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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR1B_chr12_51946699_52002078 | 51977607 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(55): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0180 others(50): Show |
58 | 324 | 0.1790 | 1 | c.580 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51977783 | A | AT | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp2 others(55): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0121 others(49): Show |
58 | 324 | 0.1790 | 1 | c.580 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51978699 | C | CG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(314): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(280): Show |
317 | 324 | 0.9784 | 1 | c.580 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51978829 | C | CA | intron_variant | MODIFIER | HG00738.hp2 HG01168.hp2 HG01358.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 others(25): Show |
29 | 324 | 0.0895 | 1 | c.581 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51979163 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(158): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0201 others(143): Show |
161 | 324 | 0.4969 | 1 | c.581 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51979236 | C | CG | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0019 | a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 others(6): Show |
10 | 324 | 0.0309 | 1 | c.581 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51979466 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(259): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(229): Show |
262 | 324 | 0.8086 | 1 | c.581 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51989991 | G | GA | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0210 a0001c0001t0007g0124 a0001c0001t0009g0016 others(4): Show |
8 | 324 | 0.0247 | 1 | c.126 others(10): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51990312 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(221): Show |
258 | 324 | 0.7963 | 1 | c.126 others(10): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | T | TA | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01169.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0047 others(15): Show |
19 | 324 | 0.0586 | 1 | c.139 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51995689 | T | TA | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 others(135): Show |
155 | 324 | 0.4784 | 1 | c.*15 others(6): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 1591 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1B_chr12_51946699_52002078 | 52001369 | C | CA | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01106.hp2 others(31): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0026 others(31): Show |
34 | 324 | 0.1049 | 1 | c.*72 others(12): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4292 | chr12 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157526504 | C | CA | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(6): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0006a0002c0003t0014a0002c0004t0006 | a0002c0003t0006g0081 a0002c0003t0006g0082 a0002c0003t0006g0092 others(6): Show |
9 | 216 | 0.0417 | 1 | c.*74 others(12): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 262 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157531069 | A | AT | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01433.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0004a0001c0001t0022a0001c0001t0036others(7): Show | a0001c0001t0004g0139 a0001c0001t0004g0170 a0001c0001t0004g0172 others(25): Show |
28 | 216 | 0.1296 | 1 | c.*28 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 2848 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157532373 | G | GT | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01168.hp1 HG01169.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0005a0001c0001t0022a0001c0002t0005others(9): Show | a0001c0001t0005g0149 a0001c0001t0005g0155 a0001c0001t0005g0213 others(21): Show |
24 | 216 | 0.1111 | 1 | c.*15 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1544 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157534140 | C | CT | intron_variant | MODIFIER | HG01891.hp1 HG02630.hp2 HG03453.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002 | a0001c0002t0001g0094 a0002c0003t0002g0022 a0002c0003t0002g0023 others(2): Show |
5 | 216 | 0.0232 | 1 | c.135 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157535143 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG02004.hp2 HG02280.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0012a0001c0001t0029others(4): Show | a0001c0001t0003g0058 a0001c0001t0003g0162 a0001c0001t0003g0163 others(16): Show |
19 | 216 | 0.0880 | 1 | c.135 others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157544202 | A | AT | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp1 HG01358.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(16): Show | a0001c0001t0001g0020 a0001c0001t0001g0196 a0001c0001t0004g0184 others(20): Show |
23 | 216 | 0.1065 | 1 | c.943 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157549660 | T | TA | intron_variant | MODIFIER | HG02109.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0165 a0001c0001t0011g0166 |
2 | 216 | 0.0093 | 1 | c.775 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157549829 | C | CA | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01243.hp2 others(27): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0154 others(27): Show |
30 | 216 | 0.1389 | 1 | c.775 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157550002 | C | CA | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02647.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0029a0001c0002t0003a0001c0002t0014others(3): Show | a0001c0001t0029g0014 a0001c0002t0003g0093 a0001c0002t0014g0049 others(5): Show |
8 | 216 | 0.0370 | 1 | c.775 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157550734 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(127): Show |
131 | 216 | 0.6065 | 1 | c.545 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157553396 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(59): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0013others(6): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0036others(24): Show | a0001c0001t0005g0149 a0001c0001t0005g0213 a0001c0001t0011g0165 others(59): Show |
62 | 216 | 0.2870 | 1 | c.544 others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157555101 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0020 a0001c0001t0001g0145 a0001c0001t0001g0148 others(37): Show |
40 | 216 | 0.1852 | 1 | c.544 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157556140 | G | GT | frameshift_variant | HIGH | HG04115.hp1 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0164 | 1 | 216 | 0.0046 | 1 | c.496 others(4): Show |
p.Thr others(5): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/9 | 716/8853 | 496/1482 | 166/493 | chr2 | TogoVar | |||
ACVR1C_chr2_157521767_157633864 | 157556657 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00621.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0196 others(16): Show |
19 | 216 | 0.0880 | 1 | c.305 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157557164 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(60): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0147 others(59): Show |
63 | 216 | 0.2917 | 1 | c.305 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157562303 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(17): Show | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0005g0213 others(52): Show |
56 | 216 | 0.2593 | 1 | c.305 others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157562305 | A | AT | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02602.hp2 others(9): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0003others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0019others(8): Show | a0001c0002t0003g0093 a0001c0002t0005g0095 a0001c0002t0019g0091 others(9): Show |
12 | 216 | 0.0556 | 1 | c.305 others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157565136 | T | TA | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02630.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002a0002c0003t0008others(2): Show | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(10): Show |
13 | 216 | 0.0602 | 1 | c.305 others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157572366 | T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(20): Show | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0005g0213 others(46): Show |
50 | 216 | 0.2315 | 1 | c.304 others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157575131 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0035a0001c0002t0001a0001c0002t0003others(12): Show | a0001c0001t0035g0142 a0001c0002t0001g0027 a0001c0002t0001g0030 others(59): Show |
62 | 216 | 0.2870 | 1 | c.304 others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157575231 | C | CG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(20): Show | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0005g0213 others(51): Show |
55 | 216 | 0.2546 | 1 | c.304 others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157576203 | C | CT | intron_variant | MODIFIER | HG01978.hp2 HG02071.hp1 HG02109.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0159 a0001c0001t0001g0200 a0001c0001t0003g0179 others(3): Show |
6 | 216 | 0.0278 | 1 | c.304 others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157576835 | C | CT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01256.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0019 others(17): Show |
20 | 216 | 0.0926 | 1 | c.304 others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157584044 | T | TA | intron_variant | MODIFIER | HG01433.hp2 HG01515.hp2 HG01516.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0022a0003c0006t0005 | a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0022g0168 others(2): Show |
5 | 216 | 0.0232 | 1 | c.304 others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157584173 | T | TA | intron_variant | MODIFIER | HG02071.hp2 HG03239.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0005g0213 others(2): Show |
5 | 216 | 0.0232 | 1 | c.304 others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157598542 | G | GT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0207 a0001c0001t0003g0058 a0001c0002t0001g0041 others(35): Show |
38 | 216 | 0.1759 | 1 | c.74- others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157599314 | C | CA | intron_variant | MODIFIER | HG00741.hp2 HG01515.hp2 HG01975.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0146 others(14): Show |
17 | 216 | 0.0787 | 1 | c.74- others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157606285 | T | TA | intron_variant | MODIFIER | HG02572.hp2 HG02976.hp1 HG03209.hp1 |
a0002 | a0002c0005 | a0002c0005t0008a0002c0005t0009 | a0002c0005t0008g0004 a0002c0005t0008g0005 a0002c0005t0009g0009 |
3 | 216 | 0.0139 | 1 | c.74- others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157613450 | G | GT | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02280.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0035a0001c0002t0001a0001c0002t0003others(9): Show | a0001c0001t0035g0142 a0001c0002t0001g0027 a0001c0002t0001g0030 others(20): Show |
23 | 216 | 0.1065 | 1 | c.73+ others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157615318 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01074.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(6): Show | a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 others(14): Show |
17 | 216 | 0.0787 | 1 | c.73+ others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157630594 | C | CA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01192.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0030a0001c0002t0001others(6): Show | a0001c0001t0001g0199 a0001c0001t0030g0098 a0001c0002t0001g0068 others(9): Show |
12 | 216 | 0.0556 | 1 | c.-19 others(12): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1731 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157630902 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(101): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(101): Show |
104 | 216 | 0.4815 | 1 | c.-22 others(12): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2039 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157632857 | C | CT | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00642.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0206 a0001c0001t0003g0179 a0001c0002t0001g0069 others(21): Show |
25 | 216 | 0.1157 | 1 | c.-42 others(12): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3994 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157731783 | T | TA | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02922.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0004t0008a0001c0004t0009others(1): Show | a0001c0002t0005g0002 a0001c0004t0008g0030 a0001c0004t0008g0110 others(5): Show |
8 | 174 | 0.0460 | 1 | c.*57 others(12): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4662 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157747752 | T | TG | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0009a0001c0004t0021 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | 174 | 0.0402 | 1 | c.126 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157747814 | C | CA | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01891.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(12): Show | a0001c0001t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 others(31): Show |
34 | 174 | 0.1954 | 1 | c.126 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157748631 | T | TA | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | 174 | 0.0345 | 1 | c.126 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157757445 | A | AT | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004a0001c0003t0005 | a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0019 others(5): Show |
8 | 174 | 0.0460 | 1 | c.126 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar |