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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2477): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 2484 | c.*32 others(2495): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
WDR7_chr18_56646359_57034792 | 57024580 | A | AATTTCAC others(2477): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0141 | 1 | 144 | 0.0069 | 2484 | c.427 others(2503): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZNF146_chr19_36210106_36243768 | 36222838 | C | CTTTTTTT others(2477): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0224 | 1 | 390 | 0.0026 | 2484 | c.-85 others(2503): Show |
ZNF146 | ENSG00000167635.12 | transcript | ENST00000443387.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2478): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0036 | 1 | 334 | 0.0030 | 2485 | c.147 others(2502): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2478): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 301 | 0.0033 | 2485 | c.-11 others(2496): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80836754 | T | TAAAGAGT others(2478): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 NA18522.hp2 |
a0001a0011 | a0001c0001a0011c0014 | a0001c0001t0005a0011c0014t0011 | a0001c0001t0005g0183 a0011c0014t0011g0300 a0011c0014t0011g0302 |
3 | 362 | 0.0083 | 2485 | c.281 others(2506): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80836754 | T | TAAAGAGT others(2478): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02970.hp1 HG03195.hp2 others(1): Show |
a0008a0010 | a0008c0011a0010c0015a0010c0027 | a0008c0011t0005a0010c0015t0005a0010c0027t0005 | a0008c0011t0005g0013 a0008c0011t0005g0029 a0010c0015t0005g0012 others(1): Show |
4 | 362 | 0.0111 | 2485 | c.281 others(2506): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80836754 | T | TAAAGAGT others(2478): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0010 | a0010c0015 | a0010c0015t0005 | a0010c0015t0005g0030 | 1 | 362 | 0.0028 | 2485 | c.281 others(2506): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZNF146_chr19_36210106_36243768 | 36222838 | C | CTTTTTTT others(2478): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225 | 1 | 390 | 0.0026 | 2485 | c.-85 others(2504): Show |
ZNF146 | ENSG00000167635.12 | transcript | ENST00000443387.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400831 | C | CACCACCT others(2479): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0017 | a0017c0124 | a0017c0124t0001 | a0017c0124t0001g0205 | 1 | 256 | 0.0039 | 2486 | c.323 others(2505): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2479): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 170 | 0.0059 | 2486 | c.642 others(2503): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2479): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 378 | 0.0027 | 2486 | c.*49 others(2497): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2479): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0240 | 1 | 316 | 0.0032 | 2486 | c.-30 others(2497): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80836754 | T | TAAAGAGT others(2479): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0011 | a0011c0014 | a0011c0014t0011 | a0011c0014t0011g0301 | 1 | 362 | 0.0028 | 2486 | c.281 others(2507): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
STARD9_chr15_42570606_42725998 | 42624481 | A | ACCACCAA others(2479): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0018 | a0018c0025 | a0018c0025t0004 | a0018c0025t0004g0077 | 1 | 210 | 0.0048 | 2486 | c.235 others(2505): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2479): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0003 | 1 | 272 | 0.0037 | 2486 | c.389 others(2505): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2480): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0125 | 1 | 298 | 0.0034 | 2487 | c.126 others(2504): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAA others(2480): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 308 | 0.0033 | 2487 | c.157 others(2502): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80836754 | T | TAAAGAGT others(2480): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0008 | a0008c0011 | a0008c0011t0005 | a0008c0011t0005g0014 | 1 | 362 | 0.0028 | 2487 | c.281 others(2508): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304948 | A | AGAAGGGG others(2480): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 133 | 0.0075 | 2487 | c.351 others(2506): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54585711 | A | AAGAGAGA others(2480): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 370 | 0.0027 | 2487 | c.149 others(2506): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2480): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0221 | 1 | 271 | 0.0037 | 2487 | c.105 others(2506): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2480): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0041 | a0001c0041t0003 | a0001c0041t0003g0243 | 1 | 271 | 0.0037 | 2487 | c.105 others(2506): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(2481): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0002 | a0001c0001t0018g0303 a0001c0002t0002g0283 |
2 | 344 | 0.0058 | 2488 | c.127 others(2505): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882453 | C | CGGGAGAA others(2481): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 288 | 0.0035 | 2488 | c.303 others(2507): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2481): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0413 | 1 | 432 | 0.0023 | 2488 | c.414 others(2505): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976981 | T | TGAGGCTG others(2481): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0008 | a0008c0079 | a0008c0079t0001 | a0008c0079t0001g0074 | 1 | 116 | 0.0086 | 2488 | c.199 others(2507): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2481): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0187 | 1 | 272 | 0.0037 | 2488 | c.389 others(2507): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2481): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0075 a0001c0010t0001g0186 |
2 | 272 | 0.0074 | 2488 | c.389 others(2507): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2481): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0223 | 1 | 271 | 0.0037 | 2488 | c.105 others(2507): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2481): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0079 | 1 | 271 | 0.0037 | 2488 | c.105 others(2507): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2482): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 334 | 0.0030 | 2489 | c.147 others(2506): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2482): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 432 | 0.0023 | 2489 | c.414 others(2506): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2482): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0095 | 1 | 432 | 0.0023 | 2489 | c.414 others(2506): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2482): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 388 | 0.0026 | 2489 | c.114 others(2508): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2482): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 276 | 0.0036 | 2489 | c.*52 others(2500): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2378450 | A | ATCCGTGT others(2482): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 384 | 0.0026 | 2489 | c.215 others(2506): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2482): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0226 | 1 | 271 | 0.0037 | 2489 | c.105 others(2508): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2482): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0084 | 1 | 271 | 0.0037 | 2489 | c.105 others(2508): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(2483): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0069 a0001c0001t0009g0091 |
2 | 344 | 0.0058 | 2490 | c.127 others(2507): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2483): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0282 | 1 | 432 | 0.0023 | 2490 | c.103 others(2507): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2483): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02896.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0270 a0003c0003t0001g0415 |
2 | 432 | 0.0046 | 2490 | c.414 others(2507): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2483): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0140a0001c0001t0153 | a0001c0001t0140g0024 a0001c0001t0153g0024 |
2 | 388 | 0.0052 | 2490 | c.114 others(2509): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2483): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 388 | 0.0026 | 2490 | c.114 others(2509): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2483): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0019 | a0002c0019t0001 | a0002c0019t0001g0084 | 1 | 298 | 0.0034 | 2490 | c.126 others(2507): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2483): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0030 | a0001c0030t0005 | a0001c0030t0005g0135 | 1 | 298 | 0.0034 | 2490 | c.126 others(2507): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2483): Show |
upstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 301 | 0.0033 | 2490 | c.-11 others(2501): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2483): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0050 | 1 | 116 | 0.0086 | 2490 | c.522 others(2507): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133764 | T | TCTCTCTC others(2483): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 227 | 0.0044 | 2490 | c.*23 others(2501): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2052 | chr19 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432084 | T | TAGAGTGG others(2483): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 1 | 376 | 0.0027 | 2490 | c.101 others(2507): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |