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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA31A3_chr9_66981304_66997550 | 66992654 | TGGGAGGG others(58): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01081.hp1 others(39): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0003a0004c0004others(9): Show | a0001c0001t0001a0002c0003t0001a0004c0004t0001others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0065others(24): Show | 42 | 406 | 0.1035 | -65 | c.-19 others(74): Show |
SPATA31A3 | ENSG00000275969.3 | transcript | ENST00000428649.5 | protein_coding | 105 | chr9 | TogoVar | ||||||
SPO11_chr20_57324803_57348993 | 57347113 | ATCTCGCA others(58): Show |
A | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 322 | 0.0031 | -65 | c.*36 others(76): Show |
SPO11 | ENSG00000054796.13 | transcript | ENST00000371263.8 | protein_coding | 3121 | chr20 | TogoVar | ||||||
SPTY2D1_chr11_18601403_18639342 | 18608921 | TGAAGTCA others(58): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0165 | 1 | 444 | 0.0023 | -65 | c.*87 others(74): Show |
SPTY2D1 | ENSG00000179119.15 | transcript | ENST00000336349.6 | protein_coding | 6/6 | 875 | chr11 | TogoVar | |||||
SRBD1_chr2_45383680_45616267 | 45415673 | GGAGGGGA others(58): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 358 | 0.0028 | -65 | c.233 others(84): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | ||||||
SRBD1_chr2_45383680_45616267 | 45415677 | GGGAGGGG others(58): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03453.hp1 |
a0002a0005 | a0002c0004a0005c0007 | a0002c0004t0001a0005c0007t0001 | a0002c0004t0001g0113a0005c0007t0001g0135 | 2 | 358 | 0.0056 | -65 | c.233 others(84): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | ||||||
SRGAP2B_chr1_144882288_145100328 | 144883407 | GGGCAAAA others(58): Show |
G | downstream_gene_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 56 | 0.0179 | -65 | c.*86 others(76): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3880 | chr1 | TogoVar | ||||||
SRRM2_chr16_2747638_2776412 | 2775798 | ATTTGAGG others(58): Show |
A | downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0007 | 1 | 402 | 0.0025 | -65 | c.*49 others(76): Show |
SRRM2 | ENSG00000167978.19 | transcript | ENST00000301740.13 | protein_coding | 4387 | chr16 | TogoVar | ||||||
SSTR5_chr16_1067747_1086454 | 1076124 | CTCTCCTC others(58): Show |
C | intron_variant | MODIFIER | NA19009.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0038 | 1 | 350 | 0.0029 | -65 | c.-27 others(82): Show |
SSTR5 | ENSG00000162009.10 | transcript | ENST00000689027.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186984760 | CTCCCTCC others(58): Show |
C | intron_variant | MODIFIER | HG04199.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0064 | a0001c0001t0006g0080a0001c0001t0064g0254 | 2 | 362 | 0.0055 | -65 | c.-18 others(86): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
STAU2_chr8_73415369_73751840 | 73687303 | TAAATATA others(58): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | 240 | 0.0083 | -65 | c.274 others(82): Show |
STAU2 | ENSG00000040341.18 | transcript | ENST00000524300.6 | protein_coding | 5/14 | chr8 | TogoVar | ||||||
STIM1_chr11_3850664_4098208 | 3895738 | TTCTTTCT others(58): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214a0001c0001t0003g0245 | 2 | 300 | 0.0067 | -65 | c.139 others(84): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5316796 | ATATATTA others(58): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0075 | 1 | 170 | 0.0059 | -65 | c.261 others(84): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
STON1_chr2_48525154_48603513 | 48564487 | TTCTTCTT others(58): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG03831.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0237a0003c0004t0004g0323 | 2 | 376 | 0.0053 | -65 | c.-47 others(84): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STUB1_chr16_675410_687801 | 679924 | GGCTGGGG others(58): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 356 | 0.0056 | -65 | c.-60 others(74): Show |
STUB1 | ENSG00000103266.11 | transcript | ENST00000219548.9 | protein_coding | 485 | chr16 | TogoVar | ||||||
STUB1_chr16_675410_687801 | 679958 | GGCTGGGG others(58): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01433.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004 | 21 | 356 | 0.0590 | -65 | c.-56 others(74): Show |
STUB1 | ENSG00000103266.11 | transcript | ENST00000219548.9 | protein_coding | 451 | chr16 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108806298 | GTGGCTAA others(58): Show |
G | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 334 | 0.0030 | -65 | c.153 others(84): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYCE3_chr22_50546112_50567919 | 50562331 | AGGGGTGA others(58): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 414 | 0.0024 | -65 | c.-1+ others(78): Show |
SYCE3 | ENSG00000217442.4 | transcript | ENST00000406915.4 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63858708 | ATTGCCTC others(58): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0003 | a0003c0015 | a0003c0015t0003 | a0003c0015t0003g0012 | 1 | 150 | 0.0067 | -65 | c.-52 others(82): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 1/115 | chr14 | TogoVar | ||||||
TAB3_chrX_30822442_30894254 | 30868502 | ATATATAT others(58): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02165.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0003g0287a0001c0001t0005g0217a0001c0001t0007g0240others(3): Show | 6 | 302 | 0.0199 | -65 | c.-27 others(83): Show |
TAB3 | ENSG00000157625.16 | transcript | ENST00000288422.4 | protein_coding | 2/10 | chrX | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48583447 | CACACAAA others(58): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0223a0001c0001t0003g0073 | 2 | 258 | 0.0078 | -65 | c.113 others(84): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TET2_chr4_105141876_105284803 | 105203463 | TCTTTGTA others(58): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01192.hp2 others(42): Show |
a0003a0012 | a0003c0004a0003c0008a0003c0011others(4): Show | a0003c0004t0016a0003c0004t0017a0003c0004t0018others(30): Show | a0003c0004t0016g0072a0003c0004t0016g0073a0003c0004t0016g0222others(42): Show | 45 | 348 | 0.1293 | -65 | c.-47 others(84): Show |
TET2 | ENSG00000168769.14 | transcript | ENST00000380013.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TEX11_chrX_70523940_70913711 | 70622961 | TATTTGGT others(58): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 229 | 0.0044 | -65 | c.175 others(82): Show |
TEX11 | ENSG00000120498.14 | transcript | ENST00000374333.7 | protein_coding | 20/29 | chrX | TogoVar | ||||||
TFRC_chr3_196044284_196087090 | 196055720 | ACAGCCTT others(58): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0315 | 1 | 384 | 0.0026 | -65 | c.167 others(82): Show |
TFRC | ENSG00000072274.14 | transcript | ENST00000360110.9 | protein_coding | 16/18 | chr3 | TogoVar | ||||||
TIMM22_chr17_992129_1008671 | 1006907 | GCGCCATG others(58): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(231): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(86): Show | 234 | 439 | 0.5330 | -65 | c.*58 others(76): Show |
TIMM22 | ENSG00000177370.5 | transcript | ENST00000327158.5 | protein_coding | 3237 | chr17 | TogoVar | ||||||
TINAG_chr6_54303441_54395142 | 54310658 | CTTTTTCT others(58): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01358.hp1 others(16): Show |
a0002a0005a0016others(2): Show | a0002c0002a0005c0005a0016c0016others(2): Show | a0002c0002t0001a0005c0005t0001a0016c0016t0001others(2): Show | a0002c0002t0001g0253a0002c0002t0001g0254a0005c0005t0001g0258others(16): Show | 19 | 374 | 0.0508 | -65 | c.355 others(82): Show |
TINAG | ENSG00000137251.16 | transcript | ENST00000259782.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TMC4_chr19_54155108_54178160 | 54175368 | TTGCACCA others(58): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0233 | 1 | 407 | 0.0025 | -65 | c.-23 others(76): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 2209 | chr19 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113506350 | AGTGGCTG others(58): Show |
A | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 368 | 0.0027 | -65 | c.103 others(84): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMCO3_chr13_113486021_113555229 | 113545599 | TAGCTCAG others(58): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0329a0001c0001t0010g0330 | 2 | 368 | 0.0054 | -65 | c.169 others(84): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM106C_chr12_47958596_47973878 | 47971801 | TATAATAA others(58): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG01361.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 4 | 422 | 0.0095 | -65 | c.*35 others(76): Show |
TMEM106C | ENSG00000134291.12 | transcript | ENST00000429772.7 | protein_coding | 2924 | chr12 | TogoVar | ||||||
TMEM132C_chr12_128262170_128712911 | 128585295 | ACCATTCT others(58): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0004 | a0004c0026 | a0004c0026t0002 | a0004c0026t0002g0137 | 1 | 170 | 0.0059 | -65 | c.112 others(86): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM163_chr2_134450759_134724000 | 134607318 | GTGAAAAG others(58): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01978.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0119a0001c0001t0002g0120a0001c0001t0003g0136others(1): Show | 4 | 222 | 0.0180 | -65 | c.323 others(84): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134609027 | AAGGACAG others(58): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0218 | 1 | 222 | 0.0045 | -65 | c.323 others(84): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
TMPRSS4_chr11_118072078_118126890 | 118096902 | AGAAAGAA others(58): Show |
A | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 406 | 0.0025 | -65 | c.43+ others(80): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TNFAIP8L2_chr1_151151649_151164749 | 151164399 | TGAGATGG others(58): Show |
T | downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 348 | 0.0029 | -65 | c.*51 others(76): Show |
TNFAIP8L2 | ENSG00000163154.6 | transcript | ENST00000368910.4 | protein_coding | 4651 | chr1 | TogoVar | ||||||
TNK2_chr3_195858364_195913551 | 195864462 | GAGACAGC others(58): Show |
G | intron_variant | MODIFIER | HG00423.hp1 NA18954.hp2 NA18959.hp2 others(9): Show |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0001a0004c0007t0001 | a0001c0002t0001g0174a0001c0002t0001g0187a0004c0007t0001g0260others(9): Show | 12 | 372 | 0.0323 | -65 | c.316 others(82): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 15/15 | chr3 | TogoVar | ||||||
TNK2_chr3_195858364_195913551 | 195865089 | GTGCAAAT others(58): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 372 | 0.0027 | -65 | c.316 others(82): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 15/15 | chr3 | TogoVar | ||||||
TNK2_chr3_195858364_195913551 | 195865466 | CGAGTGCC others(58): Show |
C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0122 | 1 | 372 | 0.0027 | -65 | c.316 others(84): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 15/15 | chr3 | TogoVar | ||||||
TPD52L1_chr6_125148773_125269407 | 125260917 | GAAAGAAG others(58): Show |
G | intron_variant | MODIFIER | NA18941.hp1 NA18944.hp2 NA18950.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0061others(3): Show | 6 | 320 | 0.0188 | -65 | c.487 others(82): Show |
TPD52L1 | ENSG00000111907.21 | transcript | ENST00000534000.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TPGS1_chr19_502497_524654 | 523473 | AGCAGCAT others(58): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 344 | 0.0029 | -65 | c.*40 others(76): Show |
TPGS1 | ENSG00000141933.9 | transcript | ENST00000359315.6 | protein_coding | 3820 | chr19 | TogoVar | ||||||
TPPP_chr5_654862_698352 | 675138 | GCAGTGTG others(58): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0324 | 1 | 409 | 0.0024 | -65 | c.311 others(82): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
TRDN_chr6_123211339_123641950 | 123266093 | ATATATTA others(58): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG02056.hp1 others(4): Show |
a0008a0016 | a0008c0010a0016c0018 | a0008c0010t0005a0016c0018t0005 | a0008c0010t0005g0037a0008c0010t0005g0079a0008c0010t0005g0084others(4): Show | 7 | 152 | 0.0461 | -65 | c.178 others(82): Show |
TRDN | ENSG00000186439.15 | transcript | ENST00000334268.9 | protein_coding | 32/40 | chr6 | TogoVar | ||||||
TRIM2_chr4_153199443_153344317 | 153221763 | TAAGGAAG others(58): Show |
T | intron_variant | MODIFIER | HG02109.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0267a0001c0002t0002g0268 | 2 | 268 | 0.0075 | -65 | c.30+ others(82): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TRIM46_chr1_155168849_155189970 | 155189082 | GTGTGCTG others(58): Show |
G | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 348 | 0.0029 | -65 | c.*48 others(76): Show |
TRIM46 | ENSG00000163462.19 | transcript | ENST00000334634.9 | protein_coding | 4113 | chr1 | TogoVar | ||||||
TRIP13_chr5_887884_923120 | 898058 | CCCAGGGC others(58): Show |
C | intron_variant | MODIFIER | NA19059.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0182 | 1 | 402 | 0.0025 | -65 | c.388 others(82): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TUBGCP2_chr10_133273635_133313872 | 133291457 | CCGTGTCC others(58): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0066 | 1 | 284 | 0.0035 | -65 | c.121 others(83): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133291645 | CCGTGTCC others(58): Show |
C | intron_variant | MODIFIER | HG03654.hp1 NA19065.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0032a0001c0002t0003g0066 | 2 | 284 | 0.0070 | -65 | c.121 others(82): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133292110 | CCCCATGT others(58): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0067 | 1 | 284 | 0.0035 | -65 | c.121 others(82): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133292203 | CCCCCATG others(58): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0196 | 2 | 284 | 0.0070 | -65 | c.121 others(82): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133292288 | CCCCCATG others(58): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0065 | 1 | 284 | 0.0035 | -65 | c.121 others(82): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238911776 | GCACACAC others(58): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02897.hp1 NA18998.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0175a0001c0001t0001g0183others(1): Show | 4 | 338 | 0.0118 | -65 | c.*19 others(76): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1243 | chr2 | TogoVar |