbreedingCoeff 1/4 0 None None None 0.56115 None None None None None None CBS|0.170288794|40.28%
View cypcyp_20170119 20 . 46282112 1737420.0 AT... AT... VQSRTrancheINDEL97.00to99.00 1/4 0 None None None None None None None None None NCOA3|0.49257506|16.22%
View cypcyp_20170119 20 rs774802125
dbSNP Clinvar
5548208 8166560.0 TAAAA TA... VQSRTrancheINDEL95.00to96.00 1/4 0 None None None None None None None None None GPCPD1|0.297739207|27.83%
View cypcyp_20170119 19 rs771096089
dbSNP Clinvar
39883264 636839.0 CTTT CT... PASS 1/4 0 None None None None None None None None None MED29|0.251514563|31.41%
View cypcyp_20170119 18 rs764242896,rs869274495
dbSNP Clinvar
5292207 2603790.0 CAA CA... InbreedingCoeff 1/4 0 None None None None None None None None None ZBTB14|0.281875727|28.98%
View cypcyp_20170119 17 rs11080288,rs368775416
dbSNP Clinvar
32965285 5522210.0 C CC... PASS 1/4 0 None None None 0.48801 None None None None None None TMEM132E|0.12551241|46.56%
View cypcyp_20170119 16 rs768349814
dbSNP Clinvar
3452453 7229090.0 CT CT... PASS 1/4 0 None None None None None None None None None ZNF174|0.02425907|72.1%
View cypcyp_20170119 14 . 23396916 1727350.0 CTTTT CT... PASS 1/4 0 None None None None None None None None None PRMT5|0.865531844|4.36%
View cypcyp_20170119 12 rs775632305,rs60187316
dbSNP Clinvar
125324570 9156960.0 C T,... InbreedingCoeff 1/4 0 None None None 0.67053 0.67050 None None None None None None SCARB1|0.190368173|37.77%
View cypcyp_20170119 12 rs549525368
dbSNP Clinvar
90015579 10130800.0 CA CA... PASS 1/4 0 None None None 0.00080 0.00080 0.41939 None None None None None None ATP2B1|0.788695463|6.13%
View cypcyp_20170119 12 . 20801861 4865600.0 CTTT CT... PASS 1/4 0 None None None None None None None None None PDE3A|0.202234491|36.5%
View cypcyp_20170119 11 rs782474855
dbSNP Clinvar
118955882 3119100.0 CT... CT... PASS 1/4 0 None None None None None None None None None HMBS|0.819772021|5.34%
View cypcyp_20170119 6 rs796154380
dbSNP Clinvar
24714681 5482900.0 TAA TA... PASS 1/4 0 None None None 0.40104 None None None None None None C6orf62|0.750705748|7.07%
View cypcyp_20170119 4 rs758910587
dbSNP Clinvar
146475243 2157290.0 CTTTT CT... VQSRTrancheINDEL97.00to99.00 1/4 0 None None None None None None None None None SMAD1|0.560950884|13.32%
View cypcyp_20170119 3 rs776211530
dbSNP Clinvar
30842346 11051100.0 AA... AA... PASS 1/4 0 None None None None None None None None None GADL1|0.38453553|21.76%
View cypcyp_20170119 3 . 29628739 578123.0 TT... TT... VQSRTrancheINDEL99.50to99.90 1/4 0 None None None None None None None None None RBMS3|0.934703314|2.66%
View cypcyp_20170119 2 rs747256713
dbSNP Clinvar
216274853 13934800.0 AA... AA... PASS 1/4 0 None None None None None None None None None FN1|0.99982615|0.22%
View cypcyp_20170119 2 rs773805526
dbSNP Clinvar
183995115 1091000.0 CTTT CT... VQSRTrancheINDEL99.00to99.50 1/4 0 None None None None None None None None None NUP35|0.520357605|14.99%
View cypcyp_20170119 1 rs749555206
dbSNP Clinvar
116268178 5192150.0 GA... G,... PASS 1/4 0 None None None None None None None None None CASQ2|0.441097582|18.61%
View cypcyp_20170119 18 rs775060283
dbSNP Clinvar
47787622 1482020.0 CA... CA... VQSRTrancheINDEL97.00to99.00 1/4 0 None None None None None None None None None CFAP53|0.02234551|72.99%
View cypcyp_20170119 16 . 24820823 904971.0 CAAAA CA... PASS 1/4 0 None None None None None None None None None TNRC6A|0.637285217|10.54%
View cypcyp_20170119 16 rs761853416
dbSNP Clinvar
2088401 1006620.0 ACC AC... VQSRTrancheINDEL97.00to99.00 1/4 0 None None None None None None None None None SLC9A3R2|0.069797651|57.51%
View cypcyp_20170119 14 rs767405609
dbSNP Clinvar
103964807 751039.0 ATT AT... InbreedingCoeff 1/4 0 None None None 0.45809 None None None None None None MARK3|0.55003038|13.72%
View cypcyp_20170119 12 . 7868865 3403380.0 CTT CT... PASS 1/4 0 None None None None None None None None None DPPA3|0.000575487|98.05%
View cypcyp_20170119 9 rs777228596
dbSNP Clinvar
451977 664302.0 AT... AT... VQSRTrancheINDEL97.00to99.00 1/4 0 None None None None None None None None None DOCK8|0.209041054|35.69%
View cypcyp_20170119 8 rs751893385
dbSNP Clinvar
124817605 1442690.0 CTTT CT... PASS 1/4 0 None None None None None None None None None FAM91A1|0.253358948|31.25%
View cypcyp_20170119 6 . 10891846 17954900.0 CT... GT... PASS 1/4 0 None None None None None None None None None SYCP2L|0.010875292|80.19%
View cypcyp_20170119 5 rs754331017
dbSNP Clinvar
112228791 2785450.0 TA... TA... VQSRTrancheINDEL97.00to99.00 1/4 0 None None None None None None None None None REEP5|0.250317384|31.49%,ZRSR1|0.001920074|91.19%
View cypcyp_20170119 5 rs760643768
dbSNP Clinvar
102890560 10592700.0 GA GA... PASS 1/4 0 None None None None None None None None None NUDT12|0.351629119|23.98%
View cypcyp_20170119 3 rs776663374
dbSNP Clinvar
160474540 3443970.0 CGTGT CG... PASS 1/4 0 None None None None None None None None None PPM1L|0.529287781|14.61%
View cypcyp_20170119 3 rs575757011
dbSNP Clinvar
112253193 5302170.0 CAA CA... InbreedingCoeff 1/4 0 None None None 0.00300 0.02696 None None None None None None ATG3|0.504506892|15.59%
  • Page 1 of 1