view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AARS2_chr6_44293731_44318347 | 44296934 | T | TGGACTTG others(42): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 38 | 0.0263 | 49 | c.*36 others(60): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1796 | chr6 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8732898 | T | TCCGGACG others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 360 | 0.0028 | 49 | c.-41 others(66): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69177971 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 210 | 0.0048 | 49 | c.277 others(68): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69177971 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02074.hp1 HG02280.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 a0002c0002t0001g0066 a0002c0002t0001g0104 others(5): Show |
8 | 217 | 0.0369 | 49 | c.277 others(68): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48411310 | T | TTTTCTTT others(42): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG01952.hp2 others(6): Show |
a0001a0005a0006others(5): Show | a0001c0010a0005c0007a0006c0024others(5): Show | a0001c0010t0002a0005c0007t0003a0006c0024t0003others(6): Show | a0001c0010t0002g0075 a0005c0007t0003g0121 a0006c0024t0003g0107 others(6): Show |
9 | 145 | 0.0621 | 49 | c.122 others(68): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94012894 | G | GACCTCCT others(42): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03516.hp2 |
a0003 | a0003c0068a0003c0075 | a0003c0068t0001a0003c0075t0001 | a0003c0068t0001g0035 a0003c0075t0001g0043 |
2 | 304 | 0.0066 | 49 | c.546 others(68): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0321 | 1 | 237 | 0.0042 | 49 | c.931 others(64): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0027 | a0001c0004t0014g0320 a0001c0004t0027g0319 |
2 | 238 | 0.0084 | 49 | c.931 others(64): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCC10_chr6_43422541_43455427 | 43450013 | C | CACCTATC others(42): Show |
frameshift_variant | HIGH | NA19011.hp2 | a0011 | a0011c0019 | a0011c0019t0004 | a0011c0019t0004g0068 | 1 | 340 | 0.0029 | 49 | c.440 others(58): Show |
p.Asn others(6): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 22/22 | 4631/5043 | 4403/4479 | 1468/1492 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CCTCTCTC others(42): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0065 | 1 | 104 | 0.0096 | 49 | c.49- others(64): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTCCTC others(42): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0041 | 1 | 104 | 0.0096 | 49 | c.49- others(64): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838649 | A | ACCTCCCA others(42): Show |
intron_variant | MODIFIER | HG01928.hp2 HG04204.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0125 a0001c0002t0003g0116 |
2 | 334 | 0.0060 | 49 | c.361 others(68): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99839217 | C | CCGGCTGG others(42): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 218 | 0.0046 | 49 | c.361 others(68): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244644 | A | AGGAAGGA others(42): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0050 | a0001c0050t0005 | a0001c0050t0005g0036 | 1 | 155 | 0.0065 | 49 | c.306 others(66): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184193134 | G | GGAGTCAT others(42): Show |
frameshift_variant | HIGH | NA18961.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0027 | 1 | 414 | 0.0024 | 49 | c.178 others(58): Show |
p.Arg others(5): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 19/21 | 1794/2446 | 1785/2130 | 595/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(42): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 117 | 0.0085 | 49 | c.-11 others(60): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152 a0001c0002t0002g0153 |
2 | 94 | 0.0213 | 49 | c.422 others(64): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 93 | 0.0108 | 49 | c.422 others(64): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD15_chr17_29555547_29572037 | 29558337 | C | CTCTTTCT others(42): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 416 | 0.0024 | 49 | c.*42 others(60): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 2209 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1048541 | T | TGGGCCAC others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0008a0001c0002t0011others(2): Show | a0001c0001t0001g0227 a0001c0002t0008g0036 a0001c0002t0011g0229 others(2): Show |
5 | 322 | 0.0155 | 49 | c.179 others(68): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1048635 | G | GTCCGGGG others(42): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0047 | a0001c0006t0047g0228 | 1 | 331 | 0.0030 | 49 | c.179 others(68): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1048795 | G | GGTCAAGA others(42): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0084 | a0001c0002t0001g0109 a0001c0002t0084g0329 |
2 | 334 | 0.0060 | 49 | c.179 others(68): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1054495 | A | AGGGGATG others(42): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0084 | a0001c0002t0001g0109 a0001c0002t0084g0329 |
2 | 335 | 0.0060 | 49 | c.156 others(68): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 14/22 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390304 | T | TTTTATAT others(42): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0146 | 1 | 194 | 0.0052 | 49 | c.38+ others(66): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44074753 | T | TTTCTTTC others(42): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0112 | 1 | 436 | 0.0023 | 49 | c.489 others(62): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44074773 | T | TTTCTTTC others(42): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0126 | 1 | 433 | 0.0023 | 49 | c.489 others(62): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44074775 | T | TCTTTCTT others(42): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0209 | 1 | 434 | 0.0023 | 49 | c.489 others(62): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | chr11 | TogoVar | |||||||
ACHE_chr7_100884994_100900888 | 100893725 | C | CCAAGAAG others(42): Show |
frameshift_variant | HIGH | HG02738.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0061 | 1 | 412 | 0.0024 | 49 | c.459 others(56): Show |
p.Val others(5): Show |
ACHE | ENSG00000087085.16 | transcript | ENST00000241069.11 | protein_coding | 2/5 | 614/2172 | 507/1845 | 169/614 | chr7 | TogoVar | |||
ACMSD_chr2_134833616_134907034 | 134885309 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 |
3 | 380 | 0.0079 | 49 | c.849 others(68): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54561917 | C | CCCCCCCC others(42): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02145.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0002others(2): Show | a0001c0001t0002a0001c0019t0006a0002c0002t0003others(5): Show | a0001c0001t0002g0384 a0001c0019t0006g0083 a0002c0002t0003g0162 others(13): Show |
16 | 297 | 0.0539 | 49 | c.33+ others(66): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112381918 | T | TTAAAAAA others(42): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18983.hp1 NA19062.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0254 a0001c0001t0001g0255 others(2): Show |
6 | 362 | 0.0166 | 49 | c.-30 others(66): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112423221 | A | AAATATAT others(42): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 27 | 0.0370 | 49 | c.159 others(66): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236755708 | G | GTTAGAAC others(42): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0089 a0001c0001t0018g0307 |
2 | 264 | 0.0076 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236755757 | G | GTTAGAAC others(42): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0029 | a0001c0029t0005 | a0001c0029t0005g0108 | 1 | 334 | 0.0030 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236755967 | A | AATAGAGT others(42): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0089 a0001c0001t0018g0307 |
2 | 323 | 0.0062 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756233 | T | TGCCCGCT others(42): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01496.hp2 others(24): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0016others(2): Show | a0001c0001t0003a0001c0003t0021a0001c0016t0003others(2): Show | a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 others(24): Show |
27 | 334 | 0.0808 | 49 | c.215 others(68): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756335 | C | CGCTGCCA others(42): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01496.hp2 others(21): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0016others(2): Show | a0001c0001t0003a0001c0003t0021a0001c0016t0003others(2): Show | a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0027 others(21): Show |
24 | 324 | 0.0741 | 49 | c.215 others(68): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756344 | T | TGTTAGAA others(42): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0084 | 1 | 312 | 0.0032 | 49 | c.215 others(68): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756369 | A | ATACTGCA others(42): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0007t0004 | a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0079 others(1): Show |
4 | 340 | 0.0118 | 49 | c.215 others(68): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756457 | A | AATAGAGT others(42): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(36): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0003a0001c0003t0003a0001c0003t0021others(3): Show | a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 others(36): Show |
39 | 336 | 0.1161 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756483 | G | GCTGCCAC others(42): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0074 a0001c0001t0011g0091 |
2 | 342 | 0.0058 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756541 | G | GTTAGAAC others(42): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0168 | 1 | 260 | 0.0038 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756696 | C | CCTGGTAA others(42): Show |
intron_variant | MODIFIER | NA19068.hp1 NA19072.hp1 |
a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0014 a0001c0009t0003g0039 |
2 | 338 | 0.0059 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756825 | C | CGCTGCCA others(42): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 339 | 0.0029 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756826 | G | GCTGCCAC others(42): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0149 | 1 | 253 | 0.0040 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756898 | A | AATAGAGT others(42): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0029 | a0001c0029t0005 | a0001c0029t0005g0108 | 1 | 324 | 0.0031 | 49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 77 | 0.0130 | 49 | c.324 others(68): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24304738 | T | TACCTCTA others(42): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0045 | a0002c0003t0045g0272 | 1 | 346 | 0.0029 | 49 | c.150 others(66): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33626521 | A | AATGGTGG others(42): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 222 | 0.0045 | 49 | c.202 others(68): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 13/23 | chr5 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 44 | 0.0227 | 49 | c.161 others(68): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar |