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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SORCS3_chr10_104636290_105270242 | 104696355 | T | TACACATA others(179): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 134 | 0.0075 | 186 | c.627 others(205): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(179): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 1 | 418 | 0.0024 | 186 | c.*54 others(197): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | |||||||
SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(179): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 418 | 0.0048 | 186 | c.*54 others(197): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89536255 | C | CCGCTCTG others(179): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(71): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0006a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0043 others(70): Show |
74 | 358 | 0.2067 | 186 | c.132 others(205): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2347260 | C | CTCCACAC others(179): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 |
a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0051 a0002c0005t0003g0162 |
2 | 414 | 0.0048 | 186 | c.135 others(205): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
SPRING1_chr12_116705171_116743069 | 116733346 | T | TTAATTTT others(179): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0029 | 2 | 362 | 0.0055 | 186 | c.111 others(203): Show |
SPRING1 | ENSG00000111412.6 | transcript | ENST00000261318.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63536002 | T | TCCTCACC others(179): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0006 | a0006c0008 | a0006c0008t0009 | a0006c0008t0009g0012 | 1 | 356 | 0.0028 | 186 | c.*48 others(197): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2486 | chr20 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29895718 | A | ATATTTTA others(179): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02135.hp1 HG02723.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0147 others(3): Show |
6 | 232 | 0.0259 | 186 | c.63+ others(203): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29895740 | A | ATATAAAA others(179): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01070.hp1 others(28): Show |
a0001a0002a0016 | a0001c0001a0002c0002a0016c0014 | a0001c0001t0002a0001c0001t0011a0001c0001t0022others(5): Show | a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 others(28): Show |
31 | 232 | 0.1336 | 186 | c.63+ others(203): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
STK32B_chr4_5046480_5505989 | 5064488 | G | GTTATATA others(179): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02486.hp2 NA18988.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0103 a0001c0001t0006g0046 a0002c0002t0001g0125 |
3 | 170 | 0.0177 | 186 | c.52+ others(203): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TAF4_chr20_61969798_62070881 | 61971160 | T | TAGACGTG others(179): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 314 | 0.0032 | 186 | c.*50 others(197): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 3637 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61971169 | A | ATTCAACA others(179): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 314 | 0.0032 | 186 | c.*49 others(197): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 3628 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61971293 | A | ATTCAACA others(179): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0031 | 1 | 314 | 0.0032 | 186 | c.*48 others(197): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 3504 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61971293 | A | ATTCAACA others(179): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(44): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0015others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(12): Show | a0001c0001t0001g0077 a0001c0001t0001g0123 a0001c0001t0001g0140 others(44): Show |
47 | 314 | 0.1497 | 186 | c.*48 others(197): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 3504 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61971293 | A | ATTCAACA others(179): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01258.hp2 others(5): Show |
a0001a0006a0026 | a0001c0001a0006c0013a0026c0038 | a0001c0001t0001a0006c0013t0001a0026c0038t0001 | a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0171 others(5): Show |
8 | 314 | 0.0255 | 186 | c.*48 others(197): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 3504 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61982196 | C | CCCACCAG others(179): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(61): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0016a0001c0017others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0016t0001others(16): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(61): Show |
64 | 314 | 0.2038 | 186 | c.309 others(205): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TARBP1_chr1_234386313_234484179 | 234397808 | A | AGAGGGGG others(179): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19043.hp1 |
a0001a0024 | a0001c0001a0024c0063 | a0001c0001t0001a0024c0063t0001 | a0001c0001t0001g0037 a0024c0063t0001g0110 |
2 | 274 | 0.0073 | 186 | c.424 others(203): Show |
TARBP1 | ENSG00000059588.10 | transcript | ENST00000040877.2 | protein_coding | 26/29 | chr1 | TogoVar | |||||||
TBC1D16_chr17_79927343_80040872 | 79929965 | T | TCCCCTCC others(179): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0202 | 1 | 334 | 0.0030 | 186 | c.*10 others(199): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2377 | chr17 | TogoVar | |||||||
TDRD12_chr19_32714767_32834580 | 32746001 | A | AGAGAGAG others(179): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02258.hp2 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0275 a0002c0003t0001g0276 a0002c0003t0001g0277 others(7): Show |
10 | 380 | 0.0263 | 186 | c.441 others(203): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TEDC1_chr14_105486246_105504248 | 105502168 | G | GATCTTCC others(179): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0040 others(22): Show |
40 | 436 | 0.0917 | 186 | c.*32 others(197): Show |
TEDC1 | ENSG00000185347.19 | transcript | ENST00000392523.9 | protein_coding | 2921 | chr14 | TogoVar | |||||||
TEDC1_chr14_105486246_105504248 | 105502168 | G | GATCTTCC others(179): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG02451.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0002g0168 a0001c0007t0002g0095 others(3): Show |
6 | 436 | 0.0138 | 186 | c.*32 others(197): Show |
TEDC1 | ENSG00000185347.19 | transcript | ENST00000392523.9 | protein_coding | 2921 | chr14 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273296 | C | CCACACAT others(179): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 392 | 0.0026 | 186 | c.228 others(205): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43431844 | T | TTTTTTTT others(179): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0193 | 1 | 206 | 0.0049 | 186 | c.383 others(205): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 26/37 | chr2 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376769 | T | TGTGCCCC others(179): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0018 | a0018c0034 | a0018c0034t0007 | a0018c0034t0007g0311 | 1 | 370 | 0.0027 | 186 | c.-80 others(195): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 744 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376825 | G | GCCCCACC others(179): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0104 | 1 | 370 | 0.0027 | 186 | c.-85 others(195): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 800 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376971 | T | TCCCCCTC others(179): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 a0001c0001t0003g0239 |
2 | 370 | 0.0054 | 186 | c.-10 others(197): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 946 | chr19 | TogoVar | |||||||
TLR3_chr4_186064156_186093073 | 186092460 | A | AGCCCCGT others(179): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0018 a0001c0001t0007g0006 |
2 | 450 | 0.0044 | 186 | c.*75 others(197): Show |
TLR3 | ENSG00000164342.14 | transcript | ENST00000296795.8 | protein_coding | 4388 | chr4 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747633 | G | GCTGGGGT others(179): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0080 | 1 | 314 | 0.0032 | 186 | c.189 others(201): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747733 | G | GCTGGGGT others(179): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0007 | 1 | 314 | 0.0032 | 186 | c.189 others(201): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134607283 | G | GCTGGTGA others(179): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 222 | 0.0045 | 186 | c.323 others(205): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
TMEM163_chr2_134450759_134724000 | 134608900 | G | GACAGACC others(179): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0029 a0001c0001t0003g0130 |
2 | 222 | 0.0090 | 186 | c.323 others(205): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
TMEM207_chr3_190423655_190454901 | 190439021 | C | CAAAAAAT others(179): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0059 | 1 | 466 | 0.0022 | 186 | c.304 others(203): Show |
TMEM207 | ENSG00000198398.3 | transcript | ENST00000354905.3 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
TMPRSS12_chr12_50837926_50892884 | 50872737 | T | TATATAGA others(179): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 390 | 0.0026 | 186 | c.653 others(205): Show |
TMPRSS12 | ENSG00000186452.11 | transcript | ENST00000398458.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMPRSS12_chr12_50837926_50892884 | 50872748 | C | CTATATAT others(179): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 a0001c0001t0001g0361 |
2 | 390 | 0.0051 | 186 | c.653 others(205): Show |
TMPRSS12 | ENSG00000186452.11 | transcript | ENST00000398458.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930786 | C | CAAGGGTC others(179): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 466 | 0.0022 | 186 | c.*48 others(197): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4583 | chr11 | TogoVar | |||||||
TPSD1_chr16_1251069_1264008 | 1258770 | T | TCCTGAGC others(179): Show |
3_prime_UTR_variant | MODIFIER | HG04228.hp1 | a0005 | a0005c0005 | a0005c0005t0071 | a0005c0005t0071g0004 | 1 | 270 | 0.0037 | 186 | c.*45 others(195): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 5/5 | 460 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TRPC4AP_chr20_34997404_35097807 | 35097573 | A | ATATATAC others(179): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 334 | 0.0030 | 186 | c.-47 others(197): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4767 | chr20 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(179): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0147 | 1 | 174 | 0.0058 | 186 | c.41- others(203): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53415694 | T | TTATATAT others(179): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(109): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(76): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0055 others(109): Show |
112 | 174 | 0.6437 | 186 | c.*9- others(203): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142390758 | G | GGGGGACT others(179): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0235 | 1 | 238 | 0.0042 | 186 | c.-40 others(205): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142390922 | T | TATAGCAG others(179): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0230 | 1 | 238 | 0.0042 | 186 | c.-40 others(205): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
TSSK4_chr14_24200696_24213248 | 24209057 | G | GAAAGCTA others(179): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG00735.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
14 | 428 | 0.0327 | 186 | c.*91 others(195): Show |
TSSK4 | ENSG00000139908.15 | transcript | ENST00000339917.10 | protein_coding | 810 | chr14 | TogoVar | |||||||
TTC4_chr1_54710861_54747657 | 54719301 | G | GTACTTTG others(179): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG03195.hp2 others(5): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0003a0001c0003t0005a0001c0003t0008others(1): Show | a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0251 others(5): Show |
8 | 398 | 0.0201 | 186 | c.391 others(203): Show |
TTC4 | ENSG00000243725.7 | transcript | ENST00000371281.4 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTC4_chr1_54710861_54747657 | 54719301 | G | GTACTTTG others(179): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01517.hp2 others(11): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0003 | a0001c0003t0003g0232 a0001c0004t0003g0233 a0001c0004t0003g0234 others(11): Show |
14 | 398 | 0.0352 | 186 | c.391 others(203): Show |
TTC4 | ENSG00000243725.7 | transcript | ENST00000371281.4 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTLL11_chr9_121810674_122098308 | 121942581 | A | AGTCAGAG others(179): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0075 | 1 | 174 | 0.0058 | 186 | c.148 others(207): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TUBGCP3_chr13_112480011_112593153 | 112540093 | C | CCTATGAG others(179): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00621.hp2 others(49): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0011others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0020 others(47): Show |
52 | 312 | 0.1667 | 186 | c.133 others(205): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar | |||||||
TUBGCP3_chr13_112480011_112593153 | 112540342 | C | CCTATGAG others(179): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299 | 1 | 312 | 0.0032 | 186 | c.133 others(205): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar | |||||||
TUBGCP3_chr13_112480011_112593153 | 112540342 | C | CCTATGAG others(179): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(61): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0030 a0001c0001t0002g0001 a0001c0001t0002g0002 others(59): Show |
64 | 312 | 0.2051 | 186 | c.133 others(205): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar | |||||||
TUBGCP3_chr13_112480011_112593153 | 112540467 | C | CCTATGAG others(179): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0252 others(1): Show |
4 | 312 | 0.0128 | 186 | c.133 others(205): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar | |||||||
TUBGCP3_chr13_112480011_112593153 | 112540517 | A | ATCAATGT others(179): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(61): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 others(59): Show |
64 | 312 | 0.2051 | 186 | c.133 others(205): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar |