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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

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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

ASPN,
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 221
Number of Genes: 3

Export to: CSV

AC068620.1

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 combined sample_60.variant22 4 . 57277065 193.76 TA... TA... PASS 0/4 7 FRAME_SHIFT HIGH None None None None None None None PPAT|0.443666776|18.5%

ASPN

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 combined sample_60.variant22 9 rs878983183
dbSNP Clinvar
95237024 3443.09 CT... CT... PASS 0/4 52 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

MUC4

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 combined sample_60.variant22 3 . 195513398 11904.8 C CG... PASS 0/4 497 CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%
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 combined sample_60.variant22 1 . 38332078 1449.84 TCACA TC... PASS 0/4 53 None None None None None None None None None INPP5B|0.137737963|44.74%
View combined sample_60.variant22 1 . 52759048 42.86 CAAA CA... PASS 0/4 8 None None None None None None None None None ZFYVE9|0.64214254|10.39%
View combined sample_60.variant22 1 rs761024665
dbSNP Clinvar
84768224 48.65 TA... TA... PASS 0/4 7 None None None None None None None None None SAMD13|0.391986348|21.28%
View combined sample_60.variant22 1 rs766294419
dbSNP Clinvar
110301766 464.39 AG... AG... PASS 0/4 32 None None None None None None None None None GSTM5|0.009497757|81.28%,EPS8L3|0.013583387|78.12%
View combined sample_60.variant22 1 . 113212984 1051.6 CT... CT... PASS 0/4 142 None None None None None None None None None CAPZA1|0.603386529|11.68%
View combined sample_60.variant22 1 rs762269279
dbSNP Clinvar
113460676 171.5 CA... CA... PASS 0/4 5 None None None None None None None None None SLC16A1|0.225520269|33.83%
View combined sample_60.variant22 1 . 167886835 315.22 CAAA CA... PASS 0/4 116 None None None None None None None None None MPC2|0.358392845|23.56%
View combined sample_60.variant22 2 rs11280673
dbSNP Clinvar
11727867 749.03 A AC... PASS 0/4 16 None None None None None None None None None GREB1|0.073635422|56.6%
View combined sample_60.variant22 2 rs778251810
dbSNP Clinvar
62110551 191.92 CAAAA C,... PASS 0/4 9 None None None None None None None None None CCT4|0.816474939|5.4%
View combined sample_60.variant22 2 rs200480786,rs78592009
dbSNP Clinvar
162274607 190.54 AT... AT... PASS 0/4 11 None None None None None None None None None TBR1|0.920406814|2.97%
View combined sample_60.variant22 2 rs776204142
dbSNP Clinvar
179260499 50.79 TAAAA TA... PASS 0/4 37 None None None None None None None None None OSBPL6|0.461766537|17.59%
View combined sample_60.variant22 3 rs568860946,rs113167167,rs56881276
dbSNP Clinvar
9920845 256.35 A AT... PASS 0/4 7 None None None 0.59445 0.59440 None None None None None None CIDEC|0.052204278|62.02%
View combined sample_60.variant22 3 . 42688759 1874.02 AGT AG... PASS 0/4 91 None None None None None None None None None NKTR|0.680127655|9.07%
View combined sample_60.variant22 3 . 63982293 69.94 TAAAA TA... PASS 0/4 8 None None None None None None None None None ATXN7|0.45901663|17.72%
View combined sample_60.variant22 4 . 69093123 63.11 CTTT CT... PASS 0/4 5 None None None None None None None None None TMPRSS11BNL|0.038650015|66.23%,TMPRSS11B|0.003130217|88.43%
View combined sample_60.variant22 4 rs201889381,rs765803787,rs869117431
dbSNP Clinvar
177115873 3214.25 AT... A,... PASS 0/4 41 None None None 0.99900 0.99900 None None None None None None SPATA4|0.006754985|83.76%
View combined sample_60.variant22 4 rs199867915,rs569173317
dbSNP Clinvar
177249587 780.28 GT... GT... PASS 0/4 104 None None None 0.17173 0.17170 None None None None None None SPCS3|0.291704614|28.25%
View combined sample_60.variant22 5 . 79864744 220.86 CAGAG CA... PASS 0/4 4 None None None None None None None None None ANKRD34B|0.037975306|66.46%
View combined sample_60.variant22 6 . 2970958 80.08 CAA CA... PASS 0/4 16 None None None None None None None None None SERPINB6|0.030895679|69%
View combined sample_60.variant22 6 rs554967900
dbSNP Clinvar
4944004 322.68 TAAA TA... PASS 0/4 21 None None None 0.00120 0.00000 None None None None None None CDYL|0.153133689|42.52%
View combined sample_60.variant22 6 rs59248267
dbSNP Clinvar
42627258 269.27 TA... TA... PASS 0/4 7 None None None None None None None None None UBR2|0.353289156|23.87%
View combined sample_60.variant22 6 rs74588258
dbSNP Clinvar
160199454 1432.09 TT... TA... PASS 0/4 72 None None None None None None None None None ACAT2|0.090493467|53.12%
View combined sample_60.variant22 7 rs67533133
dbSNP Clinvar
87904915 119.49 GGT G,... PASS 0/4 26 None None None 0.08586 0.08586 None None None None None None None
View combined sample_60.variant22 7 rs758281370
dbSNP Clinvar
95125050 1149.74 CTTT CT... PASS 0/4 73 None None None None None None None None None ASB4|0.113591299|48.56%
View combined sample_60.variant22 7 rs144874127
dbSNP Clinvar
155256690 1765.53 AACAC AA... PASS 0/4 133 None None None None None None None None None EN2|0.358503209|23.56%
View combined sample_60.variant22 8 . 97156472 178.08 TA... TA... PASS 0/4 4 None None None None None None None None None GDF6|0.469958527|17.17%
View combined sample_60.variant22 8 rs757482173
dbSNP Clinvar
101280911 229.87 TAAAA TA... PASS 0/4 25 None None None None None None None None None RNF19A|0.554855981|13.52%
View combined sample_60.variant22 9 . 75533529 144.91 CT... CT... PASS 0/4 19 None None None None None None None None None ALDH1A1|0.218646851|34.51%
View combined sample_60.variant22 9 . 75772569 531.64 CAA CA... PASS 0/4 42 None None None None None None None None None ANXA1|0.44031941|18.64%
View combined sample_60.variant22 10 . 82228474 118.52 ATT AT... PASS 0/4 9 None None None None None None None None None TSPAN14|0.250239984|31.5%
View combined sample_60.variant22 10 rs138888534
dbSNP Clinvar
88494809 459.17 TA... TA... PASS 0/4 21 None None None None None None None None None LDB3|0.330839914|25.44%
View combined sample_60.variant22 10 rs372506043
dbSNP Clinvar
105815202 850.08 T TC... PASS 0/4 25 None None None None None None None None None COL17A1|0.220252717|34.39%
View combined sample_60.variant22 11 rs541461716
dbSNP Clinvar
1021368 1143.72 CT... C,... PASS 0/4 38 None None None 0.06170 0.06170 None None None None None None MUC6|0.00166044|92.04%
View combined sample_60.variant22 11 rs34735265,rs58554178
dbSNP Clinvar
57175138 282.03 TTG TT... PASS 0/4 40 None None None None None None None None None SLC43A3|0.017891933|75.34%
View combined sample_60.variant22 11 . 65764797 128.63 CAAA CA... PASS 0/4 37 None None None None None None None None None EIF1AD|0.172010625|40.05%
View combined sample_60.variant22 11 rs886048721
dbSNP Clinvar
86658243 199.87 TC... T,... PASS 0/4 13 None None None None None None None None None PRSS23|0.171409238|40.11%,FZD4|0.378737932|22.13%
View combined sample_60.variant22 11 . 118304272 34.59 CT... CT... PASS 0/4 7 None None None None None None None None None None
View combined sample_60.variant22 11 rs757623581,rs59914981
dbSNP Clinvar
133789013 35.33 C CG... PASS 0/4 21 None None None None None None None None None IGSF9B|0.218378186|34.58%
View combined sample_60.variant22 12 . 109865121 140.55 CAAA CA... PASS 0/4 22 None None None None None None None None None MYO1H|0.08059629|55.04%
View combined sample_60.variant22 12 rs71787421,rs71086128
dbSNP Clinvar
113410684 316.75 GG... GG... PASS 0/4 35 None None None None None None None None None OAS3|0.003222049|88.28%
View combined sample_60.variant22 13 rs796849612
dbSNP Clinvar
28519709 128.75 TAA TA... PASS 0/4 8 None None None None None None None None None ATP5EP2|0.012108009|79.15%
View combined sample_60.variant22 13 rs766181995
dbSNP Clinvar
52511275 711.52 GAAA GA... PASS 0/4 53 None None None None None None None None None ATP7B|0.044059753|64.5%
View combined sample_60.variant22 14 rs878926320
dbSNP Clinvar
103570134 1257.34 CGT TG... PASS 0/4 57 None None None None None None None None None EXOC3L4|0.002483399|89.74%
View combined sample_60.variant22 15 . 55790791 44.22 GAAA GA... PASS 0/4 35 None None None None None None None None None DYX1C1|0.073770721|56.56%
View combined sample_60.variant22 15 rs770558546
dbSNP Clinvar
55905957 1434.98 CTTT C,... PASS 0/4 98 None None None None None None None None None PRTG|0.162495719|41.23%
View combined sample_60.variant22 15 rs56301942
dbSNP Clinvar
74419237 330.24 TT... T,... PASS 0/4 6 None None None None None None None None None ISLR2|0.03585306|67.19%
View combined sample_60.variant22 15 rs762594738
dbSNP Clinvar
90029795 492.37 CA... CA... PASS 0/4 11 None None None None None None None None None RHCG|0.053436707|61.64%
View combined sample_60.variant22 17 . 33593161 233.95 AT... AT... PASS 0/4 18 None None None None None None None None None SLFN5|0.001194702|94.44%
View combined sample_60.variant22 17 . 48202135 449.28 GC... GC... PASS 0/4 19 None None None None None None None None None SAMD14|0.178175681|39.27%
View combined sample_60.variant22 17 rs571197770,rs774421728,rs58570485
dbSNP Clinvar
52991026 122.42 CA... CA... PASS 0/4 34 None None None 0.26538 0.26540 None None None None None None TOM1L1|0.118198744|47.71%
View combined sample_60.variant22 19 rs879030447
dbSNP Clinvar
12574740 104.21 CAAAA C,... PASS 0/4 26 None None None None None None None None None ZNF709|0.001149246|94.72%
View combined sample_60.variant22 19 rs761838171
dbSNP Clinvar
14758222 218.76 CTTT CT... PASS 0/4 24 None None None None None None None None None ADGRE3|0.00236842|89.99%
View combined sample_60.variant22 19 rs1010716856
dbSNP Clinvar
54491525 159.55 AG... A,... PASS 0/4 8 None None None None None None None None None CACNG8|0.019146405|74.59%
View combined sample_60.variant22 20 rs578256057,rs74277457
dbSNP Clinvar
62887076 716.58 A AG... PASS 0/4 51 None None None None None None None None None None
View combined sample_60.variant22 22 . 22052550 767.74 CAA CA... PASS 0/4 45 None None None None None None None None None PPIL2|0.067918785|57.94%,YPEL1|0.146114817|43.57%
View combined sample_60.variant22 22 rs147967901
dbSNP Clinvar
22057997 1084.27 C CG... PASS 0/4 38 None None None None None None None None None YPEL1|0.146114817|43.57%
View combined sample_60.variant22 X . 55172747 3879.66 G GT... PASS 0/4 362 None None None None None None None None None FAM104B|0.001440975|93.08%
View combined sample_60.variant22 X . 70080911 95.57 CTT CT... PASS 0/4 8 None None None None None None None None None TEX11|0.015005078|77.12%
View combined sample_60.variant22 1 rs986746048
dbSNP Clinvar
19542727 1076.79 CA CA... PASS 0/4 58 None None None None None None None None None EMC1|0.229110718|33.43%
View combined sample_60.variant22 X rs782391883
dbSNP Clinvar
152774486 523.78 CC... C,... PASS 0/4 21 None None None None None None None None None BGN|0.555214937|13.51%
View combined sample_60.variant22 1 rs573438170,rs886045576
dbSNP Clinvar
172635756 185.71 GG... GG... PASS 0/4 16 None None None 0.00639 0.05072 None None None None None None FASLG|0.719610878|7.98%
View combined sample_60.variant22 1 rs71286550,rs546749152
dbSNP Clinvar
198717218 210.43 GTT GT... PASS 0/4 56 None None None 0.27955 0.27960 None None None None None None PTPRC|0.168280937|40.54%
View combined sample_60.variant22 1 . 209974528 120.24 CAAAA CA... PASS 0/4 45 None None None None None None None None None IRF6|0.957625071|2.03%
View combined sample_60.variant22 2 rs748537057,rs373887089
dbSNP Clinvar
8822892 293.77 CA... CA... PASS 0/4 28 None None None None None None None None None ID2|0.996888044|0.68%
View combined sample_60.variant22 2 . 173686465 227.41 TA... TA... PASS 0/4 37 None None None None None None None None None RAPGEF4|0.869951983|4.2%
View combined sample_60.variant22 2 . 175324882 145.44 ATTT AT... PASS 0/4 27 None None None None None None None None None GPR155|0.447589032|18.26%
View combined sample_60.variant22 2 rs879010051
dbSNP Clinvar
176959113 248.15 GCACA GC... PASS 0/4 27 None None None None None None None None None HOXD13|0.936177608|2.62%
View combined sample_60.variant22 2 rs57205763,rs550377398,rs869035962
dbSNP Clinvar
201470233 448.88 ATTTT AT... PASS 0/4 20 None None None 0.37080 None None None None None None AOX1|0.048138399|63.27%
View combined sample_60.variant22 2 rs557988366,rs10573691
dbSNP Clinvar
242034475 830.47 GCCCC GC... PASS 0/4 24 None None None 0.88958 0.88960 None None None None None None SNED1|0.028973787|69.88%,MTERF4|0.001728081|91.76%
View combined sample_60.variant22 3 rs796550407
dbSNP Clinvar
49723726 515.33 GCC GC... PASS 0/4 31 None None None None None None None None None MST1|0.051015484|62.36%
View combined sample_60.variant22 3 rs878889453
dbSNP Clinvar
186918238 145.66 CAAA CA... PASS 0/4 15 None None None None None None None None None RTP1|0.334329069|25.14%
View combined sample_60.variant22 4 . 110632209 232.59 CTTT CT... PASS 0/4 96 None None None None None None None None None PLA2G12A|0.084528103|54.31%
View combined sample_60.variant22 4 . 16168614 36.12 CTT C,... PASS 0/4 9 None None None None None None None None None TAPT1|0.263958572|30.38%
View combined sample_60.variant22 4 . 52780989 156.41 CTTT CT... PASS 0/4 74 None None None None None None None None None DCUN1D4|0.580507296|12.56%
View combined sample_60.variant22 4 . 53728527 326.11 G GC... PASS 0/4 66 None None None None None None None None None RASL11B|0.145712637|43.61%
View combined sample_60.variant22 5 rs555038587,rs70988830
dbSNP Clinvar
41033931 537.94 C CT... PASS 0/4 28 None None None 0.34185 0.34190 None None None None None None MROH2B|0.069922794|57.5%
View combined sample_60.variant22 5 . 68728980 84.72 CTTT CT... PASS 0/4 15 None None None None None None None None None MARVELD2|0.096591179|51.8%
View combined sample_60.variant22 5 . 66084419 601.38 A AC... PASS 0/4 74 None None None None None None None None None MAST4|0.51813717|15.06%
View combined sample_60.variant22 5 . 66492632 32.27 GAAAA G,... PASS 0/4 6 None None None None None None None None None None
View combined sample_60.variant22 5 . 68415844 140.58 CAAA CA... PASS 0/4 18 None None None None None None None None None SLC30A5|0.378427462|22.15%
View combined sample_60.variant22 5 rs754331017
dbSNP Clinvar
112228791 77.65 TA... TA... PASS 0/4 29 None None None None None None None None None REEP5|0.250317384|31.49%,ZRSR1|0.001920074|91.19%
View combined sample_60.variant22 5 . 140953001 67.03 CAAA C,... PASS 0/4 9 None None None None None None None None None DIAPH1|0.460968984|17.63%
View combined sample_60.variant22 5 rs563933511
dbSNP Clinvar
179956197 77.01 CA CA... PASS 0/4 19 None None None 0.26578 0.26580 None None None None None None CNOT6|0.652785136|9.99%
View combined sample_60.variant22 6 rs757356384
dbSNP Clinvar
24719383 666.21 CAAA CA... PASS 0/4 55 None None None None None None None None None C6orf62|0.750705748|7.07%
View combined sample_60.variant22 6 rs150519959
dbSNP Clinvar
33052626 279.28 AA... AA... PASS 0/4 38 None None None None None None None None None HLA-DPB1|0.007827013|82.73%
View combined sample_60.variant22 6 . 106556396 196.65 CTTT CT... PASS 0/4 20 None None None None None None None None None PRDM1|0.584785722|12.37%
View combined sample_60.variant22 6 rs373838049,rs886061065
dbSNP Clinvar
132168996 156.08 GGTGT GG... PASS 0/4 30 None None None None None None None None None ENPP1|0.410372092|20.17%
View combined sample_60.variant22 6 rs770930326
dbSNP Clinvar
159026163 106.48 AGT AG... PASS 0/4 7 None None None None None None None None None TMEM181|0.035547858|67.29%
View combined sample_60.variant22 7 . 23562175 31.88 TAAA TA... PASS 0/4 14 None None None None None None None None None TRA2A|0.445873786|18.37%
View combined sample_60.variant22 7 . 69583231 72.58 TA... TA... PASS 0/4 7 None None None None None None None None None AUTS2|0.998368801|0.51%
View combined sample_60.variant22 7 . 108111657 180.53 CTT CT... PASS 0/4 49 None None None None None None None None None PNPLA8|0.159857924|41.56%
View combined sample_60.variant22 7 rs777705409
dbSNP Clinvar
140508151 142.06 CAAAA CA... PASS 0/4 48 None None None None None None None None None BRAF|0.683349444|8.98%
View combined sample_60.variant22 8 rs555159067
dbSNP Clinvar
23537638 627.65 GA... GA... PASS 0/4 92 None None None 0.27296 0.27300 None None None None None None NKX3-1|0.048286219|63.2%
View combined sample_60.variant22 8 rs758634152
dbSNP Clinvar
33367497 89.07 CAAAA CA... PASS 0/4 18 None None None None None None None None None TTI2|0.014665132|77.39%
View combined sample_60.variant22 8 . 36675017 344.62 CA... CA... PASS 0/4 12 None None None None None None None None None KCNU1|0.007868066|82.7%
View combined sample_60.variant22 8 . 38928984 120.68 CTTT CT... PASS 0/4 10 None None None None None None None None None ADAM9|0.066355581|58.29%
View combined sample_60.variant22 9 . 20343181 582.88 CA... C,... PASS 0/4 10 None None None None None None None None None MLLT3|0.923079652|2.91%