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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNMT_chr6_42955754_42968880 | 42964997 | CTCATCCT others(26): Show |
C | downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 388 | 0.0026 | -33 | c.*12 others(44): Show |
GNMT | ENSG00000124713.6 | transcript | ENST00000372808.4 | protein_coding | 1118 | chr6 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817257 | ACCTCCAC others(26): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02027.hp2 HG03942.hp1 others(4): Show |
a0002a0003a0004 | a0002c0002a0003c0004a0003c0008others(1): Show | a0002c0002t0002a0003c0004t0001a0003c0004t0013others(2): Show | a0002c0002t0002g0205a0003c0004t0001g0270a0003c0004t0001g0282others(4): Show | 7 | 308 | 0.0227 | -33 | c.134 others(48): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817536 | GGTGAACC others(26): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0021 | a0021c0031 | a0021c0031t0006 | a0021c0031t0006g0169 | 1 | 308 | 0.0033 | -33 | c.134 others(48): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817554 | ACCTCCAC others(26): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0003 | a0001c0003t0041 | a0001c0003t0041g0165 | 1 | 308 | 0.0033 | -33 | c.134 others(48): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817642 | CCCCCCCC others(26): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA19087.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0002c0002t0002 | a0001c0003t0004g0144a0002c0002t0002g0205 | 2 | 308 | 0.0065 | -33 | c.134 others(48): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817778 | CCTCCACT others(26): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(51): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0024a0001c0026others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(22): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(51): Show | 54 | 308 | 0.1753 | -33 | c.134 others(48): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817800 | GGTGAACC others(26): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0009 | a0009c0015 | a0009c0015t0078 | a0009c0015t0078g0066 | 1 | 308 | 0.0033 | -33 | c.134 others(49): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817990 | ACTCTAAG others(26): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0297 | 1 | 308 | 0.0033 | -33 | c.134 others(50): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132818088 | CGCTCTAA others(26): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02896.hp1 |
a0009 | a0009c0015 | a0009c0015t0078a0009c0015t0080 | a0009c0015t0078g0066a0009c0015t0080g0065 | 2 | 308 | 0.0065 | -33 | c.134 others(50): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132818171 | GCCCTCCA others(26): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0008 | a0008c0014 | a0008c0014t0021 | a0008c0014t0021g0172 | 1 | 308 | 0.0033 | -33 | c.134 others(50): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA4_chr3_37238271_37371879 | 37266192 | AGTCTCAC others(26): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG03490.hp2 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0083a0004c0007t0001g0084 | 2 | 272 | 0.0074 | -33 | c.162 others(52): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GOLGA6L2_chr15_23434038_23452243 | 23440163 | GCTCCTGC others(26): Show |
G | disruptive_inframe_deletion | MODERATE | HG03579.hp1 | a0000 | a0000c0038 | a0000c0038t0002 | a0000c0038t0002g0122 | 1 | 396 | 0.0025 | -33 | c.227 others(42): Show |
p.Glu others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2373/3499 | 2279/2730 | 760/909 | chr15 | TogoVar | ||
GOLPH3_chr5_32119716_32179319 | 32173412 | CAAAGAGT others(26): Show |
C | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0350 | 1 | 380 | 0.0026 | -33 | c.225 others(48): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
GORAB_chr1_170527166_170558834 | 170553416 | GTGTAAAT others(26): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0030 | 1 | 356 | 0.0028 | -33 | c.*95 others(42): Show |
GORAB | ENSG00000120370.14 | transcript | ENST00000367763.8 | protein_coding | 5/5 | 958 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
GORASP2_chr2_170924253_170972130 | 170965082 | TGTACTTT others(26): Show |
T | intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 382 | 0.0026 | -33 | c.101 others(50): Show |
GORASP2 | ENSG00000115806.13 | transcript | ENST00000234160.5 | protein_coding | 9/9 | chr2 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55029342 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0061 | 1 | 441 | 0.0023 | -33 | c.326 others(50): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55029344 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA19056.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0024a0003c0003t0003g0036 | 2 | 441 | 0.0045 | -33 | c.326 others(50): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55029346 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0249 | 1 | 441 | 0.0023 | -33 | c.326 others(50): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83562192 | TATATATA others(26): Show |
T | intron_variant | MODIFIER | HG03041.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0179a0001c0001t0012g0245 | 2 | 334 | 0.0060 | -33 | c.208 others(52): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83574624 | ATTTTTTT others(26): Show |
A | intron_variant | MODIFIER | NA18956.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0326a0001c0001t0008g0173 | 2 | 334 | 0.0060 | -33 | c.209 others(50): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPC1_chr2_240430663_240473076 | 240453321 | GCCCCGCT others(26): Show |
G | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0006 | a0001c0006t0034 | a0001c0006t0034g0187 | 1 | 398 | 0.0025 | -33 | c.167 others(50): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92663833 | CTATATAT others(26): Show |
C | intron_variant | MODIFIER | HG03041.hp1 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0021a0003c0003t0001g0001 | 2 | 42 | 0.0476 | -33 | c.156 others(56): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPR146_chr7_1039546_1064261 | 1059818 | TGTAGTGG others(26): Show |
T | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0027a0001c0001t0008g0064 | 3 | 434 | 0.0069 | -33 | c.*13 others(44): Show |
GPR146 | ENSG00000164849.10 | transcript | ENST00000444847.2 | protein_coding | 558 | chr7 | TogoVar | ||||||
GPR146_chr7_1039546_1064261 | 1061826 | GGCAGCCA others(26): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0018 | a0001c0002t0005g0011a0001c0002t0005g0042a0001c0002t0005g0047others(12): Show | 22 | 434 | 0.0507 | -33 | c.*33 others(44): Show |
GPR146 | ENSG00000164849.10 | transcript | ENST00000444847.2 | protein_coding | 2566 | chr7 | TogoVar | ||||||
GPT_chr8_144499140_144512172 | 144509832 | TTTCTGCT others(26): Show |
T | downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | -33 | c.*28 others(44): Show |
GPT | ENSG00000167701.14 | transcript | ENST00000394955.3 | protein_coding | 2661 | chr8 | TogoVar | ||||||
GRAMD2B_chr5_126418409_126499364 | 126423478 | TGGGCGGA others(26): Show |
T | 5_prime_UTR_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0199 | 1 | 334 | 0.0030 | -33 | c.-12 others(41): Show |
GRAMD2B | ENSG00000155324.10 | transcript | ENST00000285689.8 | protein_coding | 1/14 | 96 | chr5 | TogoVar | |||||
GRIN1_chr9_137134154_137173756 | 137150949 | AAAAAGAC others(26): Show |
A | intron_variant | MODIFIER | NA18985.hp2 NA19058.hp2 NA19087.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001a0001c0003t0001g0032 | 3 | 298 | 0.0101 | -33 | c.671 others(50): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GRK5_chr10_119202571_119464745 | 119292131 | TTCCTCCT others(26): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG01516.hp2 HG02300.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0084others(3): Show | a0001c0001t0001g0123a0001c0001t0010g0126a0001c0001t0084g0192others(3): Show | 6 | 202 | 0.0297 | -33 | c.53- others(50): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GRK5_chr10_119202571_119464745 | 119438563 | CAAAGAAT others(26): Show |
C | intron_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0002 | a0003c0002t0061 | a0003c0002t0061g0197 | 1 | 202 | 0.0050 | -33 | c.930 others(50): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GRM4_chr6_34013643_34151087 | 34072624 | GCATAGAT others(26): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0122 | 1 | 282 | 0.0036 | -33 | c.737 others(52): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88941511 | GGAGAGGA others(26): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00735.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0038a0001c0001t0001g0052a0001c0001t0001g0055others(28): Show | 31 | 184 | 0.1685 | -33 | c.662 others(52): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
GRM8_chr7_126433598_127257941 | 126643302 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02647.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0074a0001c0001t0002g0089 | 3 | 108 | 0.0278 | -33 | c.135 others(54): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 7/10 | chr7 | TogoVar | ||||||
GRM8_chr7_126433598_127257941 | 127015176 | GAGAAGAA others(26): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02559.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0033a0003c0003t0001g0100 | 2 | 108 | 0.0185 | -33 | c.727 others(52): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 3/10 | chr7 | TogoVar | ||||||
GRP_chr18_59215158_59235771 | 59227033 | CTTTCTTT others(26): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0034 | 2 | 408 | 0.0049 | -33 | c.382 others(50): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GRP_chr18_59215158_59235771 | 59234136 | TATACCAT others(26): Show |
T | downstream_gene_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 408 | 0.0025 | -33 | c.*36 others(44): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3366 | chr18 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27805149 | AGGCTGTG others(26): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 240 | 0.0042 | -33 | c.898 others(50): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27805395 | TGGGGTGG others(26): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01496.hp1 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0042 | a0001c0001t0003g0112a0001c0001t0003g0205a0001c0001t0042g0111 | 3 | 240 | 0.0125 | -33 | c.898 others(50): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27805654 | TGGGGTGG others(26): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01361.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0033a0001c0002t0004others(1): Show | a0001c0001t0004g0043a0001c0001t0004g0101a0001c0001t0004g0138others(8): Show | 11 | 240 | 0.0458 | -33 | c.898 others(50): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
GSG1_chr12_13078532_13108667 | 13107427 | GGGCGTGG others(26): Show |
G | upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 448 | 0.0022 | -33 | c.-39 others(44): Show |
GSG1 | ENSG00000111305.19 | transcript | ENST00000651961.1 | protein_coding | 3761 | chr12 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654195 | GAAAGAAA others(26): Show |
G | upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0013 | 1 | 364 | 0.0028 | -33 | c.-21 others(44): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1903 | chr1 | TogoVar | ||||||
GTF2IRD2B_chr7_75087590_75154817 | 75093095 | CGCTGCGT others(26): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01934.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(2): Show | 5 | 170 | 0.0294 | -33 | c.-6+ others(46): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2IRD2_chr7_74791151_74856605 | 74851011 | CCTTATCT others(26): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 8 | 0.1250 | -33 | c.-6+ others(46): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 322932 | TGAGCTGA others(26): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(116): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0003a0002c0002others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(37): Show | a0001c0001t0001g0002a0001c0001t0001g0036a0001c0001t0001g0039others(109): Show | 119 | 155 | 0.7677 | -33 | c.-41 others(44): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4137 | chrX | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14696937 | GTATATAT others(26): Show |
G | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02083.hp1 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0049a0001c0001t0001g0073others(2): Show | 5 | 236 | 0.0212 | -33 | c.-52 others(42): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 339 | chr12 | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14696997 | ATATATAT others(26): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp1 NA18993.hp1 NA18997.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0001 | a0001c0001t0001g0036a0001c0001t0001g0065a0001c0001t0001g0072others(2): Show | 5 | 236 | 0.0212 | -33 | c.-58 others(42): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 399 | chr12 | TogoVar | ||||||
GXYLT2_chr3_72883046_72981915 | 72902715 | GGTGGCTC others(26): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0018others(48): Show | 51 | 296 | 0.1723 | -33 | c.276 others(50): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
H4C15_chr1_149855764_149866159 | 149865941 | AAAAAAAA others(26): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 206 | 0.0049 | -33 | c.-48 others(44): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4783 | chr1 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171974192 | AGAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 326 | 0.0031 | -33 | c.824 others(50): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | chr2 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45375097 | AATATTTT others(26): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0003 | a0003c0003t0035 | a0003c0003t0035g0220 | 1 | 226 | 0.0044 | -33 | c.123 others(54): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45375117 | ATATTATA others(26): Show |
A | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 226 | 0.0044 | -33 | c.123 others(54): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar |