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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD1L_chr1_147237684_147300762 | 147288339 | A | AGAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(65): Show |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0001a0002c0002t0001 | a0001c0007t0001g0029 a0001c0007t0001g0142 a0001c0007t0001g0143 others(47): Show |
68 | 410 | 0.1659 | 7 | c.232 others(24): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | chr1 | TogoVar | |||||||
CHD1L_chr1_147237684_147300762 | 147288346 | A | AAAAAAAG | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 HG02027.hp2 others(9): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0003a0001c0009t0003a0001c0010t0003others(1): Show | a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 others(9): Show |
12 | 387 | 0.0310 | 7 | c.232 others(24): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | chr1 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98917299 | C | CCAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp2 HG01243.hp1 others(26): Show |
a0002a0005 | a0002c0002a0005c0009 | a0002c0002t0002a0002c0002t0005a0002c0002t0007others(5): Show | a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 others(25): Show |
29 | 129 | 0.2248 | 7 | c.53+ others(22): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD2_chr15_92895324_93032996 | 92909073 | G | GACACACC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0027 others(90): Show |
94 | 304 | 0.3092 | 7 | c.62+ others(22): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92965565 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG02735.hp1 others(3): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0008a0001c0017t0009 | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0271 others(3): Show |
6 | 30 | 0.2000 | 7 | c.200 others(26): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6580727 | A | AAAAAAAG | intron_variant | MODIFIER | HG02145.hp2 HG03453.hp1 HG03579.hp1 others(3): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0002t0002a0001c0013t0002 | a0001c0002t0001g0268 a0001c0002t0002g0055 a0001c0002t0002g0057 others(3): Show |
6 | 354 | 0.0169 | 7 | c.490 others(24): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 33/39 | chr12 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41504077 | C | CAAAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02970.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0025a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0215 others(8): Show |
11 | 131 | 0.0840 | 7 | c.853 others(24): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41580645 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG01358.hp1 others(12): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0055 a0001c0001t0001g0223 a0001c0001t0001g0275 others(12): Show |
15 | 148 | 0.1014 | 7 | c.-23 others(26): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
CHD7_chr8_60673740_60873028 | 60679204 | C | CGGGGCGA | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG03041.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0006a0001c0008t0011 | a0001c0002t0006g0234 a0001c0002t0006g0235 a0001c0008t0011g0236 |
3 | 233 | 0.0129 | 7 | c.-17 others(24): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60680408 | G | GCGGGGGC | intron_variant | MODIFIER | NA18962.hp2 NA18986.hp1 NA19057.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0036a0001c0001t0040 | a0001c0001t0004g0045 a0001c0001t0004g0127 a0001c0001t0036g0126 others(1): Show |
4 | 185 | 0.0216 | 7 | c.-17 others(26): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21457628 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG03471.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0016 | a0001c0001t0001a0002c0002t0001a0004c0016t0003 | a0001c0001t0001g0140 a0001c0001t0001g0154 a0002c0002t0001g0119 others(2): Show |
5 | 23 | 0.2174 | 7 | c.-18 others(18): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53204044 | A | ATATATAT | intron_variant | MODIFIER | HG02970.hp1 HG03688.hp2 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0049 a0001c0005t0005g0081 |
2 | 234 | 0.0085 | 7 | c.145 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53204046 | A | ATATATAT | intron_variant | MODIFIER | HG04184.hp2 NA18981.hp2 NA19068.hp1 others(1): Show |
a0001a0008 | a0001c0005a0008c0018 | a0001c0005t0005a0008c0018t0005 | a0001c0005t0005g0106 a0001c0005t0005g0129 a0001c0005t0005g0145 others(1): Show |
4 | 198 | 0.0202 | 7 | c.145 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | chr16 | TogoVar | |||||||
CHGA_chr14_92918150_92940285 | 92920654 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0007others(3): Show | a0001c0001t0001a0001c0005t0001a0002c0007t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(11): Show |
28 | 69 | 0.4058 | 7 | c.-27 others(18): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2495 | chr14 | TogoVar | |||||||
CHI3L2_chr1_111222713_111248440 | 111229681 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01106.hp1 HG01123.hp1 others(50): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0002t0004a0001c0002t0006others(5): Show | a0001c0001t0003g0010 a0001c0001t0003g0093 a0001c0001t0003g0096 others(21): Show |
53 | 156 | 0.3397 | 7 | c.41- others(20): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68113081 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00621.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0231 others(14): Show |
17 | 93 | 0.1828 | 7 | c.350 others(24): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 252401 | T | TATATATA | intron_variant | MODIFIER | HG02602.hp1 HG02809.hp1 NA18964.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001 | a0001c0001t0002g0119 a0001c0001t0002g0192 a0003c0003t0001g0106 |
3 | 282 | 0.0106 | 7 | c.-95 others(24): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 333124 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01258.hp1 others(6): Show |
a0001a0004a0011others(2): Show | a0001c0001a0004c0004a0011c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0129 a0001c0001t0001g0221 a0001c0001t0001g0271 others(6): Show |
9 | 91 | 0.0989 | 7 | c.385 others(24): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 393232 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG03490.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0003g0115 others(4): Show |
7 | 40 | 0.1750 | 7 | c.291 others(26): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHMP4A_chr14_24204615_24218488 | 24209812 | A | AGCACTTG | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0013 a0001c0001t0002g0040 a0001c0001t0002g0057 others(1): Show |
7 | 416 | 0.0168 | 7 | c.*58 others(14): Show |
CHMP4A | ENSG00000254505.11 | transcript | ENST00000347519.12 | protein_coding | 6/6 | 64 | chr14 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80991416 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp2 others(115): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0047 others(24): Show |
118 | 263 | 0.4487 | 7 | c.-50 others(16): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 424 | chr17 | TogoVar | |||||||
CHMP7_chr8_23238637_23266999 | 23264115 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02004.hp2 HG03490.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0003g0010 others(4): Show |
7 | 41 | 0.1707 | 7 | c.*35 others(18): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2117 | chr8 | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174801339 | C | CTTGCAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(105): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0094 others(105): Show |
108 | 273 | 0.3956 | 7 | c.120 others(24): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29454220 | T | TAGAGAAC | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(53): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 others(53): Show |
56 | 230 | 0.2435 | 7 | c.577 others(26): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29456620 | C | CACCACCA | intron_variant | MODIFIER | HG01175.hp2 HG02886.hp1 HG03209.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0006a0003c0007t0013 | a0001c0001t0006g0114 a0001c0001t0006g0225 a0001c0001t0006g0227 others(1): Show |
4 | 202 | 0.0198 | 7 | c.577 others(26): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29473470 | G | GTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0003g0048 a0001c0001t0003g0185 a0001c0001t0003g0187 others(15): Show |
18 | 155 | 0.1161 | 7 | c.577 others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29473482 | T | TTTTTGTG | intron_variant | MODIFIER | HG01952.hp2 NA18612.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0005g0107 a0001c0001t0006g0197 a0001c0001t0007g0153 others(2): Show |
5 | 129 | 0.0388 | 7 | c.577 others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29473482 | T | TTTTTTTG | intron_variant | MODIFIER | HG01168.hp2 HG01257.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0148 a0001c0001t0006g0012 a0001c0001t0007g0024 others(2): Show |
5 | 129 | 0.0388 | 7 | c.577 others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29498758 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG01928.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(11): Show | a0001c0001t0003g0188 a0001c0001t0011g0173 a0001c0001t0012g0091 others(13): Show |
16 | 65 | 0.2462 | 7 | c.740 others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHORDC1_chr11_90195429_90228049 | 90207761 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01123.hp2 HG02071.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0025 a0001c0001t0002g0080 a0001c0001t0002g0089 others(11): Show |
32 | 46 | 0.6957 | 7 | c.493 others(24): Show |
CHORDC1 | ENSG00000110172.12 | transcript | ENST00000320585.11 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
CHPT1_chr12_101692640_101734074 | 101724754 | A | ATAGATAT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(176): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0025 others(108): Show |
179 | 400 | 0.4475 | 7 | c.106 others(24): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136867617 | T | TATATATA | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0040a0001c0001t0048 | a0001c0001t0015g0046 a0001c0001t0015g0048 a0001c0001t0040g0047 others(1): Show |
4 | 318 | 0.0126 | 7 | c.-16 others(18): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 1034 | chr7 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239404721 | T | TATATATA | intron_variant | MODIFIER | HG03927.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0053 a0001c0001t0023g0007 |
2 | 114 | 0.0175 | 7 | c.-52 others(28): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239610190 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG01109.hp1 HG01981.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0002g0048 others(12): Show |
15 | 19 | 0.7895 | 7 | c.-31 others(28): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239793803 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0109 a0001c0001t0002g0014 others(3): Show |
6 | 21 | 0.2857 | 7 | c.-14 others(28): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239813916 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01243.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0109 a0001c0001t0002g0069 a0001c0001t0003g0039 others(15): Show |
18 | 35 | 0.5143 | 7 | c.-14 others(28): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239881282 | C | CAAAAAAA | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0062 a0001c0001t0004g0064 a0001c0001t0005g0077 others(2): Show |
5 | 6 | 0.8333 | 7 | c.-19 others(26): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 33968099 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00735.hp2 others(61): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 others(60): Show |
64 | 85 | 0.7529 | 7 | c.-14 others(18): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 397 | chr15 | TogoVar | |||||||
CHRNA10_chr11_3660587_3676384 | 3663076 | A | ATCTCATC | downstream_gene_variant | MODIFIER | HG02015.hp1 HG02080.hp2 HG02717.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(4): Show |
14 | 383 | 0.0366 | 7 | c.*30 others(18): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2510 | chr11 | TogoVar | |||||||
CHRNA10_chr11_3660587_3676384 | 3663089 | A | ATCTCATC | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02818.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 3 | 215 | 0.0140 | 7 | c.*30 others(18): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2497 | chr11 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78585791 | C | CCTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01358.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0027others(1): Show | a0001c0001t0007g0010 a0001c0001t0007g0021 a0001c0001t0007g0022 others(9): Show |
14 | 141 | 0.0993 | 7 | c.259 others(22): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78585791 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0007a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(18): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 others(182): Show |
213 | 340 | 0.6265 | 7 | c.259 others(22): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA9_chr4_40330333_40360217 | 40340973 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(38): Show |
a0002 | a0002c0003a0002c0009 | a0002c0003t0001a0002c0009t0001 | a0002c0003t0001g0004 a0002c0003t0001g0007 a0002c0003t0001g0019 others(14): Show |
41 | 287 | 0.1429 | 7 | c.365 others(24): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42717403 | A | AAAAAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0094 a0001c0001t0002g0166 a0001c0001t0002g0167 others(3): Show |
6 | 21 | 0.2857 | 7 | c.249 others(24): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNG_chr2_232534692_232553115 | 232546966 | G | GGCAATAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(260): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(20): Show | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0011 others(69): Show |
263 | 432 | 0.6088 | 7 | c.*12 others(18): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 12/12 | 1253 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104454400 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0056 | a0001c0001t0003g0026 a0001c0001t0003g0218 a0001c0001t0017g0015 others(2): Show |
5 | 73 | 0.0685 | 7 | c.-30 others(18): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2547 | chr12 | TogoVar | |||||||
CHST11_chr12_104451948_104767014 | 104596584 | C | CCTTGCTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(211): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 others(211): Show |
214 | 238 | 0.8992 | 7 | c.119 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104606163 | T | TGGGGCGG | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0030 | a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0003g0228 others(1): Show |
4 | 237 | 0.0169 | 7 | c.204 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2411490 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(72): Show | a0001c0001t0003g0002 a0001c0001t0003g0137 a0001c0001t0006g0002 others(81): Show |
85 | 113 | 0.7522 | 7 | c.-78 others(24): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2432141 | C | CAAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0042a0001c0001t0070others(4): Show | a0001c0001t0019g0112 a0001c0001t0042g0047 a0001c0001t0070g0017 others(4): Show |
7 | 43 | 0.1628 | 7 | c.-77 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |