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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SQSTM1_chr5_179815905_179843078 | 179821072 | CG | C | frameshift_variant | HIGH | NA18991.hp2 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0396 | 1 | 462 | 0.0022 | -1 | c.138 others(4): Show |
p.Leu others(4): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 1/8 | 170/2840 | 138/1323 | 46/440 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SQSTM1_chr5_179815905_179843078 | 179821946 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(80): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 others(72): Show |
83 | 462 | 0.1797 | -1 | c.205 others(8): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179823445 | CA | C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00609.hp1 others(67): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(55): Show |
70 | 462 | 0.1515 | -1 | c.302 others(8): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179824035 | AC | A | frameshift_variant | HIGH | NA18946.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0348 | 1 | 462 | 0.0022 | -1 | c.481 others(4): Show |
p.Arg others(5): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 3/8 | 513/2840 | 481/1323 | 161/440 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SQSTM1_chr5_179815905_179843078 | 179826598 | GT | G | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02922.hp1 others(6): Show |
a0001a0009 | a0001c0002a0001c0003a0009c0026 | a0001c0002t0006a0001c0003t0003a0001c0003t0006others(3): Show | a0001c0002t0006g0151 a0001c0003t0003g0156 a0001c0003t0006g0148 others(6): Show |
9 | 462 | 0.0195 | -1 | c.754 others(9): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179828353 | CT | C | intron_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01081.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0011a0001c0003t0003 | a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0104 others(9): Show |
12 | 462 | 0.0260 | -1 | c.754 others(9): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179828369 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00738.hp2 others(21): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(6): Show | a0001c0001t0001g0018 a0001c0001t0001g0112 a0001c0001t0001g0185 others(20): Show |
24 | 462 | 0.0520 | -1 | c.754 others(9): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179830131 | AC | A | intron_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01081.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(13): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0138 others(55): Show |
60 | 462 | 0.1299 | -1 | c.755 others(9): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179834155 | GA | G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0014others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0173 a0001c0002t0001g0016 others(4): Show |
9 | 462 | 0.0195 | -1 | c.116 others(9): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 7/7 | chr5 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179834156 | AG | A | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01243.hp1 others(32): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(11): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 others(28): Show |
35 | 462 | 0.0758 | -1 | c.116 others(9): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179834243 | GT | G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02040.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0006a0001c0002t0014others(5): Show | a0001c0001t0001g0343 a0001c0002t0006g0056 a0001c0002t0014g0051 others(9): Show |
12 | 462 | 0.0260 | -1 | c.116 others(9): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 7/7 | chr5 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179841330 | AG | A | downstream_gene_variant | MODIFIER | NA18952.hp1 NA18969.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0313 others(2): Show |
5 | 462 | 0.0108 | -1 | c.*47 others(6): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 3253 | chr5 | TogoVar | |||||||
SRA1_chr5_140545068_140562473 | 140552653 | CA | C | intron_variant | MODIFIER | HG01515.hp2 NA18962.hp1 NA18968.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0083 a0001c0003t0001g0025 a0002c0001t0001g0015 |
8 | 402 | 0.0199 | -1 | c.152 others(8): Show |
SRA1 | ENSG00000213523.12 | transcript | ENST00000336283.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SRA1_chr5_140545068_140562473 | 140553307 | TA | T | intron_variant | MODIFIER | HG00323.hp2 HG01517.hp2 HG02897.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0002t0001g0039 a0001c0002t0001g0079 a0001c0003t0001g0016 others(4): Show |
10 | 402 | 0.0249 | -1 | c.152 others(9): Show |
SRA1 | ENSG00000213523.12 | transcript | ENST00000336283.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SRA1_chr5_140545068_140562473 | 140556671 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(146): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0002t0001g0034 a0001c0002t0001g0072 a0001c0002t0001g0073 others(27): Show |
149 | 402 | 0.3707 | -1 | c.151 others(8): Show |
SRA1 | ENSG00000213523.12 | transcript | ENST00000336283.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SRA1_chr5_140545068_140562473 | 140557095 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(104): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0083 others(18): Show |
107 | 402 | 0.2662 | -1 | c.151 others(7): Show |
SRA1 | ENSG00000213523.12 | transcript | ENST00000336283.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SRARP_chr1_15999236_16013807 | 16002974 | TA | T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02451.hp2 others(18): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0027 others(3): Show |
21 | 400 | 0.0525 | -1 | c.-13 others(6): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 1261 | chr1 | TogoVar | |||||||
SRARP_chr1_15999236_16013807 | 16004713 | CA | C | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01168.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0027 a0001c0001t0002g0028 a0001c0001t0003g0021 others(3): Show |
8 | 400 | 0.0200 | -1 | c.82+ others(7): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRARP_chr1_15999236_16013807 | 16006032 | GC | G | frameshift_variant | HIGH | NA18981.hp2 | a0007 | a0007c0009 | a0007c0009t0018 | a0007c0009t0018g0002 | 1 | 400 | 0.0025 | -1 | c.201 others(4): Show |
p.Ser others(4): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 2/2 | 269/3039 | 201/510 | 67/169 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SRARP_chr1_15999236_16013807 | 16006219 | GC | G | frameshift_variant | HIGH | NA18981.hp2 | a0007 | a0007c0009 | a0007c0009t0018 | a0007c0009t0018g0002 | 1 | 400 | 0.0025 | -1 | c.388 others(4): Show |
p.Gln others(5): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 2/2 | 456/3039 | 388/510 | 130/169 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SRARP_chr1_15999236_16013807 | 16006307 | GA | G | frameshift_variant | HIGH | NA18981.hp2 | a0007 | a0007c0009 | a0007c0009t0018 | a0007c0009t0018g0002 | 1 | 400 | 0.0025 | -1 | c.474 others(4): Show |
p.Ala others(5): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 2/2 | 542/3039 | 474/510 | 158/169 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SRARP_chr1_15999236_16013807 | 16006311 | GC | G | frameshift_variant | HIGH | NA18965.hp2 | a0006 | a0006c0016 | a0006c0016t0037 | a0006c0016t0037g0002 | 1 | 400 | 0.0025 | -1 | c.478 others(4): Show |
p.Leu others(5): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 2/2 | 546/3039 | 478/510 | 160/169 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SRARP_chr1_15999236_16013807 | 16007248 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(165): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(15): Show | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0026 others(28): Show |
168 | 400 | 0.4200 | -1 | c.*91 others(5): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 2/2 | 918 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SRARP_chr1_15999236_16013807 | 16008807 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(322): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(39): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(63): Show |
325 | 400 | 0.8125 | -1 | c.*24 others(6): Show |
SRARP | ENSG00000183888.4 | transcript | ENST00000329454.2 | protein_coding | 1 | chr1 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45384192 | TG | T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG03017.hp1 HG03942.hp2 others(1): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0003 a0002c0004t0001g0076 a0002c0004t0001g0078 others(1): Show |
4 | 358 | 0.0112 | -1 | c.*51 others(6): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4487 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45409515 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0005a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0138 others(143): Show |
147 | 358 | 0.4106 | -1 | c.251 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 19/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45414812 | AC | A | intron_variant | MODIFIER | HG00741.hp1 HG02258.hp1 HG02976.hp1 others(3): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0001 | a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0010 others(3): Show |
6 | 358 | 0.0168 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45414842 | AC | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0225 others(39): Show |
42 | 358 | 0.1173 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45414871 | CA | C | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0252 a0001c0001t0001g0261 |
3 | 358 | 0.0084 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45414901 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(97): Show |
a0001a0003a0009others(2): Show | a0001c0001a0001c0005a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0005t0001others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0054 others(97): Show |
100 | 358 | 0.2793 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45414970 | TG | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp1 others(35): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 others(35): Show |
38 | 358 | 0.1062 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415002 | TG | T | intron_variant | MODIFIER | HG02965.hp1 HG04228.hp1 NA18983.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0025 a0001c0001t0001g0209 a0001c0001t0001g0212 others(2): Show |
5 | 358 | 0.0140 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415098 | TG | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01361.hp1 others(19): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0001a0003c0003t0001a0006c0007t0001 | a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0163 others(19): Show |
22 | 358 | 0.0615 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415130 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(55): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0003a0006c0007others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0004others(3): Show | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0147 others(55): Show |
58 | 358 | 0.1620 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415162 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(92): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0005a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(5): Show | a0001c0001t0001g0027 a0001c0001t0001g0145 a0001c0001t0001g0146 others(92): Show |
95 | 358 | 0.2654 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415194 | TG | T | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00733.hp2 others(46): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0019others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0083 others(45): Show |
49 | 358 | 0.1369 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415226 | TG | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG02145.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0020 | a0001c0001t0001a0002c0002t0001a0004c0020t0001 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0249 others(4): Show |
7 | 358 | 0.0196 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415258 | TG | T | intron_variant | MODIFIER | HG00423.hp2 HG02723.hp1 NA18951.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0054 a0002c0002t0001g0080 a0002c0002t0001g0081 |
3 | 358 | 0.0084 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45416277 | AC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(49): Show |
a0001a0007a0008 | a0001c0001a0007c0015a0008c0013 | a0001c0001t0001a0007c0015t0001a0008c0013t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0180 others(48): Show |
52 | 358 | 0.1453 | -1 | c.233 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45418676 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(162): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0014others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0137 others(161): Show |
165 | 358 | 0.4609 | -1 | c.215 others(9): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 17/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45420072 | CT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0014a0002c0002a0002c0008others(5): Show | a0001c0014t0001a0002c0002t0001a0002c0002t0005others(6): Show | a0001c0014t0001g0178 a0002c0002t0001g0003 a0002c0002t0001g0005 others(67): Show |
70 | 358 | 0.1955 | -1 | c.205 others(9): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45421509 | AC | A | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02738.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0145 a0001c0001t0001g0165 others(4): Show |
7 | 358 | 0.0196 | -1 | c.205 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45421510 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG02015.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0006a0002c0004t0001 | a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 others(16): Show |
19 | 358 | 0.0531 | -1 | c.205 others(10): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45433440 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(29): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0001a0003c0003t0004 | a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 others(29): Show |
32 | 358 | 0.0894 | -1 | c.205 others(11): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45435573 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0014others(12): Show | a0001c0001t0001a0001c0005t0001a0001c0014t0001others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(226): Show |
230 | 358 | 0.6425 | -1 | c.205 others(11): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45437357 | TA | T | intron_variant | MODIFIER | HG01496.hp1 HG01516.hp2 HG02040.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 others(13): Show |
16 | 358 | 0.0447 | -1 | c.205 others(11): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45439792 | GA | G | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01069.hp2 others(44): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(10): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(11): Show | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 others(44): Show |
47 | 358 | 0.1313 | -1 | c.205 others(11): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45443805 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0014t0001others(6): Show | a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0064 others(78): Show |
81 | 358 | 0.2263 | -1 | c.205 others(11): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45445412 | TG | T | intron_variant | MODIFIER | HG00140.hp1 HG01255.hp2 HG01256.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 others(6): Show |
9 | 358 | 0.0251 | -1 | c.205 others(11): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45445550 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01255.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0222 others(11): Show |
14 | 358 | 0.0391 | -1 | c.205 others(11): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar |