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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTLL8_chr22_50013575_50063298 | 50028975 | C | CCCCCACA others(1032): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 224 | 0.0045 | 1039 | c.225 others(1058): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222265 | C | CACTACCA others(1032): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 360 | 0.0028 | 1039 | c.*24 others(1050): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2011 | chr6 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1032): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 HG01943.hp1 HG01975.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0001a0001c0004t0003others(2): Show | a0001c0002t0003g0051a0001c0002t0003g0058a0001c0004t0001g0141others(5): Show | 8 | 202 | 0.0396 | 1039 | c.*53 others(1050): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1032): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0059 | 1 | 202 | 0.0050 | 1039 | c.*53 others(1050): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(1033): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 262 | 0.0038 | 1040 | c.106 others(1059): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1033): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 238 | 0.0042 | 1040 | c.787 others(1055): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1033): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 318 | 0.0031 | 1040 | c.285 others(1059): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1033): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0114 | 1 | 318 | 0.0031 | 1040 | c.285 others(1059): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1033): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 318 | 0.0031 | 1040 | c.285 others(1059): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1033): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 318 | 0.0031 | 1040 | c.285 others(1059): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1033): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0216a0001c0002t0002g0218 | 2 | 318 | 0.0063 | 1040 | c.285 others(1059): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1033): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 318 | 0.0031 | 1040 | c.285 others(1059): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1033): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0257 | 2 | 318 | 0.0063 | 1040 | c.285 others(1059): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1033): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 318 | 0.0031 | 1040 | c.285 others(1059): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400231 | C | CCCTCCCC others(1033): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0052 | 1 | 210 | 0.0048 | 1040 | c.273 others(1057): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25758861 | C | CCTAACTC others(1033): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0015 | a0015c0024 | a0015c0024t0001 | a0015c0024t0001g0020 | 1 | 300 | 0.0033 | 1040 | c.654 others(1059): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(1033): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 391 | 0.0026 | 1040 | c.*36 others(1051): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331582 | C | CCCCAGGC others(1033): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0016 | 1 | 106 | 0.0094 | 1040 | c.169 others(1059): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1033): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG02559.hp2 |
a0002a0003a0012 | a0002c0002a0003c0026a0012c0062 | a0002c0002t0003a0003c0026t0022a0012c0062t0097 | a0002c0002t0003g0239a0003c0026t0022g0195a0012c0062t0097g0307 | 3 | 334 | 0.0090 | 1040 | c.-25 others(1051): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1033): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0106 | 1 | 334 | 0.0030 | 1040 | c.-25 others(1051): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1033): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0146 | 1 | 278 | 0.0036 | 1040 | c.328 others(1057): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929387 | G | GGGGACAG others(1033): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0094 | 1 | 278 | 0.0036 | 1040 | c.328 others(1057): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1033): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0028 | 1 | 175 | 0.0057 | 1040 | c.164 others(1059): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1033): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0130a0001c0001t0006g0099a0001c0001t0006g0100others(3): Show | 6 | 364 | 0.0165 | 1040 | c.445 others(1055): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(1033): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0256 | 1 | 344 | 0.0029 | 1040 | c.85- others(1057): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1033): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 272 | 0.0037 | 1040 | c.109 others(1059): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15932685 | G | GAGAGGAA others(1033): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0047 | 1 | 386 | 0.0026 | 1040 | c.198 others(1057): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932725 | G | GAGAGGAA others(1033): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0019 | 1 | 386 | 0.0026 | 1040 | c.198 others(1057): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932745 | G | GAGAGGAA others(1033): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0025 | 1 | 386 | 0.0026 | 1040 | c.198 others(1057): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933405 | G | GAGAGGAA others(1033): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0001 | a0002c0001t0164 | a0002c0001t0164g0316 | 1 | 386 | 0.0026 | 1040 | c.198 others(1055): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(1033): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0148 | 1 | 230 | 0.0044 | 1040 | c.724 others(1059): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 894845 | G | GCTGGCAG others(1033): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0031 | 1 | 40 | 0.0250 | 1040 | c.19- others(1057): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1033): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0150 | a0150c0231 | a0150c0231t0001 | a0150c0231t0001g0136 | 1 | 252 | 0.0040 | 1040 | c.118 others(1059): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1033): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 290 | 0.0035 | 1040 | c.162 others(1059): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1033): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 290 | 0.0035 | 1040 | c.162 others(1059): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1033): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 290 | 0.0035 | 1040 | c.162 others(1059): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635057 | G | GATGGATG others(1033): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0373 | 1 | 388 | 0.0026 | 1040 | c.59- others(1055): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(1033): Show |
intron_variant | MODIFIER | HG02451.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0057 | a0001c0001t0006g0054a0001c0001t0057g0048 | 2 | 96 | 0.0208 | 1040 | c.-16 others(1061): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315691 | C | CGCAGACA others(1033): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0100 | 1 | 155 | 0.0065 | 1040 | c.488 others(1055): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(1033): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 375 | 0.0027 | 1040 | c.-19 others(1051): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(1033): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0231 | 1 | 290 | 0.0035 | 1040 | c.129 others(1057): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(1033): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0026 | a0003c0026t0002 | a0003c0026t0002g0029 | 1 | 280 | 0.0036 | 1040 | c.641 others(1055): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1033): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 394 | 0.0025 | 1040 | c.-8+ others(1053): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1033): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 384 | 0.0026 | 1040 | c.160 others(1057): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1033): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02970.hp2 HG03579.hp1 |
a0030a0067 | a0030c0028a0067c0040 | a0030c0028t0001a0067c0040t0001 | a0030c0028t0001g0107a0030c0028t0001g0117a0067c0040t0001g0171 | 3 | 228 | 0.0132 | 1040 | c.252 others(1059): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79532291 | C | CTGCAGTC others(1033): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0253 | 1 | 322 | 0.0031 | 1040 | c.*47 others(1051): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2969 | chr18 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124138645 | T | TATTAATA others(1033): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0027 | 1 | 66 | 0.0152 | 1040 | c.55- others(1059): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGA others(1033): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 388 | 0.0026 | 1040 | c.-72 others(1049): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGG others(1033): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 388 | 0.0026 | 1040 | c.-72 others(1049): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841443 | T | TCCTCCCG others(1033): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 242 | 0.0041 | 1040 | c.361 others(1059): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar |