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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB11_chr2_168915781_169036324 | 168975438 | T | TATAAATA others(393): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0033 | a0002c0033t0008 | a0002c0033t0008g0094 | 1 | 293 | 0.0034 | 400 | c.130 others(419): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172204 | A | ATAAATGA others(393): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG02895.hp1 others(1): Show |
a0013a0030 | a0013c0025a0013c0030a0030c0046 | a0013c0025t0001a0013c0030t0001a0030c0046t0001 | a0013c0025t0001g0007 a0013c0025t0001g0008 a0013c0030t0001g0274 others(1): Show |
4 | 210 | 0.0190 | 400 | c.278 others(419): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172204 | A | ATAAATGA others(393): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01106.hp2 HG02056.hp2 others(6): Show |
a0001a0002a0038others(1): Show | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 others(6): Show |
9 | 215 | 0.0419 | 400 | c.278 others(419): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172211 | A | AGTGGGTG others(393): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0146 | 1 | 334 | 0.0030 | 400 | c.278 others(419): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109209972 | C | CACATATA others(393): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03486.hp1 |
a0001 | a0001c0016a0001c0106 | a0001c0016t0009a0001c0106t0001 | a0001c0016t0009g0303 a0001c0106t0001g0291 |
2 | 271 | 0.0074 | 400 | c.324 others(417): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289928 | C | CCCCGTGT others(393): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 263 | 0.0038 | 400 | c.*36 others(411): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2462 | chr1 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277913 | C | CGAGACCA others(393): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0254 | 1 | 232 | 0.0043 | 400 | c.535 others(417): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277913 | C | CGAGACCA others(393): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0179 | 1 | 232 | 0.0043 | 400 | c.535 others(417): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1464424 | C | CCAGTCAC others(393): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0015 | 1 | 68 | 0.0147 | 400 | c.101 others(419): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(393): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 123 | 0.0081 | 400 | c.-1- others(415): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(393): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0194 | 1 | 137 | 0.0073 | 400 | c.248 others(415): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
ANO3_chr11_26327130_26668289 | 26529099 | T | TATATATA others(393): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02523.hp1 NA18977.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0101 a0001c0004t0003g0165 a0001c0004t0003g0168 |
3 | 182 | 0.0165 | 400 | c.738 others(417): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1825108 | C | CCCGCACC others(393): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 |
a0011 | a0011c0029 | a0011c0029t0007a0011c0029t0035 | a0011c0029t0007g0276 a0011c0029t0035g0275 |
2 | 353 | 0.0057 | 400 | c.-48 others(415): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049290 | G | GAGGGCAG others(393): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 259 | 0.0039 | 400 | c.*54 others(411): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2813 | chr8 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758477 | A | ACTCATTC others(393): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0039 | a0039c0081 | a0039c0081t0001 | a0039c0081t0001g0278 | 1 | 275 | 0.0036 | 400 | c.655 others(419): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 529677 | C | CTCGGTAA others(393): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0313 | 1 | 153 | 0.0065 | 400 | c.170 others(417): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 278958 | G | GGGAGGGA others(393): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0036 | 1 | 407 | 0.0025 | 400 | c.465 others(415): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32145533 | A | AATATATT others(393): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0031 | 1 | 395 | 0.0025 | 400 | c.*40 others(411): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3472 | chr22 | TogoVar | |||||||
C2orf16_chr2_27532386_27587722 | 27539791 | G | GTCCTCAC others(393): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01891.hp2 |
a0008 | a0008c0022a0008c0023 | a0008c0022t0001a0008c0023t0001 | a0008c0022t0001g0296 a0008c0023t0001g0297 |
2 | 215 | 0.0093 | 400 | c.144 others(417): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54970467 | G | GTTCCTCA others(393): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 3 | 0.3333 | 400 | c.255 others(417): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54970510 | C | CCTCTCCT others(393): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0108 | 1 | 116 | 0.0086 | 400 | c.255 others(417): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(393): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0116 a0002c0002t0002g0261 |
2 | 260 | 0.0077 | 400 | c.907 others(415): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(393): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 259 | 0.0039 | 400 | c.907 others(415): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44182125 | A | ACACACAC others(393): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 437 | 0.0046 | 400 | c.193 others(417): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(393): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 12 | 0.0833 | 400 | c.-45 others(421): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61444267 | G | GTGTCTCC others(393): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0027 | 1 | 92 | 0.0109 | 400 | c.169 others(421): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(393): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02818.hp2 others(5): Show |
a0001a0002 | a0001c0024a0002c0002a0002c0003others(1): Show | a0001c0024t0005a0002c0002t0003a0002c0002t0091others(3): Show | a0001c0024t0005g0216 a0002c0002t0003g0003 a0002c0002t0003g0208 others(5): Show |
8 | 73 | 0.1096 | 400 | c.-25 others(411): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(393): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0079 | 1 | 66 | 0.0152 | 400 | c.-25 others(411): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(393): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0012 | a0002c0012t0004 | a0002c0012t0004g0100 | 1 | 66 | 0.0152 | 400 | c.-25 others(411): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(393): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0193 | 1 | 66 | 0.0152 | 400 | c.-25 others(411): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(393): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0171 | 1 | 66 | 0.0152 | 400 | c.-25 others(411): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(393): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0161 | 1 | 66 | 0.0152 | 400 | c.-25 others(411): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882020 | C | CTAGATAG others(393): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 438 | 0.0023 | 400 | c.*11 others(411): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 258 | chr13 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650897 | G | GACTGTGA others(393): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 90 | 0.0111 | 400 | c.177 others(419): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20356953 | T | TACTGTGA others(393): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01993.hp1 NA20129.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0088 a0002c0002t0001g0111 a0002c0004t0001g0205 |
3 | 107 | 0.0280 | 400 | c.351 others(419): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101185412 | A | ACCCTCCA others(393): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0037a0001c0005t0026 | a0001c0004t0037g0028 a0001c0005t0026g0212 |
2 | 86 | 0.0233 | 400 | c.817 others(417): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575563 | T | CGTATATA others(393): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 204 | 0.0049 | 400 | c.894 others(415): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575563 | T | TATATATA others(393): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 204 | 0.0049 | 400 | c.894 others(415): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575583 | T | TGTGTGTA others(393): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 364 | 0.0027 | 400 | c.894 others(415): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81704325 | T | TCTCCTCC others(393): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01255.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0099 a0001c0001t0001g0130 others(8): Show |
11 | 263 | 0.0418 | 400 | c.209 others(417): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58586394 | C | CAGGGGGA others(393): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02080.hp1 HG02083.hp2 others(13): Show |
a0001a0008 | a0001c0001a0001c0010a0008c0012 | a0001c0001t0001a0001c0010t0001a0008c0012t0001 | a0001c0001t0001g0229 a0001c0001t0001g0238 a0001c0001t0001g0239 others(13): Show |
16 | 204 | 0.0784 | 400 | c.637 others(415): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CTTCCTCC others(393): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0002 | 1 | 68 | 0.0147 | 400 | c.-42 others(411): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69920971 | T | TATATATG others(393): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0006a0002c0009 | a0002c0006t0003a0002c0009t0004 | a0002c0006t0003g0065 a0002c0006t0003g0066 a0002c0009t0004g0168 |
3 | 131 | 0.0229 | 400 | c.267 others(417): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79687253 | T | TCAGTTCA others(393): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0099 | 1 | 346 | 0.0029 | 400 | c.314 others(417): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79687332 | G | GCCAGTTC others(393): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18940.hp2 NA18955.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 a0001c0003t0001g0029 a0001c0003t0001g0073 others(2): Show |
6 | 150 | 0.0400 | 400 | c.314 others(417): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(393): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 102 | 0.0098 | 400 | c.*19 others(411): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(393): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 118 | 0.0085 | 400 | c.*19 others(411): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | |||||||
CYLC1_chrX_83856146_83891698 | 83878390 | T | TATAAATA others(393): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 205 | 0.0049 | 400 | c.192 others(419): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CYP2C19_chr10_94757681_94860547 | 94824979 | C | CATGAACT others(393): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01071.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0024 | a0001c0001t0003g0289 a0001c0001t0003g0292 a0001c0001t0003g0293 others(8): Show |
11 | 325 | 0.0338 | 400 | c.961 others(417): Show |
CYP2C19 | ENSG00000165841.11 | transcript | ENST00000371321.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15931845 | G | GAGAGGAA others(393): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0005 | a0001c0005t0102 | a0001c0005t0102g0120 | 1 | 353 | 0.0028 | 400 | c.199 others(417): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar |