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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYT6_chr1_114084292_114158869 | 114149218 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03195.hp1 |
a0001 | a0001c0006a0001c0012 | a0001c0006t0010a0001c0012t0009 | a0001c0006t0010g0037 a0001c0012t0009g0036 |
2 | 423 | 0.0047 | 40 | c.163 others(57): Show |
SYT6 | ENSG00000134207.17 | transcript | ENST00000610222.3 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SYT6_chr1_114084292_114158869 | 114149220 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0237 a0001c0001t0022g0236 |
2 | 324 | 0.0062 | 40 | c.163 others(57): Show |
SYT6 | ENSG00000134207.17 | transcript | ENST00000610222.3 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SYT6_chr1_114084292_114158869 | 114149220 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02572.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0233 a0001c0001t0003g0230 a0001c0001t0004g0232 others(3): Show |
6 | 328 | 0.0183 | 40 | c.163 others(57): Show |
SYT6 | ENSG00000134207.17 | transcript | ENST00000610222.3 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SYTL3_chr6_158645054_158769871 | 158701221 | A | AAGGGCTG others(33): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01243.hp2 HG01934.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0117 others(25): Show |
28 | 246 | 0.1138 | 40 | c.395 others(57): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158701247 | A | AAGGGCTG others(33): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00639.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0001a0001c0013t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0097 a0001c0001t0001g0207 a0001c0001t0001g0210 others(27): Show |
30 | 266 | 0.1128 | 40 | c.395 others(57): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158701273 | A | AAGGGCTG others(33): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 250 | 0.0040 | 40 | c.395 others(57): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158701273 | A | AAGGGCTG others(33): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02132.hp2 HG03486.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 others(14): Show |
17 | 266 | 0.0639 | 40 | c.395 others(57): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TAB3_chrX_30822442_30894254 | 30868316 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 223 | 0.0045 | 40 | c.-27 others(57): Show |
TAB3 | ENSG00000157625.16 | transcript | ENST00000288422.4 | protein_coding | 2/10 | chrX | TogoVar | |||||||
TACC2_chr10_121984163_122259542 | 122132032 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0020 | a0020c0020 | a0020c0020t0003 | a0020c0020t0003g0223 | 1 | 224 | 0.0045 | 40 | c.557 others(57): Show |
TACC2 | ENSG00000138162.19 | transcript | ENST00000369005.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TACC2_chr10_121984163_122259542 | 122132033 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG02965.hp1 |
a0001a0008a0059 | a0001c0001a0008c0009a0059c0049 | a0001c0001t0001a0008c0009t0003a0059c0049t0001 | a0001c0001t0001g0093 a0008c0009t0003g0226 a0059c0049t0001g0106 |
3 | 302 | 0.0099 | 40 | c.557 others(57): Show |
TACC2 | ENSG00000138162.19 | transcript | ENST00000369005.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TACR3_chr4_103581031_103724985 | 103720068 | C | CCCCTTCG others(33): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0005 | a0004c0005t0017 | a0004c0005t0017g0130 | 1 | 278 | 0.0036 | 40 | c.-39 others(49): Show |
TACR3 | ENSG00000169836.5 | transcript | ENST00000304883.3 | protein_coding | 84 | chr4 | TogoVar | |||||||
TADA2A_chr17_37401886_37484725 | 37404000 | T | TAAGGGGG others(33): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 350 | 0.0029 | 40 | c.-30 others(51): Show |
TADA2A | ENSG00000276234.5 | transcript | ENST00000615182.5 | protein_coding | 2885 | chr17 | TogoVar | |||||||
TAF11L2_chr5_17493231_17503827 | 17493385 | C | CATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00642.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 others(3): Show |
20 | 42 | 0.4762 | 40 | c.-48 others(51): Show |
TAF11L2 | ENSG00000284373.1 | transcript | ENST00000639081.1 | protein_coding | 4845 | chr5 | TogoVar | |||||||
TAF11L2_chr5_17493231_17503827 | 17493399 | T | TATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 395 | 0.0025 | 40 | c.-48 others(51): Show |
TAF11L2 | ENSG00000284373.1 | transcript | ENST00000639081.1 | protein_coding | 4831 | chr5 | TogoVar | |||||||
TAF3_chr10_7813505_8021631 | 7863724 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 341 | 0.0029 | 40 | c.409 others(59): Show |
TAF3 | ENSG00000165632.9 | transcript | ENST00000344293.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TAF3_chr10_7813505_8021631 | 7871435 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA19063.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0130 |
2 | 54 | 0.0370 | 40 | c.409 others(59): Show |
TAF3 | ENSG00000165632.9 | transcript | ENST00000344293.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TAF3_chr10_7813505_8021631 | 7901011 | G | GTGAATCT others(33): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 10 | 0.1000 | 40 | c.410 others(59): Show |
TAF3 | ENSG00000165632.9 | transcript | ENST00000344293.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TAF4B_chr18_26221445_26396685 | 26346785 | A | ATGTGTGT others(33): Show |
intron_variant | MODIFIER | NA18977.hp1 NA18991.hp2 |
a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0257 a0001c0005t0006g0258 |
2 | 241 | 0.0083 | 40 | c.231 others(61): Show |
TAF4B | ENSG00000141384.13 | transcript | ENST00000269142.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TAFA1_chr3_67999247_68550621 | 68289476 | G | GTGTTAGT others(33): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01175.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0039 a0001c0001t0003g0100 a0001c0001t0004g0067 others(4): Show |
7 | 156 | 0.0449 | 40 | c.119 others(61): Show |
TAFA1 | ENSG00000183662.12 | transcript | ENST00000478136.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAFA1_chr3_67999247_68550621 | 68370478 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 143 | 0.0070 | 40 | c.119 others(59): Show |
TAFA1 | ENSG00000183662.12 | transcript | ENST00000478136.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAFA1_chr3_67999247_68550621 | 68370480 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 144 | 0.0069 | 40 | c.119 others(59): Show |
TAFA1 | ENSG00000183662.12 | transcript | ENST00000478136.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAFA1_chr3_67999247_68550621 | 68370480 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03834.hp1 NA18968.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0141 a0001c0001t0002g0032 a0001c0001t0003g0089 others(1): Show |
4 | 147 | 0.0272 | 40 | c.119 others(59): Show |
TAFA1 | ENSG00000183662.12 | transcript | ENST00000478136.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48735748 | C | CCAGGAGG others(33): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 252 | 0.0040 | 40 | c.391 others(59): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | chr22 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48735938 | G | GCACTCCT others(33): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0141 | 1 | 250 | 0.0040 | 40 | c.391 others(59): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TANC2_chr17_62961235_63432703 | 63056022 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 | 1 | 260 | 0.0038 | 40 | c.68- others(57): Show |
TANC2 | ENSG00000170921.16 | transcript | ENST00000689528.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TANGO6_chr16_68838531_69090182 | 68980383 | T | TTCTCTCT others(33): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 92 | 0.0109 | 40 | c.284 others(59): Show |
TANGO6 | ENSG00000103047.8 | transcript | ENST00000261778.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TAOK1_chr17_29385363_29556903 | 29468135 | A | ATTTTTTT others(33): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18972.hp1 NA19030.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0014others(2): Show | a0001c0001t0007g0241 a0001c0001t0011g0304 a0001c0001t0014g0297 others(2): Show |
5 | 68 | 0.0735 | 40 | c.204 others(55): Show |
TAOK1 | ENSG00000160551.12 | transcript | ENST00000261716.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TAOK1_chr17_29385363_29556903 | 29533086 | T | TGGCTGCC others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(66): Show |
a0001a0002 | a0001c0003a0001c0007a0001c0009others(1): Show | a0001c0003t0004a0001c0003t0008a0001c0003t0009others(11): Show | a0001c0003t0004g0024 a0001c0003t0004g0032 a0001c0003t0004g0039 others(66): Show |
69 | 324 | 0.2130 | 40 | c.236 others(59): Show |
TAOK1 | ENSG00000160551.12 | transcript | ENST00000261716.8 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TAS1R3_chr1_1326280_1340314 | 1339934 | T | TCCCCCAG others(33): Show |
downstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0030 | a0001c0030t0003 | a0001c0030t0003g0003 | 1 | 384 | 0.0026 | 40 | c.*54 others(51): Show |
TAS1R3 | ENSG00000169962.5 | transcript | ENST00000339381.6 | protein_coding | 4621 | chr1 | TogoVar | |||||||
TAS2R1_chr5_9622347_9635351 | 9633294 | T | TTATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0000 a0001c0001t0005g0000 |
2 | 240 | 0.0083 | 40 | c.-32 others(51): Show |
TAS2R1 | ENSG00000169777.7 | transcript | ENST00000382492.4 | protein_coding | 2944 | chr5 | TogoVar | |||||||
TASL_chrX_30553809_30582766 | 30571256 | G | GAAAGAGA others(33): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG02071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0046 others(3): Show |
6 | 89 | 0.0674 | 40 | c.-2+ others(55): Show |
TASL | ENSG00000120280.6 | transcript | ENST00000378962.4 | protein_coding | 2/2 | chrX | TogoVar | |||||||
TATDN2_chr3_10243459_10286218 | 10257294 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | NA18942.hp1 NA19063.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0079 a0004c0004t0002g0117 |
2 | 272 | 0.0074 | 40 | c.415 others(57): Show |
TATDN2 | ENSG00000157014.11 | transcript | ENST00000448281.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAT_chr16_71560660_71582092 | 71579084 | A | AAAATATA others(33): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 153 | 0.0065 | 40 | c.-20 others(51): Show |
TAT | ENSG00000198650.11 | transcript | ENST00000355962.5 | protein_coding | 1993 | chr16 | TogoVar | |||||||
TBC1D10A_chr22_30286990_30331941 | 30308284 | A | ATGCCTGC others(33): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03239.hp2 HG03486.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0002t0001a0003c0005t0001 | a0001c0001t0002g0248 a0001c0002t0001g0001 a0001c0002t0001g0005 others(8): Show |
14 | 282 | 0.0496 | 40 | c.210 others(57): Show |
TBC1D10A | ENSG00000099992.16 | transcript | ENST00000215790.12 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
TBC1D10A_chr22_30286990_30331941 | 30308324 | A | ATGCCTGC others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG01109.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0118 others(11): Show |
14 | 85 | 0.1647 | 40 | c.210 others(57): Show |
TBC1D10A | ENSG00000099992.16 | transcript | ENST00000215790.12 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
TBC1D12_chr10_94397541_94541332 | 94531862 | A | ATGTTATT others(33): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 a0001c0001t0002g0268 a0001c0001t0002g0279 |
3 | 110 | 0.0273 | 40 | c.225 others(57): Show |
TBC1D12 | ENSG00000108239.9 | transcript | ENST00000225235.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TBC1D12_chr10_94397541_94541332 | 94531862 | A | ATGTTATT others(33): Show |
intron_variant | MODIFIER | HG01928.hp2 NA18973.hp2 NA19005.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0237 a0001c0002t0002g0251 a0001c0002t0002g0255 others(2): Show |
5 | 112 | 0.0446 | 40 | c.225 others(57): Show |
TBC1D12 | ENSG00000108239.9 | transcript | ENST00000225235.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TBC1D13_chr9_128782253_128815430 | 128789812 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0130 | a0001c0001t0130g0256 | 1 | 2 | 0.5000 | 40 | c.98- others(53): Show |
TBC1D13 | ENSG00000107021.16 | transcript | ENST00000372648.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TBC1D16_chr17_79927343_80040872 | 79929984 | C | CTCTCCCC others(33): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00639.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0016a0001c0001t0051others(9): Show | a0001c0001t0004g0009 a0001c0001t0004g0020 a0001c0001t0004g0083 others(18): Show |
21 | 130 | 0.1615 | 40 | c.*10 others(53): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2358 | chr17 | TogoVar | |||||||
TBC1D16_chr17_79927343_80040872 | 79930040 | T | TCTCCCCT others(33): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0016a0001c0001t0051others(12): Show | a0001c0001t0004g0009 a0001c0001t0004g0020 a0001c0001t0004g0083 others(26): Show |
29 | 296 | 0.0980 | 40 | c.*10 others(53): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2302 | chr17 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 77990671 | G | GCGCGCGC others(33): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0225 | 1 | 37 | 0.0270 | 40 | c.*74 others(51): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 4313 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 77992805 | T | TCCCCCCA others(33): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 NA19011.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0213 a0002c0003t0001g0222 |
2 | 182 | 0.0110 | 40 | c.*53 others(51): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2179 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78040855 | G | GAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0151 | 1 | 47 | 0.0213 | 40 | c.683 others(57): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78040855 | G | GAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01123.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0042a0001c0001t0043others(2): Show | a0001c0001t0004g0171 a0001c0001t0042g0112 a0001c0001t0043g0189 others(9): Show |
12 | 58 | 0.2069 | 40 | c.683 others(57): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78040855 | G | GAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0012a0002c0003t0045 | a0001c0001t0012g0181 a0002c0003t0045g0268 |
2 | 48 | 0.0417 | 40 | c.683 others(57): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78040855 | G | GAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0245 | 1 | 47 | 0.0213 | 40 | c.683 others(57): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
TBC1D32_chr6_121074494_121339480 | 121192066 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0015 | a0001c0003t0008g0279 a0001c0003t0015g0215 |
2 | 90 | 0.0222 | 40 | c.257 others(61): Show |
TBC1D32 | ENSG00000146350.14 | transcript | ENST00000398212.7 | protein_coding | 22/31 | chr6 | TogoVar | |||||||
TBC1D7_chr6_13299951_13333537 | 13310637 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 199 | 0.0050 | 40 | c.520 others(57): Show |
TBC1D7 | ENSG00000145979.18 | transcript | ENST00000379300.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
TBC1D8_chr2_101002228_101156382 | 101054672 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0304 | 1 | 209 | 0.0048 | 40 | c.403 others(55): Show |
TBC1D8 | ENSG00000204634.13 | transcript | ENST00000409318.2 | protein_coding | 3/19 | chr2 | TogoVar | |||||||
TBC1D9_chr4_140615782_140761385 | 140712449 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02300.hp2 HG03139.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(4): Show | a0001c0001t0001g0212 a0001c0002t0001g0112 a0001c0002t0001g0211 others(7): Show |
10 | 54 | 0.1852 | 40 | c.131 others(59): Show |
TBC1D9 | ENSG00000109436.8 | transcript | ENST00000442267.3 | protein_coding | 1/20 | chr4 | TogoVar |