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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(873): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0011 | 1 | 323 | 0.0031 | 880 | c.-21 others(891): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(873): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 323 | 0.0031 | 880 | c.-21 others(891): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161961 | A | ACACCCCT others(873): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 376 | 0.0027 | 880 | c.-81 others(889): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 753 | chr11 | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121786166 | G | GAAAGAAA others(873): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0166 | 1 | 308 | 0.0033 | 880 | c.127 others(899): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406007 | C | CAGTCTTC others(873): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0187 | a0001c0001t0187g0198 | 1 | 276 | 0.0036 | 880 | c.*82 others(889): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 826 | chr2 | TogoVar | |||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(873): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0223 | 1 | 284 | 0.0035 | 880 | c.126 others(897): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189701 | G | GAAGAAGG others(873): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0020 | 1 | 62 | 0.0161 | 880 | c.-36 others(901): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(873): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 422 | 0.0024 | 880 | c.-29 others(891): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(873): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01934.hp2 HG02735.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001a0003c0003t0001g0007 | 3 | 422 | 0.0071 | 880 | c.-29 others(891): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(873): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG02738.hp1 HG03834.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 3 | 422 | 0.0071 | 880 | c.-29 others(891): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | ||||||
LRP6_chr12_12111025_12272044 | 12253080 | A | ATGGCGAA others(873): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18944.hp1 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0248a0001c0001t0002g0247a0001c0001t0003g0249 | 3 | 262 | 0.0115 | 880 | c.56- others(895): Show |
LRP6 | ENSG00000070018.9 | transcript | ENST00000261349.9 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(873): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02683.hp2 NA20752.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0010t0023 | a0001c0001t0001g0197a0001c0001t0003g0046a0001c0010t0023g0267 | 3 | 276 | 0.0109 | 880 | c.100 others(899): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCTCCA others(873): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0090 | 1 | 276 | 0.0036 | 880 | c.100 others(899): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCTCCA others(873): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0002 | a0002c0007 | a0002c0007t0016 | a0002c0007t0016g0059a0002c0007t0016g0121 | 2 | 276 | 0.0073 | 880 | c.100 others(899): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCTCCA others(873): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 276 | 0.0036 | 880 | c.100 others(899): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCTCCA others(873): Show |
intron_variant | MODIFIER | HG03516.hp2 NA19030.hp2 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0011a0003c0009t0042 | a0001c0001t0011g0058a0003c0009t0042g0276 | 2 | 276 | 0.0073 | 880 | c.100 others(899): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502045 | C | CCCCCACA others(873): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0024 | a0024c0030 | a0024c0030t0030 | a0024c0030t0030g0269 | 1 | 292 | 0.0034 | 880 | c.218 others(897): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CGCTCCCC others(873): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0190 | 1 | 194 | 0.0052 | 880 | c.-12 others(899): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(873): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 330 | 0.0030 | 880 | c.-5+ others(895): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(873): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 330 | 0.0030 | 880 | c.-5+ others(895): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667955 | T | TCCCTTAC others(873): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0305 | 1 | 378 | 0.0027 | 880 | c.148 others(899): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532217 | C | CCCCCCGC others(873): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0213 | 1 | 322 | 0.0031 | 880 | c.*46 others(891): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2895 | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532331 | C | CTGCAGCC others(873): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0155 | 1 | 322 | 0.0031 | 880 | c.*47 others(891): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 3009 | chr18 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132148918 | C | CACCACAC others(873): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0181 | 1 | 294 | 0.0034 | 880 | c.901 others(893): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150628 | A | ACACCACA others(873): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 294 | 0.0034 | 880 | c.902 others(895): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535562 | G | GGTGGGTC others(873): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA20905.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0051a0001c0003t0002g0052a0001c0003t0002g0053 | 3 | 324 | 0.0093 | 880 | c.140 others(897): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535562 | G | GGTGGGTC others(873): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0008 | 1 | 324 | 0.0031 | 880 | c.140 others(897): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535823 | G | GGGTGGGT others(873): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0273 | 1 | 324 | 0.0031 | 880 | c.140 others(897): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800833 | G | GAAAAAAA others(873): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0009 | a0009c0013 | a0009c0013t0005 | a0009c0013t0005g0117 | 1 | 260 | 0.0039 | 880 | c.385 others(899): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NSUN4_chr1_46335807_46370018 | 46337331 | T | TAAAAATA others(873): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0169 | 1 | 388 | 0.0026 | 880 | c.-34 others(891): Show |
NSUN4 | ENSG00000117481.11 | transcript | ENST00000474844.6 | protein_coding | 3475 | chr1 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(873): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 880 | c.*31 others(891): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886826 | T | TTTCAGAA others(873): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 262 | 0.0038 | 880 | c.129 others(897): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(873): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 376 | 0.0027 | 880 | c.*15 others(891): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(873): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02922.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 3 | 300 | 0.0100 | 880 | c.117 others(897): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(873): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0018 | a0002c0018t0009 | a0002c0018t0009g0092 | 1 | 295 | 0.0034 | 880 | c.126 others(899): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SEMA5B_chr3_122904082_123032763 | 122934025 | G | GGCCTCCT others(873): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(88): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0027a0001c0032others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0019others(86): Show | 91 | 290 | 0.3138 | 880 | c.475 others(897): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | ||||||
SEMA5B_chr3_122904082_123032763 | 122934025 | G | GGCCTCCT others(873): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18941.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0214a0001c0001t0001g0279a0001c0001t0002g0120 | 3 | 290 | 0.0103 | 880 | c.475 others(897): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44302613 | T | TAGCAGGG others(873): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0067 | a0001c0067t0001 | a0001c0067t0001g0179 | 1 | 380 | 0.0026 | 880 | c.-32 others(897): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | ||||||
SLC6A11_chr3_10811228_10945714 | 10873397 | A | ATCCTATC others(873): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 362 | 0.0028 | 880 | c.757 others(897): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC6A11_chr3_10811228_10945714 | 10873402 | A | ATCCTATC others(873): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0063 | 1 | 362 | 0.0028 | 880 | c.757 others(897): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(873): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 340 | 0.0029 | 880 | c.*17 others(899): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGAGTG others(873): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02717.hp2 HG02896.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 10 | 420 | 0.0238 | 880 | c.*35 others(891): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(873): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0147 | 1 | 322 | 0.0031 | 880 | c.597 others(897): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(873): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0168 | 2 | 268 | 0.0075 | 880 | c.*73 others(891): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47128195 | T | TCCCTCCA others(873): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 112 | 0.0089 | 880 | c.142 others(901): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(873): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0033 | 1 | 112 | 0.0089 | 880 | c.142 others(899): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(873): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0046a0001c0001t0005g0041 | 2 | 112 | 0.0179 | 880 | c.142 others(899): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TH_chr11_2158929_2176815 | 2161961 | A | ACACCCCT others(873): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0063 | 1 | 388 | 0.0026 | 880 | c.*22 others(891): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1967 | chr11 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(873): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 128 | 0.0078 | 880 | c.143 others(901): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TNS1_chr2_217794791_218007995 | 217805592 | C | CCACCACA others(873): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0029a0050 | a0029c0066a0050c0124 | a0029c0066t0089a0050c0124t0096 | a0029c0066t0089g0126a0050c0124t0096g0107 | 2 | 244 | 0.0082 | 880 | c.537 others(897): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar |