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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(867): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0160 others(7): Show |
10 | 12 | 0.8333 | 874 | c.-12 others(893): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(867): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0003 | a0003c0003t0019 | a0003c0003t0019g0042 | 1 | 3 | 0.3333 | 874 | c.-12 others(893): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0194 | 1 | 139 | 0.0072 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0159 | 1 | 139 | 0.0072 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 |
a0007 | a0007c0021 | a0007c0021t0003a0007c0021t0004 | a0007c0021t0003g0200 a0007c0021t0004g0032 |
2 | 140 | 0.0143 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18967.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0233 a0001c0001t0003g0308 a0001c0001t0007g0232 |
3 | 141 | 0.0213 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0191 | 1 | 139 | 0.0072 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18964.hp1 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007 | a0001c0001t0003g0225 a0001c0001t0003g0296 a0001c0001t0003g0297 others(2): Show |
5 | 143 | 0.0350 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
a0001a0023 | a0001c0004a0001c0005a0001c0044others(1): Show | a0001c0004t0003a0001c0005t0008a0001c0044t0008others(1): Show | a0001c0004t0003g0313 a0001c0005t0008g0009 a0001c0005t0008g0016 others(2): Show |
5 | 143 | 0.0350 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0237 | 1 | 139 | 0.0072 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(867): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 NA19079.hp2 NA19085.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 3 | 137 | 0.0219 | 874 | c.*31 others(885): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(867): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 135 | 0.0074 | 874 | c.*31 others(885): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(867): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 | 1 | 13 | 0.0769 | 874 | c.215 others(891): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(867): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02056.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0071 a0002c0002t0001g0170 others(2): Show |
7 | 19 | 0.3684 | 874 | c.215 others(891): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(867): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0035 | a0035c0037 | a0035c0037t0001 | a0035c0037t0001g0011 | 1 | 24 | 0.0417 | 874 | c.371 others(891): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137518738 | C | CCACTCCA others(867): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0073 | 1 | 158 | 0.0063 | 874 | c.108 others(893): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325135 | T | TGAGTGAG others(867): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 | 2 | 390 | 0.0051 | 874 | c.194 others(891): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(867): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 19 | 0.0526 | 874 | c.24+ others(891): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(867): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 others(13): Show |
16 | 214 | 0.0748 | 874 | c.-26 others(893): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(867): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 199 | 0.0050 | 874 | c.-26 others(893): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(867): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 | 1 | 199 | 0.0050 | 874 | c.-26 others(893): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(867): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 283 | 0.0035 | 874 | c.-12 others(885): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414446 | G | GGGAGGGG others(867): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 306 | 0.0033 | 874 | c.115 others(891): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414453 | G | GCAGGGCG others(867): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 312 | 0.0032 | 874 | c.115 others(891): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914319 | C | CTGTATGT others(867): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 330 | 0.0030 | 874 | c.*36 others(885): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2634 | chr9 | TogoVar | |||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(867): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0137 | 1 | 179 | 0.0056 | 874 | c.600 others(893): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204100 | T | TATACTAT others(867): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 141 | 0.0071 | 874 | c.41- others(891): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(867): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 35 | 0.0286 | 874 | c.*35 others(893): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGAGGGAG others(867): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 113 | 0.0088 | 874 | c.*53 others(885): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159088831 | G | GGGAATGG others(867): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 323 | 0.0031 | 874 | c.357 others(893): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(868): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 30 | 0.0333 | 875 | c.505 others(894): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(868): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0069 | 1 | 30 | 0.0333 | 875 | c.505 others(894): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(868): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 30 | 0.0333 | 875 | c.505 others(894): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(868): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 206 | 0.0049 | 875 | c.106 others(894): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1825109 | C | CCGCACCC others(868): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0010 | a0010c0097 | a0010c0097t0017 | a0010c0097t0017g0259 | 1 | 362 | 0.0028 | 875 | c.-48 others(890): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366255 | A | AGAAAGGT others(868): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0021 | a0021c0036 | a0021c0036t0006 | a0021c0036t0006g0002 | 1 | 3 | 0.3333 | 875 | c.830 others(892): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132822274 | G | GATGTGTG others(868): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0063 | a0063c0067 | a0063c0067t0002 | a0063c0067t0002g0013 | 1 | 244 | 0.0041 | 875 | c.711 others(894): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19461481 | A | AGGACCTA others(868): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0169 | 1 | 212 | 0.0047 | 875 | c.635 others(892): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19461746 | C | CCACATTC others(868): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 155 | 0.0065 | 875 | c.635 others(892): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19461746 | C | CCACATTC others(868): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01361.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0069 a0001c0001t0001g0110 a0001c0001t0002g0208 others(2): Show |
5 | 159 | 0.0314 | 875 | c.635 others(892): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232250 | G | GTCACCAC others(868): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 2 | 315 | 0.0063 | 875 | c.513 others(890): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238178 | G | GAGGAATG others(868): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0142 | 1 | 197 | 0.0051 | 875 | c.923 others(894): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(868): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0197 | 1 | 83 | 0.0120 | 875 | c.724 others(894): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DDX17_chr22_38478438_38511311 | 38509490 | T | TTATCAAT others(868): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 362 | 0.0028 | 875 | c.-32 others(886): Show |
DDX17 | ENSG00000100201.23 | transcript | ENST00000403230.3 | protein_coding | 3180 | chr22 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(868): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0027 | a0027c0017 | a0027c0017t0001 | a0027c0017t0001g0007 | 1 | 9 | 0.1111 | 875 | c.120 others(892): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586401 | C | CGGGGGGG others(868): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0298 | 1 | 227 | 0.0044 | 875 | c.157 others(892): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(868): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0270 | 1 | 172 | 0.0058 | 875 | c.157 others(892): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807650 | T | TCCCTCCC others(868): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0036 | 1 | 297 | 0.0034 | 875 | c.*34 others(886): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3364 | chr2 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599504 | G | GTCCGGGA others(868): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0011 | a0011c0012 | a0011c0012t0003 | a0011c0012t0003g0052 | 1 | 322 | 0.0031 | 875 | c.369 others(892): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173155 | T | TCCCCCTC others(868): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0032 | a0001c0032t0035 | a0001c0032t0035g0125 | 1 | 154 | 0.0065 | 875 | c.*11 others(896): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |