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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLX9_chr21_44935029_44981973 | 44973319 | TGCCCACC others(36): Show |
T | intron_variant | MODIFIER | NA18940.hp2 NA18945.hp1 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0096 |
5 | 331 | 0.0151 | -43 | c.569 others(57): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44973530 | ACCCCGCC others(36): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02647.hp1 HG02897.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 others(1): Show |
4 | 332 | 0.0120 | -43 | c.569 others(58): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44973552 | GTTCAGCT others(36): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02145.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0132 others(16): Show |
21 | 331 | 0.0634 | -43 | c.569 others(58): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44973573 | GCCCCGCC others(36): Show |
G | intron_variant | MODIFIER | HG02602.hp1 HG03017.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 |
3 | 284 | 0.0106 | -43 | c.569 others(58): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47850548 | AATATATA others(36): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0184 | a0001c0001t0184g0096 | 1 | 206 | 0.0049 | -43 | c.784 others(58): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMARCAL1_chr2_216407484_216488053 | 216485785 | TTTCTGGG others(36): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0005 | 1 | 406 | 0.0025 | -43 | c.*28 others(54): Show |
SMARCAL1 | ENSG00000138375.14 | transcript | ENST00000357276.9 | protein_coding | 2733 | chr2 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168200 | CGAAAGAA others(36): Show |
C | upstream_gene_variant | MODIFIER | HG02074.hp1 HG02109.hp2 HG02148.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0000 a0001c0001t0029g0000 |
7 | 374 | 0.0187 | -43 | c.-31 others(54): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2993 | chr12 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168636866 | CTCCCTCC others(36): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0114 a0001c0002t0002g0034 a0001c0002t0002g0037 |
3 | 178 | 0.0169 | -43 | c.908 others(62): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMUG1_chr12_54175366_54193985 | 54188267 | AAATAATA others(36): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 188 | 0.0053 | -43 | c.-10 others(60): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64573176 | GGGGGAGG others(36): Show |
G | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 172 | 0.0058 | -43 | c.858 others(60): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88065214 | TCCCCTCC others(36): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0306 | 1 | 333 | 0.0030 | -43 | c.-26 others(54): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2610 | chr2 | TogoVar | |||||||
SND1_chr7_127647194_128097593 | 128028356 | TTGTTGTT others(36): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 260 | 0.0038 | -43 | c.177 others(64): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 16/23 | chr7 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1176399 | TAACACAA others(36): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(56): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(14): Show | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(56): Show |
59 | 188 | 0.3138 | -43 | c.591 others(60): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX4_chr3_125441650_125525202 | 125475139 | AGTCATAT others(36): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 358 | 0.0028 | -43 | c.788 others(60): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 8/13 | chr3 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827471 | AGTTTATA others(36): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0263 | 1 | 300 | 0.0033 | -43 | c.12+ others(58): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7449196 | TCCCTCCC others(36): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0048 | a0001c0048t0001 | a0001c0048t0001g0146 | 1 | 168 | 0.0060 | -43 | c.548 others(62): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7706404 | TGCCTGGA others(36): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0012 | a0003c0012t0046 | a0003c0012t0046g0033 | 1 | 168 | 0.0060 | -43 | c.186 others(62): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SOX18_chr20_64042582_64054639 | 64042874 | CGGGGGTC others(36): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 327 | 0.0031 | -43 | c.*52 others(54): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4707 | chr20 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132302 | GGAAGGAA others(36): Show |
G | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 213 | 0.0047 | -43 | c.778 others(62): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132306 | GGAAGGAA others(36): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 213 | 0.0047 | -43 | c.778 others(62): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50158144 | GGGTGAGG others(36): Show |
G | intron_variant | MODIFIER | HG01257.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0291 | 1 | 326 | 0.0031 | -43 | c.119 others(60): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48382600 | ACCTCCCT others(36): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(52): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0001a0002c0002t0005a0005c0006t0001 | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005 others(52): Show |
55 | 320 | 0.1719 | -43 | c.909 others(60): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPDYA_chr2_28805834_28855610 | 28819830 | AAAAAAAA others(36): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 336 | 0.0030 | -43 | c.294 others(58): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47679544 | CCCATCCC others(36): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 214 | 0.0047 | -43 | c.168 others(62): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2348567 | CTCTCTCC others(36): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01978.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0002a0001c0003t0001a0003c0006t0001 | a0001c0001t0002g0053 a0001c0003t0001g0189 a0003c0006t0001g0103 |
4 | 412 | 0.0097 | -43 | c.135 others(62): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76227020 | ACAGCCAA others(36): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(141): Show |
a0001a0002a0011 | a0001c0001a0001c0011a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0072 others(141): Show |
144 | 289 | 0.4983 | -43 | c.-39 others(60): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SSR2_chr1_156004048_156025951 | 156016768 | GGGGCAGA others(36): Show |
G | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 354 | 0.0028 | -43 | c.254 others(60): Show |
SSR2 | ENSG00000163479.14 | transcript | ENST00000295702.9 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
STAMBP_chr2_73823961_73872168 | 73834225 | AAAAAAAA others(36): Show |
A | intron_variant | MODIFIER | HG03453.hp2 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 a0001c0002t0005g0072 |
2 | 361 | 0.0055 | -43 | c.203 others(60): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STAMBP_chr2_73823961_73872168 | 73834227 | AAAAAAAA others(36): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 a0001c0002t0005g0071 a0001c0002t0005g0074 others(1): Show |
6 | 366 | 0.0164 | -43 | c.203 others(60): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STARD8_chrX_68642666_68730836 | 68643169 | GTATATAT others(36): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0164 a0004c0011t0001g0165 |
2 | 158 | 0.0127 | -43 | c.-47 others(54): Show |
STARD8 | ENSG00000130052.14 | transcript | ENST00000374599.8 | protein_coding | 4496 | chrX | TogoVar | |||||||
STARD9_chr15_42570606_42725998 | 42601491 | GCTGCCCC others(36): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03486.hp2 |
a0002a0010 | a0002c0055a0010c0014 | a0002c0055t0017a0010c0014t0008 | a0002c0055t0017g0020 a0010c0014t0008g0021 a0010c0014t0008g0022 |
3 | 208 | 0.0144 | -43 | c.234 others(62): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 3/32 | chr15 | TogoVar | |||||||
STIL_chr1_47245139_47319147 | 47245158 | TCCTGCTT others(36): Show |
T | downstream_gene_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0241 | 1 | 390 | 0.0026 | -43 | c.*59 others(54): Show |
STIL | ENSG00000123473.17 | transcript | ENST00000371877.8 | protein_coding | 4980 | chr1 | TogoVar | |||||||
STIL_chr1_47245139_47319147 | 47292571 | GAGGTAAT others(36): Show |
G | intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0256 | 1 | 390 | 0.0026 | -43 | c.872 others(58): Show |
STIL | ENSG00000123473.17 | transcript | ENST00000371877.8 | protein_coding | 8/16 | chr1 | TogoVar | |||||||
STIM1_chr11_3850664_4098208 | 3895639 | TTTCTTTC others(36): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0005 | a0003c0005t0009 | a0003c0005t0009g0004 | 1 | 291 | 0.0034 | -43 | c.139 others(62): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
STK32A_chr5_147230026_147392855 | 147260544 | GCCTGTCC others(36): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0011g0075 a0001c0001t0011g0076 a0001c0002t0001g0175 others(6): Show |
9 | 314 | 0.0287 | -43 | c.53- others(60): Show |
STK32A | ENSG00000169302.16 | transcript | ENST00000397936.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
STK32C_chr10_132202492_132312950 | 132203674 | TGCTCAGC others(36): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00621.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0005t0002others(3): Show | a0001c0001t0002g0033 a0001c0001t0002g0121 a0001c0001t0002g0123 others(41): Show |
44 | 366 | 0.1202 | -43 | c.*42 others(54): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 3817 | chr10 | TogoVar | |||||||
STON1_chr2_48525154_48603513 | 48564437 | CTTCTTCT others(36): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0271 | 1 | 374 | 0.0027 | -43 | c.-47 others(62): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STOX2_chr4_183900307_184028526 | 183932335 | CAGTATAT others(36): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG00741.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0031others(7): Show | a0001c0001t0001g0047 a0001c0001t0001g0135 a0001c0001t0001g0150 others(15): Show |
18 | 186 | 0.0968 | -43 | c.166 others(62): Show |
STOX2 | ENSG00000173320.12 | transcript | ENST00000308497.9 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
SYT1_chr12_78859774_79457008 | 78931200 | AAAGAAAG others(36): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0015 | 1 | 55 | 0.0182 | -43 | c.-21 others(64): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYT3_chr19_50616977_50644881 | 50619906 | ATTATTAT others(36): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00741.hp1 others(57): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(42): Show |
60 | 386 | 0.1554 | -43 | c.*25 others(54): Show |
SYT3 | ENSG00000213023.11 | transcript | ENST00000600079.6 | protein_coding | 2070 | chr19 | TogoVar | |||||||
SYT9_chr11_7246904_7474043 | 7432563 | AAAAAAAA others(36): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0009 | a0001c0001t0004g0129 a0001c0002t0009g0060 |
2 | 269 | 0.0074 | -43 | c.146 others(64): Show |
SYT9 | ENSG00000170743.17 | transcript | ENST00000318881.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158763443 | ACTGTCTG others(36): Show |
A | frameshift_variant | HIGH | HG04184.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0130 | 1 | 290 | 0.0034 | -43 | c.165 others(52): Show |
p.Thr others(5): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 17/18 | 2409/2851 | 1658/1833 | 553/610 | chr6 | TogoVar | |||
TACR2_chr10_69398903_69421918 | 69409839 | ACGTATAC others(36): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0046 | 1 | 380 | 0.0026 | -43 | c.588 others(58): Show |
TACR2 | ENSG00000075073.16 | transcript | ENST00000373306.5 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48742157 | CCCCCTCA others(36): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0032 | a0001c0001t0002g0096 a0001c0001t0012g0192 a0001c0001t0032g0033 |
3 | 256 | 0.0117 | -43 | c.391 others(60): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 38143829 | TAACTTAG others(36): Show |
T | downstream_gene_variant | MODIFIER | NA19004.hp1 | a0003 | a0003c0006 | a0003c0006t0013 | a0003c0006t0013g0274 | 1 | 308 | 0.0032 | -43 | c.*64 others(54): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 4657 | chr4 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47021231 | TACCTGTA others(36): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00558.hp1 others(22): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0046 others(22): Show |
25 | 99 | 0.2525 | -43 | c.120 others(64): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D28_chr17_18629247_18649391 | 18634824 | CCCTCAGC others(36): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0072 | 1 | 463 | 0.0022 | -43 | c.*15 others(54): Show |
TBC1D28 | ENSG00000189375.12 | transcript | ENST00000405044.7 | protein_coding | 10/10 | 1595 | chr17 | TogoVar | ||||||
TBC1D9B_chr5_179857071_179912897 | 179889396 | GGGGAGAG others(36): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG03041.hp2 others(7): Show |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0001a0001c0005t0006a0002c0003t0006 | a0001c0005t0001g0036 a0001c0005t0006g0305 a0002c0003t0006g0030 others(6): Show |
10 | 360 | 0.0278 | -43 | c.104 others(62): Show |
TBC1D9B | ENSG00000197226.13 | transcript | ENST00000355235.8 | protein_coding | 6/20 | chr5 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82801625 | AGAGTCAG others(36): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
a0001a0002a0006others(7): Show | a0001c0001a0001c0002a0001c0014others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 others(120): Show |
123 | 316 | 0.3892 | -43 | c.950 others(58): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 9/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TCEA1_chr8_53961556_54027448 | 53996745 | ATAAATTA others(36): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 others(51): Show |
66 | 312 | 0.2115 | -43 | c.233 others(60): Show |
TCEA1 | ENSG00000187735.16 | transcript | ENST00000521604.7 | protein_coding | 3/9 | chr8 | TogoVar |