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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD8_chr14_21380199_21461123 | 21434039 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG02818.hp1 HG02895.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0002others(2): Show | a0001c0001t0001g0149a0001c0001t0001g0162a0001c0001t0003g0144others(5): Show | 8 | 260 | 0.0308 | -7 | c.-21 others(26): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21451571 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0146a0001c0001t0001g0147others(3): Show | 6 | 260 | 0.0231 | -7 | c.-21 others(26): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53054346 | TAGAGAGA | T | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0002g0049a0001c0001t0002g0053a0001c0001t0002g0127others(17): Show | 28 | 406 | 0.0690 | -7 | c.-17 others(18): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1450 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53054346 | TAGAGAGA | T | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0003g0016others(17): Show | 20 | 238 | 0.0840 | -7 | c.-89 others(16): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 644 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53178427 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022a0001c0001t0003g0079a0001c0001t0003g0096others(16): Show | 19 | 238 | 0.0798 | -7 | c.145 others(28): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHFR_chr12_132827356_132892605 | 132842067 | CCTCTATA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(96): Show |
a0002a0004a0006 | a0002c0002a0002c0007a0002c0011others(3): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(36): Show | a0002c0002t0002g0009a0002c0002t0002g0045a0002c0002t0002g0046others(91): Show | 99 | 378 | 0.2619 | -7 | c.191 others(24): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 17/17 | chr12 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5926069 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG02004.hp1 HG02300.hp1 others(2): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0016a0004c0004others(2): Show | a0001c0001t0001a0001c0016t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0001a0001c0016t0001g0004a0004c0004t0001g0010others(2): Show | 5 | 440 | 0.0114 | -7 | c.*10 others(18): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 717 | chr20 | TogoVar | ||||||
CHI3L1_chr1_203173931_203191704 | 203187301 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(141): Show |
a0001a0002a0008 | a0001c0001a0001c0006a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(32): Show | 144 | 468 | 0.3077 | -7 | c.-68 others(16): Show |
CHI3L1 | ENSG00000133048.13 | transcript | ENST00000255409.8 | protein_coding | 598 | chr1 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 309385 | TTCCTTCC | T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01433.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002a0003c0003t0046 | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0130others(3): Show | 6 | 290 | 0.0207 | -7 | c.-94 others(26): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHMP1A_chr16_89639435_89662708 | 89642282 | ATTTTTTG | A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0020 | a0001c0001t0007g0029a0001c0001t0007g0159a0001c0001t0007g0161others(5): Show | 8 | 392 | 0.0204 | -7 | c.*37 others(18): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 2152 | chr16 | TogoVar | ||||||
CHMP1B_chr18_11846413_11859444 | 11849501 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 6 | 438 | 0.0137 | -7 | c.-20 others(18): Show |
CHMP1B | ENSG00000255112.3 | transcript | ENST00000526991.3 | protein_coding | 1911 | chr18 | TogoVar | ||||||
CHMP2B_chr3_87222309_87260556 | 87244023 | GTTTTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG01928.hp1 HG01943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025a0001c0001t0001g0041a0001c0001t0002g0088 | 6 | 414 | 0.0145 | -7 | c.127 others(24): Show |
CHMP2B | ENSG00000083937.10 | transcript | ENST00000263780.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHMP4B_chr20_33806348_33859366 | 33849601 | AAAAAAAT | A | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0191a0001c0001t0002g0192others(2): Show | 13 | 332 | 0.0392 | -7 | c.368 others(22): Show |
CHMP4B | ENSG00000101421.4 | transcript | ENST00000217402.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHMP4C_chr8_81727448_81764515 | 81735434 | CATAGTTA | C | intron_variant | MODIFIER | HG00438.hp2 HG01167.hp2 HG01169.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0028others(25): Show | 44 | 408 | 0.1078 | -7 | c.190 others(24): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHM_chrX_85856180_86052558 | 85973325 | AAAAAAAG | A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 245 | 0.0041 | -7 | c.314 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85982097 | GGCATTTA | G | intron_variant | MODIFIER | HG02451.hp2 | a0008 | a0008c0011 | a0008c0011t0006 | a0008c0011t0006g0230 | 1 | 245 | 0.0041 | -7 | c.117 others(22): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86026102 | CTTTTTTT | C | intron_variant | MODIFIER | HG02451.hp2 | a0008 | a0008c0011 | a0008c0011t0006 | a0008c0011t0006g0230 | 1 | 245 | 0.0041 | -7 | c.116 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174814485 | TTTATATC | T | intron_variant | MODIFIER | NA18968.hp2 NA19066.hp1 NA19068.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0230a0001c0001t0001g0248others(1): Show | 4 | 276 | 0.0145 | -7 | c.713 others(24): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 8/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174891140 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01496.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0044a0001c0001t0001g0055a0001c0001t0001g0056others(15): Show | 18 | 276 | 0.0652 | -7 | c.261 others(26): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29233772 | GAAATGGA | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(97): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0015others(97): Show | 100 | 232 | 0.4310 | -7 | c.49+ others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29240864 | TCTTCTTC | T | intron_variant | MODIFIER | HG02922.hp2 HG03139.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0016a0002c0003t0018 | a0001c0002t0016g0048a0002c0003t0018g0047 | 2 | 232 | 0.0086 | -7 | c.49+ others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29336759 | CAAAAAAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02896.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0028a0001c0002t0002a0001c0002t0010others(4): Show | a0001c0001t0028g0050a0001c0002t0002g0148a0001c0002t0002g0149others(5): Show | 8 | 232 | 0.0345 | -7 | c.50- others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHORDC1_chr11_90195429_90228049 | 90214546 | AGTTATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(199): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0006a0001c0001t0002g0009a0001c0001t0002g0010others(99): Show | 202 | 412 | 0.4903 | -7 | c.172 others(22): Show |
CHORDC1 | ENSG00000110172.12 | transcript | ENST00000320585.11 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
CHP2_chr16_23750026_23763935 | 23750930 | TTTCTTTC | T | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01257.hp1 HG01928.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 6 | 392 | 0.0153 | -7 | c.-41 others(18): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4095 | chr16 | TogoVar | ||||||
CHPT1_chr12_101692640_101734074 | 101722707 | TAAAAAAA | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0109a0001c0001t0001g0112others(2): Show | 8 | 402 | 0.0199 | -7 | c.781 others(22): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110775469 | AAATGGAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(41): Show | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0026others(140): Show | 143 | 172 | 0.8314 | -7 | c.95- others(24): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 2/11 | chrX | TogoVar | ||||||
CHRFAM7A_chr15_30355566_30398540 | 30365801 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(7): Show | a0001c0001t0001g0048a0001c0001t0001g0052a0001c0001t0001g0066others(17): Show | 20 | 133 | 0.1504 | -7 | c.720 others(24): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 9/9 | chr15 | TogoVar | ||||||
CHRFAM7A_chr15_30355566_30398540 | 30389426 | ATTTTTTT | A | intron_variant | MODIFIER | HG01069.hp2 HG01256.hp2 HG02738.hp2 others(2): Show |
a0002 | a0002c0002a0002c0015a0002c0017 | a0002c0002t0007a0002c0015t0007a0002c0017t0006 | a0002c0002t0007g0023a0002c0002t0007g0024a0002c0002t0007g0025others(2): Show | 5 | 133 | 0.0376 | -7 | c.-15 others(26): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136889047 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01358.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0299a0001c0001t0005g0021a0001c0001t0006g0278others(7): Show | 10 | 320 | 0.0313 | -7 | c.-12 others(28): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 137003075 | GTCTTGTC | G | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0047 | a0001c0001t0018g0041a0001c0001t0018g0217a0001c0001t0018g0311others(1): Show | 4 | 320 | 0.0125 | -7 | c.-47 others(26): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 137023727 | AGATAGAT | A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0048a0001c0001t0078 | a0001c0001t0009g0296a0001c0001t0048g0049a0001c0001t0078g0095 | 3 | 320 | 0.0094 | -7 | c.*74 others(18): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3515 | chr7 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239488714 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0052others(30): Show | 33 | 116 | 0.2845 | -7 | c.-52 others(26): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239531639 | ATTTTTTT | A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG01243.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0054a0001c0001t0002g0048a0001c0001t0002g0107others(11): Show | 14 | 116 | 0.1207 | -7 | c.-42 others(28): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239586230 | GTGTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0010others(38): Show | 41 | 116 | 0.3535 | -7 | c.-31 others(28): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM5_chr15_33963497_34072458 | 33968099 | TAAAAAAA | T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0286a0001c0001t0006g0281a0001c0001t0006g0282others(4): Show | 7 | 338 | 0.0207 | -7 | c.-14 others(18): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 397 | chr15 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 34014384 | ACAAAAAC | A | intron_variant | MODIFIER | HG02027.hp2 HG02080.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0021 | a0001c0001t0001g0182a0001c0001t0001g0184a0001c0001t0001g0192others(3): Show | 6 | 338 | 0.0178 | -7 | c.-40 others(28): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 34029517 | CAAAAAAA | C | intron_variant | MODIFIER | HG02132.hp1 HG02258.hp2 NA18941.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0034 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0156others(3): Show | 6 | 338 | 0.0178 | -7 | c.-40 others(28): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA2_chr8_27454756_27484261 | 27457975 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(167): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0007others(8): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0003g0004a0001c0001t0003g0008a0001c0001t0003g0011others(101): Show | 170 | 458 | 0.3712 | -7 | c.*36 others(18): Show |
CHRNA2 | ENSG00000120903.13 | transcript | ENST00000407991.3 | protein_coding | 1780 | chr8 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63357049 | CCACAGGA | C | intron_variant | MODIFIER | HG00544.hp2 HG01258.hp1 HG02015.hp1 others(15): Show |
a0000a0001 | a0000c0017a0001c0003a0001c0004 | a0000c0017t0007a0001c0003t0005a0001c0004t0005others(3): Show | a0000c0017t0007g0104a0001c0003t0005g0127a0001c0004t0005g0012others(13): Show | 18 | 168 | 0.1071 | -7 | c.229 others(22): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63357061 | ATCTCCAC | A | intron_variant | MODIFIER | HG00544.hp2 HG01258.hp1 HG02015.hp1 others(15): Show |
a0000a0001 | a0000c0017a0001c0003a0001c0004 | a0000c0017t0007a0001c0003t0005a0001c0004t0005others(3): Show | a0000c0017t0007g0104a0001c0003t0005g0127a0001c0004t0005g0012others(13): Show | 18 | 168 | 0.1071 | -7 | c.229 others(22): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78577960 | ACTTTTAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(158): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0012others(139): Show | 161 | 382 | 0.4215 | -7 | c.107 others(24): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32054389 | GTGTTAAA | G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(45): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0014others(121): Show | 126 | 307 | 0.4104 | -7 | c.195 others(26): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32123381 | TAGAGATA | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(29): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0014others(120): Show | 123 | 307 | 0.4007 | -7 | c.350 others(26): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA9_chr4_40330333_40360217 | 40332372 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp2 others(25): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0003 | a0001c0005t0001g0073a0001c0005t0003g0011a0001c0005t0003g0015others(13): Show | 28 | 420 | 0.0667 | -7 | c.-30 others(18): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 2960 | chr4 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42718672 | CAAAAAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG01978.hp1 HG01978.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009 | a0001c0001t0002g0154a0001c0001t0002g0158a0001c0001t0002g0183others(3): Show | 6 | 282 | 0.0213 | -7 | c.249 others(24): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNE_chr17_4892771_4908098 | 4900042 | AACCGAAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG02071.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0033 | a0001c0001t0001g0053a0001c0001t0007g0016a0001c0001t0007g0018others(2): Show | 15 | 446 | 0.0336 | -7 | c.918 others(22): Show |
CHRNE | ENSG00000108556.10 | transcript | ENST00000649488.2 | protein_coding | 8/11 | chr17 | TogoVar | ||||||
CHRNG_chr2_232534692_232553115 | 232546306 | CTCTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00639.hp2 others(67): Show |
a0001a0007 | a0001c0002a0001c0008a0001c0016others(1): Show | a0001c0002t0003a0001c0002t0014a0001c0002t0020others(4): Show | a0001c0002t0003g0006a0001c0002t0003g0012a0001c0002t0003g0013others(27): Show | 70 | 434 | 0.1613 | -7 | c.*59 others(16): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 12/12 | 592 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CHST11_chr12_104451948_104767014 | 104587827 | GTTTGTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(141): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(141): Show | 144 | 240 | 0.6000 | -7 | c.119 others(26): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104605152 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG02257.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0002g0096a0001c0001t0003g0218a0001c0001t0014g0192others(3): Show | 6 | 240 | 0.0250 | -7 | c.204 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104635084 | TCCTGCCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0033a0001c0001t0001g0034others(54): Show | 57 | 240 | 0.2375 | -7 | c.204 others(26): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |