regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(978): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 244 | 0.0041 | 985 | c.*23 others(996): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(978): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133 | 1 | 244 | 0.0041 | 985 | c.*23 others(996): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(978): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(85): Show |
a0001a0004a0007 | a0001c0001a0001c0010a0004c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0017others(84): Show | 88 | 244 | 0.3607 | 985 | c.*23 others(996): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(978): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 244 | 0.0041 | 985 | c.*23 others(996): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113824256 | C | CCGCGGTC others(978): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 143 | 0.0070 | 985 | c.147 others(1002): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113841676 | T | TTCCATAC others(978): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 143 | 0.0070 | 985 | c.344 others(1002): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(978): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0183 | 2 | 350 | 0.0057 | 985 | c.94- others(998): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(978): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 350 | 0.0057 | 985 | c.94- others(998): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(978): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 350 | 0.0029 | 985 | c.94- others(998): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(978): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0022 | 1 | 376 | 0.0027 | 985 | c.-79 others(994): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(978): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 308 | 0.0033 | 985 | c.-43 others(996): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(978): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(125): Show |
a0001a0003a0004 | a0001c0001a0001c0008a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0026a0001c0001t0002g0001a0001c0001t0002g0004others(9): Show | 128 | 308 | 0.4156 | 985 | c.-43 others(996): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(978): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 308 | 0.0033 | 985 | c.-43 others(996): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(978): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0215 | 1 | 276 | 0.0036 | 985 | c.*65 others(996): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(978): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228a0001c0001t0001g0233 | 2 | 312 | 0.0064 | 985 | c.-41 others(1000): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(978): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 312 | 0.0032 | 985 | c.-41 others(1000): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189475 | A | ATATAAAA others(978): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0044 | 1 | 330 | 0.0030 | 985 | c.-5+ others(1000): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(978): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092 | 1 | 308 | 0.0033 | 985 | c.371 others(1002): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(978): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 308 | 0.0033 | 985 | c.371 others(1002): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(978): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 67 | 0.0149 | 985 | c.159 others(1002): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(978): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0001 | a0003c0001t0085 | a0003c0001t0085g0267 | 1 | 280 | 0.0036 | 985 | c.89- others(998): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(978): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031 | 1 | 222 | 0.0045 | 985 | c.914 others(1004): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(978): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0048 | 2 | 186 | 0.0108 | 985 | c.-50 others(996): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(978): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 186 | 0.0054 | 985 | c.-50 others(996): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005529 | C | CCACCATC others(978): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0003 | a0003c0003t0016 | a0003c0003t0016g0161 | 1 | 436 | 0.0023 | 985 | c.*11 others(1004): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TCF3_chr19_1604292_1657615 | 1629005 | C | CAGGGGGT others(978): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0001 | a0002c0001t0053 | a0002c0001t0053g0057 | 1 | 352 | 0.0028 | 985 | c.299 others(1002): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(978): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 388 | 0.0026 | 985 | c.*22 others(996): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311648 | C | CCCACTGT others(978): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18966.hp2 NA18975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0022 | a0001c0001t0001g0137a0001c0001t0001g0143a0001c0001t0001g0147others(2): Show | 5 | 344 | 0.0145 | 985 | c.327 others(1002): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(978): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0103 | 1 | 260 | 0.0039 | 985 | c.*54 others(996): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | ||||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(978): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0202 | 1 | 402 | 0.0025 | 985 | c.783 others(1000): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870692 | C | CCCCACAC others(978): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 338 | 0.0030 | 985 | c.*35 others(1004): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(978): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 228 | 0.0044 | 985 | c.127 others(1002): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(979): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 306 | 0.0033 | 986 | c.130 others(1005): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(979): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0152a0001c0002t0003g0211 | 2 | 306 | 0.0065 | 986 | c.130 others(1005): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(979): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01081.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0181a0001c0006t0001g0193 | 2 | 246 | 0.0081 | 986 | c.-18 others(997): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140243 | G | GGGGTGTC others(979): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0152 | 1 | 226 | 0.0044 | 986 | c.217 others(1005): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(979): Show |
intron_variant | MODIFIER | HG02723.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272a0001c0001t0001g0310 | 2 | 326 | 0.0061 | 986 | c.327 others(1003): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 410874 | A | ATCCTGGG others(979): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0062 | 1 | 322 | 0.0031 | 986 | c.-19 others(997): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1728 | chr19 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(979): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0186 | 1 | 354 | 0.0028 | 986 | c.-22 others(1003): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(979): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0016a0002c0002t0004g0017 | 2 | 354 | 0.0057 | 986 | c.-22 others(1003): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585521 | A | ATGTTGAG others(979): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0023 | 1 | 354 | 0.0028 | 986 | c.-22 others(1003): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(979): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 354 | 0.0028 | 986 | c.-22 others(1003): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585554 | T | TGAGGGAG others(979): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0144 | 1 | 354 | 0.0028 | 986 | c.-22 others(1003): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(979): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 236 | 0.0042 | 986 | c.342 others(1007): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(979): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0012 | a0012c0019 | a0012c0019t0003 | a0012c0019t0003g0120 | 1 | 236 | 0.0042 | 986 | c.342 others(1007): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(979): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0292 | 1 | 320 | 0.0031 | 986 | c.380 others(1003): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(979): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 320 | 0.0031 | 986 | c.937 others(1001): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(979): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 396 | 0.0025 | 986 | c.513 others(1003): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 902041 | C | CTGGGATT others(979): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 306 | 0.0033 | 986 | c.822 others(1003): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(979): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 290 | 0.0035 | 986 | c.162 others(1005): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar |