| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADPRHL1_chr13_113394611_113458488 | 113412924 | A | ACTCGGTT others(239): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0044 | a0044c0030 | a0044c0030t0001 | a0044c0030t0001g0089 | 1 | 262 | 0.0038 | 246 | c.106 others(265): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| ADPRHL1_chr13_113394611_113458488 | 113412948 | T | TGCCCCGC others(239): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0132 | 1 | 262 | 0.0038 | 246 | c.106 others(265): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| ADPRHL1_chr13_113394611_113458488 | 113412948 | T | TGCCCCGC others(239): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0020 | a0020c0057 | a0020c0057t0001 | a0020c0057t0001g0016 | 1 | 262 | 0.0038 | 246 | c.106 others(265): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| AGBL4_chr1_48527854_50028954 | 49947954 | A | ATATATAT others(239): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0005 | a0005c0010 | a0005c0010t0008 | a0005c0010t0008g0023 | 1 | 104 | 0.0096 | 246 | c.34+ others(263): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
| AGPAT2_chr9_136668143_136692457 | 136675317 | C | CAGGGGGC others(239): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 374 | 0.0027 | 246 | c.589 others(261): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
| AGPAT2_chr9_136668143_136692457 | 136675347 | C | CAGCAGGG others(239): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 374 | 0.0027 | 246 | c.589 others(261): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
| AGPAT2_chr9_136668143_136692457 | 136675347 | C | CAGCAGGG others(239): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 374 | 0.0027 | 246 | c.589 others(261): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
| AGPAT2_chr9_136668143_136692457 | 136675347 | C | CAGCAGGG others(239): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 374 | 0.0027 | 246 | c.589 others(261): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
| AGPAT2_chr9_136668143_136692457 | 136675429 | C | CAGCAGGG others(239): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243a0001c0001t0002g0109 | 2 | 374 | 0.0054 | 246 | c.589 others(261): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 345201 | T | TGTGTGTG others(239): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0005 | a0005c0005t0038 | a0005c0005t0038g0024 | 1 | 268 | 0.0037 | 246 | c.62+ others(261): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 345201 | T | TGTGTGTG others(239): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0046 | a0001c0001t0001g0253a0001c0001t0001g0263a0001c0001t0046g0252 | 3 | 268 | 0.0112 | 246 | c.62+ others(261): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 345201 | T | TGTGTGTG others(239): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0254 | 1 | 268 | 0.0037 | 246 | c.62+ others(261): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 391308 | T | TGGGGCCA others(239): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0034 | 1 | 268 | 0.0037 | 246 | c.351 others(265): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77367790 | T | TATGTTAT others(239): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18992.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167a0001c0001t0003g0178a0001c0001t0003g0284 | 3 | 284 | 0.0106 | 246 | c.891 others(265): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77367790 | T | TATGTTAT others(239): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169a0001c0001t0003g0180 | 2 | 284 | 0.0070 | 246 | c.891 others(265): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(239): Show |
intron_variant | MODIFIER | NA18999.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0330a0001c0001t0013g0337 | 2 | 356 | 0.0056 | 246 | c.667 others(261): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
| ANO7_chr2_241183677_241230976 | 241218055 | C | CGCGCAGG others(239): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0007 | a0007c0077 | a0007c0077t0001 | a0007c0077t0001g0223 | 1 | 396 | 0.0025 | 246 | c.217 others(263): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AP2A2_chr11_920870_1017240 | 994952 | C | CGCTGTCC others(239): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01069.hp1 others(9): Show |
a0001 | a0001c0001a0001c0006a0001c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0128a0001c0001t0001g0130a0001c0001t0003g0129others(9): Show | 12 | 268 | 0.0448 | 246 | c.195 others(263): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AP2A2_chr11_920870_1017240 | 994961 | G | CTCCCGGG others(239): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008a0001c0001t0006g0009 | 2 | 268 | 0.0075 | 246 | c.195 others(263): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(239): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0229 | 2 | 342 | 0.0059 | 246 | c.*62 others(257): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144634102 | G | GGGAACTC others(239): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 246 | 0.0041 | 246 | c.-81 others(265): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144634144 | A | AGAACTCC others(239): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 246 | 0.0041 | 246 | c.-81 others(265): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687143 | C | CGAGCACT others(239): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 NA18948.hp2 NA18963.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0039a0001c0001t0001g0042others(1): Show | 4 | 246 | 0.0163 | 246 | c.-15 others(257): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1298 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687192 | C | CCCCCGTG others(239): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 246 | 0.0041 | 246 | c.-15 others(257): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1347 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(239): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 246 | 0.0041 | 246 | c.-16 others(257): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687652 | C | CCCCGTGA others(239): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 246 | 0.0041 | 246 | c.-20 others(257): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1807 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687652 | C | CCCCGTGA others(239): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 246 | 0.0041 | 246 | c.-20 others(257): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1807 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687673 | A | AGTGAGCA others(239): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0022 | 1 | 246 | 0.0041 | 246 | c.-20 others(257): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1828 | chr8 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1824808 | T | TCCCCCGC others(239): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0141 | a0001c0141t0007 | a0001c0141t0007g0099 | 1 | 363 | 0.0028 | 246 | c.-48 others(261): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1825108 | C | CCCGCACC others(239): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0034 | a0002c0034t0004 | a0002c0034t0004g0148 | 1 | 363 | 0.0028 | 246 | c.-48 others(261): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(239): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 264 | 0.0038 | 246 | c.102 others(263): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| ASPG_chr14_104080700_104120582 | 104085512 | A | AGGCCCCG others(239): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0024 | a0001c0001t0005a0001c0024t0011 | a0001c0001t0005g0023a0001c0001t0005g0061a0001c0001t0005g0062others(1): Show | 5 | 368 | 0.0136 | 246 | c.-25 others(255): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 187 | chr14 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112785888 | A | AACATGGG others(239): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0216 | 1 | 254 | 0.0039 | 246 | c.162 others(261): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112785888 | A | AACATGGG others(239): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 254 | 0.0039 | 246 | c.162 others(261): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112786027 | T | TGCTTTCC others(239): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp2 |
a0001 | a0001c0019a0001c0042 | a0001c0019t0015a0001c0042t0044 | a0001c0019t0015g0147a0001c0042t0044g0148 | 2 | 254 | 0.0079 | 246 | c.162 others(261): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79326337 | T | TCCTCCCC others(239): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18747.hp2 NA18942.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0180a0002c0002t0002g0189a0002c0002t0002g0229others(5): Show | 8 | 298 | 0.0269 | 246 | c.177 others(265): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79326371 | G | GTACCCTC others(239): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02071.hp1 NA18944.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0033others(4): Show | 7 | 298 | 0.0235 | 246 | c.177 others(265): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| B3GAT1_chr11_134373508_134417242 | 134408396 | T | TTCCAGTG others(239): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03834.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0001g0063a0001c0001t0004g0011a0001c0001t0004g0253others(7): Show | 11 | 352 | 0.0313 | 246 | c.-28 others(265): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| B3GAT1_chr11_134373508_134417242 | 134408471 | G | GCACCGAT others(239): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0323a0001c0001t0002g0324a0001c0001t0002g0325others(2): Show | 5 | 352 | 0.0142 | 246 | c.-28 others(265): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(239): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 298 | 0.0034 | 246 | c.51+ others(259): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
| BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(239): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 1 | 298 | 0.0034 | 246 | c.51+ others(259): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
| BIRC7_chr20_63230905_63245495 | 63234245 | A | ACGCTGGA others(239): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp1 NA19240.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0008 | 3 | 300 | 0.0100 | 246 | c.-18 others(257): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1659 | chr20 | TogoVar | ||||||
| BLOC1S2_chr10_100268293_100291680 | 100276388 | G | GTCTCCCT others(239): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 378 | 0.0027 | 246 | c.398 others(261): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
| BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCCCCTC others(239): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0314a0001c0001t0004g0315a0001c0001t0004g0316others(4): Show | 7 | 330 | 0.0212 | 246 | c.431 others(263): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | ||||||
| BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCTCCTC others(239): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174a0001c0001t0002g0175 | 2 | 330 | 0.0061 | 246 | c.431 others(263): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | ||||||
| BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCTCCTC others(239): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 330 | 0.0030 | 246 | c.431 others(263): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | ||||||
| C22orf42_chr22_32144006_32164303 | 32145596 | T | TAATATAA others(239): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0009 | 1 | 398 | 0.0025 | 246 | c.*39 others(257): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3409 | chr22 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1073775 | G | GACCCCCC others(239): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 | 1 | 326 | 0.0031 | 246 | c.129 others(265): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1073775 | G | GACCCCCC others(239): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0168 | 1 | 326 | 0.0031 | 246 | c.129 others(265): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1073783 | A | ACCCCGCT others(239): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244 | 1 | 326 | 0.0031 | 246 | c.129 others(265): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar |