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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASS1_chr9_130439961_130506274 | 130454747 | GCCATCCA others(39): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02630.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0164 a0001c0001t0001g0342 others(9): Show |
14 | 372 | 0.0376 | -46 | c.174 others(61): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117060396 | AAGAAAGA others(39): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 99 | 0.0101 | -46 | c.127 others(67): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325623 | TACATACA others(39): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG03041.hp2 HG03516.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 a0001c0003t0001g0151 a0001c0003t0001g0152 |
3 | 168 | 0.0179 | -46 | c.364 others(63): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(39): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 a0001c0001t0002g0100 |
2 | 135 | 0.0148 | -46 | c.364 others(63): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATP1B4_chrX_120357089_120388237 | 120374520 | CATATACC others(39): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 | 1 | 334 | 0.0030 | -46 | c.563 others(61): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP5F1E_chr20_59020475_59037335 | 59030162 | TAAATTAT others(39): Show |
T | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 402 | 0.0025 | -46 | c.*3+ others(58): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86145209 | AAGAAAGA others(39): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp1 HG01884.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(27): Show |
31 | 358 | 0.0866 | -46 | c.639 others(63): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546473 | TGTGTATA others(39): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG01109.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0048 a0001c0001t0001g0077 others(21): Show |
29 | 408 | 0.0711 | -46 | c.-46 others(57): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3897 | chr2 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755700 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 277 | 0.0036 | -46 | c.127 others(63): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25528731 | TACATATG others(39): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03098.hp2 |
a0001 | a0001c0010 | a0001c0010t0012a0001c0010t0056 | a0001c0010t0012g0090 a0001c0010t0056g0002 |
2 | 108 | 0.0185 | -46 | c.222 others(63): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25528754 | TACATATG others(39): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0019 | a0001c0019t0007 | a0001c0019t0007g0028 | 1 | 79 | 0.0127 | -46 | c.222 others(63): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B2_chr1_154320525_154356304 | 154349880 | TGCTTCCT others(39): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0137 | 1 | 380 | 0.0026 | -46 | c.*76 others(55): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 28/28 | 763 | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357912 | CCTGGGTC others(39): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(125): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(25): Show | a0001c0001t0001g0044 a0001c0001t0001g0086 a0001c0001t0002g0079 others(125): Show |
128 | 296 | 0.4324 | -46 | c.290 others(65): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358500 | GTGTCCTG others(39): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01346.hp1 NA18612.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0005 | a0001c0001t0001a0001c0015t0001a0002c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0045 others(9): Show |
12 | 296 | 0.0405 | -46 | c.290 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358863 | CTGGGTCT others(39): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0033 | a0002c0033t0002 | a0002c0033t0002g0212 | 1 | 296 | 0.0034 | -46 | c.290 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79374257 | AAGGCGCT others(39): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0154 | 1 | 285 | 0.0035 | -46 | c.327 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79374357 | GAGCCCCG others(39): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(96): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(96): Show |
99 | 296 | 0.3345 | -46 | c.327 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79374403 | AAGCCCCG others(39): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(8): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0007a0002c0002t0001 | a0001c0006t0007g0287 a0001c0006t0007g0288 a0001c0006t0007g0290 others(8): Show |
11 | 129 | 0.0853 | -46 | c.327 others(63): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(39): Show |
G | intron_variant | MODIFIER | HG01517.hp1 HG02258.hp1 HG02280.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0009 a0002c0002t0001g0010 a0002c0002t0002g0001 others(1): Show |
4 | 174 | 0.0230 | -46 | c.287 others(61): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 283969 | ATTCTCCT others(39): Show |
A | downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 376 | 0.0027 | -46 | c.*41 others(57): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 3470 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 292876 | GAGGGCGC others(39): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0003a0001c0005t0004 | a0001c0002t0001g0151 a0001c0005t0003g0108 a0001c0005t0004g0112 others(4): Show |
7 | 376 | 0.0186 | -46 | c.218 others(63): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 8/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 292882 | GCAGTGAG others(39): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(11): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0003a0001c0003t0007others(5): Show | a0001c0002t0001g0126 a0001c0003t0003g0185 a0001c0003t0003g0224 others(11): Show |
14 | 370 | 0.0378 | -46 | c.218 others(63): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 8/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 292908 | GTCCCGGA others(39): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0004others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0087 others(10): Show |
13 | 375 | 0.0347 | -46 | c.218 others(63): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 8/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 292912 | CGGATGAG others(39): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0083 | 1 | 365 | 0.0027 | -46 | c.218 others(63): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 8/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 292932 | TGAGGAGG others(39): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 364 | 0.0027 | -46 | c.218 others(63): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 8/10 | chr16 | TogoVar | |||||||
B3GAT1_chr11_134373508_134417242 | 134385558 | GATGGGTG others(39): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012 | a0001c0001t0002g0295 a0001c0001t0003g0180 a0001c0001t0012g0240 others(2): Show |
5 | 350 | 0.0143 | -46 | c.113 others(63): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38188631 | ATATACAT others(39): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 304 | 0.0033 | -46 | c.271 others(63): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAG5_chr14_103551551_103567657 | 103565284 | ATTATAGA others(39): Show |
A | upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -46 | c.-27 others(57): Show |
BAG5 | ENSG00000166170.12 | transcript | ENST00000299204.6 | protein_coding | 2628 | chr14 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81438730 | CTCACTGC others(39): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 330 | 0.0030 | -46 | c.481 others(61): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 4/27 | chr17 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 87975572 | CATGTGCG others(39): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0152 | 1 | 303 | 0.0033 | -46 | c.70+ others(59): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 87975694 | GGTGTGTG others(39): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0008a0001c0031 | a0001c0008t0001a0001c0031t0001 | a0001c0008t0001g0163 a0001c0008t0001g0164 a0001c0008t0001g0165 others(2): Show |
5 | 350 | 0.0143 | -46 | c.70+ others(59): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87975808 | CGGCGTCA others(39): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00735.hp2 others(45): Show |
a0001a0002 | a0001c0004a0001c0008a0001c0010others(6): Show | a0001c0004t0004a0001c0004t0012a0001c0008t0004others(8): Show | a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 others(45): Show |
48 | 350 | 0.1371 | -46 | c.70+ others(59): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87975857 | CGTCATGG others(39): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(135): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0006 a0001c0001t0001g0093 a0001c0001t0001g0106 others(130): Show |
138 | 349 | 0.3954 | -46 | c.70+ others(59): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159325041 | TATTATAT others(39): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(44): Show |
a0001a0005a0006others(5): Show | a0001c0001a0005c0005a0006c0016others(5): Show | a0001c0001t0001a0001c0001t0002a0005c0005t0001others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(44): Show |
47 | 168 | 0.2798 | -46 | c.621 others(62): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046530 | ATAAATAT others(39): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02965.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0038 a0001c0001t0002g0049 a0001c0001t0003g0124 others(2): Show |
5 | 246 | 0.0203 | -46 | c.*55 others(57): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4720 | chrX | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32348721 | AAAATATA others(39): Show |
A | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0221 | 1 | 283 | 0.0035 | -46 | c.276 others(65): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51295571 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG03490.hp1 NA18954.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0231 a0001c0001t0003g0345 a0001c0001t0004g0109 |
3 | 398 | 0.0075 | -46 | c.761 others(61): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51295573 | AAAAAATA others(39): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00741.hp1 others(29): Show |
a0001a0010 | a0001c0001a0010c0020 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0021 others(22): Show |
32 | 398 | 0.0804 | -46 | c.761 others(61): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13284188 | ATATATGT others(39): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 279 | 0.0036 | -46 | c.-26 others(65): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57222831 | TCCAGAGG others(39): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp2 HG00741.hp2 others(38): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 others(37): Show |
41 | 270 | 0.1519 | -46 | c.611 others(63): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BNIP5_chr6_36310761_36341888 | 36324575 | TTATATAT others(39): Show |
T | intron_variant | MODIFIER | HG02886.hp2 NA18906.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 a0001c0001t0001g0256 a0001c0001t0001g0257 |
3 | 44 | 0.0682 | -46 | c.116 others(63): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424650 | CTTCTTCT others(39): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG02897.hp2 others(5): Show |
a0001a0003a0012 | a0001c0001a0003c0003a0012c0013 | a0001c0001t0001a0003c0003t0001a0003c0003t0004others(1): Show | a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 others(5): Show |
8 | 418 | 0.0191 | -46 | c.121 others(65): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BSG_chr19_567596_588493 | 580799 | GCTGGGGG others(39): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0080 | 1 | 304 | 0.0033 | -46 | c.792 others(59): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 581008 | CGGACTGG others(39): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02257.hp2 others(11): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0003a0001c0001t0021a0001c0001t0023others(4): Show | a0001c0001t0003g0021 a0001c0001t0003g0051 a0001c0001t0003g0069 others(9): Show |
14 | 301 | 0.0465 | -46 | c.792 others(61): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 581152 | CCAGCCCT others(39): Show |
C | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 304 | 0.0033 | -46 | c.793 others(60): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BUB1B_chr15_40156069_40226123 | 40193008 | GGCTGGCT others(39): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0277 | 1 | 350 | 0.0029 | -46 | c.105 others(65): Show |
BUB1B | ENSG00000156970.13 | transcript | ENST00000287598.11 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
C13orf42_chr13_51077119_51116274 | 51078004 | GTCCGGGA others(39): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 a0001c0001t0003g0177 a0001c0001t0003g0184 others(1): Show |
4 | 446 | 0.0090 | -46 | c.*61 others(57): Show |
C13orf42 | ENSG00000226792.8 | transcript | ENST00000563710.7 | protein_coding | 4114 | chr13 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113954964 | GAGGATCT others(39): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0205 | 1 | 412 | 0.0024 | -46 | c.*17 others(57): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | 1763 | chr13 | TogoVar | ||||||
C19orf12_chr19_29693937_29720261 | 29695946 | AGACACCC others(39): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00639.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0017others(5): Show | a0001c0001t0003g0002 a0001c0001t0003g0047 a0001c0001t0003g0179 others(20): Show |
52 | 416 | 0.1250 | -46 | c.*67 others(57): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 2990 | chr19 | TogoVar | |||||||
C19orf12_chr19_29693937_29720261 | 29719549 | AATATATT others(39): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02027.hp1 NA18946.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0037 | a0001c0002t0005g0025 a0001c0002t0005g0042 a0001c0002t0005g0167 others(3): Show |
8 | 357 | 0.0224 | -46 | c.-44 others(57): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 4289 | chr19 | TogoVar |