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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BET1L_chr11_197924_212399 | 207359 | C | CGGCCACA others(14): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0002g0001a0001c0001t0002g0013a0001c0001t0002g0015others(35): Show | 261 | 402 | 0.6493 | 21 | c.-59 others(28): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 1/4 | 39 | chr11 | TogoVar | |||||
BET1L_chr11_197924_212399 | 207359 | C | CGGCCACA others(35): Show |
5_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01255.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0010g0012a0001c0001t0021g0028a0001c0001t0022g0027others(1): Show | 8 | 402 | 0.0199 | 42 | c.-39 others(49): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 1/4 | 39 | chr11 | TogoVar | |||||
BET1L_chr11_197924_212399 | 207359 | C | T | 5_prime_UTR_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0026 | 1 | 402 | 0.0025 | 0 | c.-38 others(3): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 1/4 | 38 | chr11 | TogoVar | |||||
BET1L_chr11_197924_212399 | 207370 | G | GCCTCAGA others(14): Show |
5_prime_UTR_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0060 | 1 | 402 | 0.0025 | 21 | c.-50 others(28): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 1/4 | 50 | chr11 | TogoVar | |||||
BET1_chr7_93988245_94009355 | 94004232 | A | G | 5_prime_UTR_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 404 | 0.0025 | 0 | c.-16 others(3): Show |
BET1 | ENSG00000105829.13 | transcript | ENST00000222547.8 | protein_coding | 1/4 | 16 | chr7 | TogoVar | |||||
BET1_chr7_93988245_94009355 | 94004245 | G | A | 5_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0100 | 1 | 404 | 0.0025 | 0 | c.-29 others(3): Show |
BET1 | ENSG00000105829.13 | transcript | ENST00000222547.8 | protein_coding | 1/4 | 29 | chr7 | TogoVar | |||||
BEX1_chrX_103057651_103069171 | 103063669 | T | A | 5_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017a0001c0001t0003g0025a0001c0001t0003g0036others(1): Show | 8 | 339 | 0.0236 | 0 | c.-33 others(3): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2/3 | 395 | chrX | TogoVar | |||||
BEX1_chrX_103057651_103069171 | 103064107 | T | TC | 5_prime_UTR_variant | MODIFIER | NA19001.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043a0001c0001t0004g0044 | 2 | 339 | 0.0059 | 1 | c.-10 others(5): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1/3 | 834 | chrX | TogoVar | |||||
BEX1_chrX_103057651_103069171 | 103064128 | C | G | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00733.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0007a0001c0001t0002g0019others(1): Show | 50 | 339 | 0.1475 | 0 | c.-12 others(4): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1/3 | 854 | chrX | TogoVar | |||||
BEX2_chrX_103304346_103315990 | 103310417 | C | T | 5_prime_UTR_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 308 | 0.0033 | 0 | c.-65 others(3): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 2/3 | 441 | chrX | TogoVar | |||||
BEX2_chrX_103304346_103315990 | 103310424 | C | T | 5_prime_UTR_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013 | 1 | 308 | 0.0033 | 0 | c.-72 others(3): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 2/3 | 448 | chrX | TogoVar | |||||
BEX2_chrX_103304346_103315990 | 103310427 | C | T | 5_prime_UTR_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0023 | 1 | 308 | 0.0033 | 0 | c.-75 others(3): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 2/3 | 451 | chrX | TogoVar | |||||
BEX2_chrX_103304346_103315990 | 103310864 | T | TC | 5_prime_UTR_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0022 | 1 | 308 | 0.0033 | 1 | c.-87 others(4): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 1/3 | 889 | chrX | TogoVar | |||||
BEX2_chrX_103304346_103315990 | 103310869 | CT | C | 5_prime_UTR_variant | MODIFIER | NA18747.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 2 | 308 | 0.0065 | -1 | c.-92 others(4): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 1/3 | 894 | chrX | TogoVar | |||||
BEX2_chrX_103304346_103315990 | 103310885 | C | CG | 5_prime_UTR_variant | MODIFIER | NA19054.hp1 | a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0010 | 1 | 308 | 0.0033 | 1 | c.-10 others(5): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 1/3 | 910 | chrX | TogoVar | |||||
BEX2_chrX_103304346_103315990 | 103310955 | C | A | 5_prime_UTR_variant | MODIFIER | NA18945.hp1 NA18965.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 4 | 308 | 0.0130 | 0 | c.-17 others(4): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 1/3 | 979 | chrX | TogoVar | |||||
BEX2_chrX_103304346_103315990 | 103310966 | C | A | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00733.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 12 | 308 | 0.0390 | 0 | c.-18 others(4): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 1/3 | 990 | chrX | TogoVar | |||||
BEX2_chrX_103304346_103315990 | 103310978 | C | A | 5_prime_UTR_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01070.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0005a0001c0001t0010g0023 | 9 | 308 | 0.0292 | 0 | c.-20 others(4): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 1/3 | 1002 | chrX | TogoVar | |||||
BEX3_chrX_103371538_103383164 | 103376558 | TC | T | 5_prime_UTR_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0009 | 1 | 298 | 0.0034 | -1 | c.-14 others(5): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 1/3 | 960 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BEX3_chrX_103371538_103383164 | 103376596 | C | CG | 5_prime_UTR_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0009 | 1 | 298 | 0.0034 | 1 | c.-10 others(5): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 1/3 | 921 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BEX3_chrX_103371538_103383164 | 103377039 | TA | T | 5_prime_UTR_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 298 | 0.0034 | -1 | c.-78 others(4): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 2/3 | 481 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BEX3_chrX_103371538_103383164 | 103377057 | A | AC | 5_prime_UTR_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 298 | 0.0034 | 1 | c.-60 others(4): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 2/3 | 462 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BEX3_chrX_103371538_103383164 | 103377077 | AG | A | 5_prime_UTR_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0009 | 1 | 298 | 0.0034 | -1 | c.-40 others(4): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 2/3 | 443 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BEX4_chrX_103210108_103222246 | 103215126 | G | A | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00673.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002a0001c0001t0003g0011 | 23 | 334 | 0.0689 | 0 | c.-20 others(4): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 1/3 | 1028 | chrX | TogoVar | |||||
BEX4_chrX_103210108_103222246 | 103215177 | G | A | 5_prime_UTR_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 334 | 0.0030 | 0 | c.-15 others(4): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 1/3 | 977 | chrX | TogoVar | |||||
BEX4_chrX_103210108_103222246 | 103215708 | G | C | 5_prime_UTR_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 334 | 0.0030 | 0 | c.-62 others(3): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2/3 | 446 | chrX | TogoVar | |||||
BEX4_chrX_103210108_103222246 | 103215721 | T | G | 5_prime_UTR_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005 | 1 | 334 | 0.0030 | 0 | c.-49 others(3): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2/3 | 433 | chrX | TogoVar | |||||
BEX4_chrX_103210108_103222246 | 103215735 | CG | C | 5_prime_UTR_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 334 | 0.0030 | -1 | c.-33 others(4): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2/3 | 417 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BEX5_chrX_102148712_102160977 | 102154282 | G | GT | 5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02148.hp2 HG02559.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0008a0001c0001t0002g0020 | 22 | 324 | 0.0679 | 1 | c.-18 others(4): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 3/3 | 18 | chrX | TogoVar | |||||
BEX5_chrX_102148712_102160977 | 102154282 | G | GTT | 5_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 324 | 0.0031 | 2 | c.-19 others(9): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 3/3 | 18 | chrX | TogoVar | |||||
BEX5_chrX_102148712_102160977 | 102154282 | GT | G | 5_prime_UTR_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02056.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006a0001c0001t0003g0009a0001c0001t0003g0010others(1): Show | 22 | 324 | 0.0679 | -1 | c.-18 others(4): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 3/3 | 18 | chrX | TogoVar | |||||
BGLAP_chr1_156237184_156248317 | 156242214 | C | T | 5_prime_UTR_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 400 | 0.0025 | 0 | c.-18 others(3): Show |
BGLAP | ENSG00000242252.2 | transcript | ENST00000368272.5 | protein_coding | 1/4 | 18 | chr1 | TogoVar | |||||
BGLAP_chr1_156237184_156248317 | 156242223 | C | G | 5_prime_UTR_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 400 | 0.0025 | 0 | c.-9C others(2): Show |
BGLAP | ENSG00000242252.2 | transcript | ENST00000368272.5 | protein_coding | 1/4 | 9 | chr1 | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153495057 | GC | G | 5_prime_UTR_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0047 | 1 | 321 | 0.0031 | -1 | c.-65 others(4): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/8 | 9572 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BGN_chrX_153489980_153514546 | 153495064 | AC | A | 5_prime_UTR_variant | MODIFIER | HG02897.hp2 | a0004 | a0004c0011 | a0004c0011t0039 | a0004c0011t0039g0049 | 1 | 321 | 0.0031 | -1 | c.-57 others(4): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/8 | 9564 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BGN_chrX_153489980_153514546 | 153495067 | C | T | 5_prime_UTR_variant | MODIFIER | HG02922.hp2 HG03453.hp2 NA18906.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0090a0001c0005t0037 | a0001c0003t0090g0073a0001c0005t0037g0024 | 3 | 321 | 0.0094 | 0 | c.-58 others(3): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/8 | 9565 | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153495074 | G | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(62): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0001t0009a0001c0002t0004others(27): Show | a0001c0001t0005g0057a0001c0001t0009g0080a0001c0001t0009g0085others(43): Show | 65 | 321 | 0.2025 | 0 | c.-51 others(3): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/8 | 9558 | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153495102 | TC | T | 5_prime_UTR_variant | MODIFIER | NA18989.hp1 NA19075.hp1 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0034a0007c0008t0034 | a0001c0001t0034g0189a0007c0008t0034g0176 | 2 | 321 | 0.0062 | -1 | c.-19 others(4): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/8 | 9526 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
BHLHA15_chr7_98206439_98220457 | 98212285 | C | G | 5_prime_UTR_variant | MODIFIER | NA18987.hp2 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0001 | 1 | 456 | 0.0022 | 0 | c.-25 others(3): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 2/2 | 25 | chr7 | TogoVar | |||||
BHLHA15_chr7_98206439_98220457 | 98212306 | G | C | 5_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp2 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0017others(3): Show | a0001c0001t0003g0004a0001c0001t0007g0004a0001c0001t0017g0004others(3): Show | 82 | 456 | 0.1798 | 0 | c.-4G others(2): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 2/2 | 4 | chr7 | TogoVar | |||||
BHLHA9_chr17_1265444_1276815 | 1270496 | A | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(148): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0009others(5): Show | a0001c0002t0002g0000a0001c0002t0005g0000a0001c0002t0009g0000others(5): Show | 151 | 442 | 0.3416 | 0 | c.-68 others(3): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 1/1 | 68 | chr17 | TogoVar | |||||
BHLHA9_chr17_1265444_1276815 | 1270502 | T | TGGGCAGA | 5_prime_UTR_variant | MODIFIER | HG01928.hp2 HG02293.hp2 HG02300.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0003 | a0001c0001t0003g0000a0001c0007t0003g0000 | 6 | 442 | 0.0136 | 7 | c.-43 others(14): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 1/1 | 36 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
BHLHA9_chr17_1265444_1276815 | 1270538 | G | A | 5_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0000 | 4 | 442 | 0.0091 | 0 | c.-26 others(3): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 1/1 | 26 | chr17 | TogoVar | |||||
BHLHE22_chr8_64575365_64588627 | 64580641 | G | A | 5_prime_UTR_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0000 | 1 | 432 | 0.0023 | 0 | c.-15 others(4): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 1/1 | 150 | chr8 | TogoVar | |||||
BHLHE22_chr8_64575365_64588627 | 64580769 | G | T | 5_prime_UTR_variant | MODIFIER | NA18966.hp2 NA18969.hp2 NA18971.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 11 | 432 | 0.0255 | 0 | c.-22 others(3): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 1/1 | 22 | chr8 | TogoVar | |||||
BHLHE23_chr20_63000927_63011964 | 63006856 | T | C | 5_prime_UTR_variant | MODIFIER | HG01081.hp2 HG03098.hp2 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0000 | 3 | 446 | 0.0067 | 0 | c.-82 others(3): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 1/1 | 82 | chr20 | TogoVar | |||||
BHLHE23_chr20_63000927_63011964 | 63006932 | C | T | 5_prime_UTR_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 446 | 0.0022 | 0 | c.-15 others(4): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 1/1 | 158 | chr20 | TogoVar | |||||
BHLHE23_chr20_63000927_63011964 | 63006953 | G | T | 5_prime_UTR_variant | MODIFIER | HG01361.hp2 HG03041.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 3 | 446 | 0.0067 | 0 | c.-17 others(4): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 1/1 | 179 | chr20 | TogoVar | |||||
BHLHE40_chr3_4974437_4990323 | 4979560 | T | C | 5_prime_UTR_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0007 | 1 | 436 | 0.0023 | 0 | c.-15 others(4): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 1/5 | 159 | chr3 | TogoVar | |||||
BHLHE40_chr3_4974437_4990323 | 4979603 | C | T | 5_prime_UTR_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0049 | a0001c0003t0049g0036 | 1 | 436 | 0.0023 | 0 | c.-11 others(4): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 1/5 | 116 | chr3 | TogoVar |