| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1156): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0258a0001c0001t0011g0098 | 2 | 370 | 0.0054 | 1163 | c.438 others(1180): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
| RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(1156): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0056 | 1 | 370 | 0.0027 | 1163 | c.438 others(1180): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 356450 | G | GTCTTCAC others(1156): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 133 | 0.0075 | 1163 | c.-39 others(1174): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1156): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0026 | 1 | 256 | 0.0039 | 1163 | c.365 others(1180): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288923 | C | CCGTGTCT others(1157): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 295 | 0.0034 | 1164 | c.*46 others(1175): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3467 | chr1 | TogoVar | ||||||
| ADAMTS3_chr4_72275969_72574221 | 72456215 | T | TTTATGTA others(1157): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0005 | a0005c0018 | a0005c0018t0018 | a0005c0018t0018g0031 | 1 | 182 | 0.0055 | 1164 | c.505 others(1183): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
| ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1157): Show |
3_prime_UTR_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0176 | 1 | 350 | 0.0029 | 1164 | c.*23 others(1175): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
| ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1157): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 246 | 0.0041 | 1164 | c.191 others(1183): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687687 | A | ACCCCGTG others(1157): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 246 | 0.0041 | 1164 | c.-20 others(1175): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1842 | chr8 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(1157): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 300 | 0.0033 | 1164 | c.654 others(1183): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25758861 | C | CCTAACTC others(1157): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0054 | a0054c0032 | a0054c0032t0001 | a0054c0032t0001g0036 | 1 | 300 | 0.0033 | 1164 | c.654 others(1183): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1157): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02965.hp1 HG03486.hp2 |
a0004 | a0004c0015a0004c0027 | a0004c0015t0002a0004c0027t0074 | a0004c0015t0002g0052a0004c0015t0002g0087a0004c0027t0074g0155 | 3 | 254 | 0.0118 | 1164 | c.305 others(1181): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(1157): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 142 | 0.0070 | 1164 | c.245 others(1181): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(1157): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0014 | 1 | 284 | 0.0035 | 1164 | c.411 others(1181): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1157): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0110 | 1 | 116 | 0.0086 | 1164 | c.-52 others(1185): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1157): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 208 | 0.0048 | 1164 | c.192 others(1183): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CYLC1_chrX_83856146_83891698 | 83878234 | A | AAAATATA others(1157): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 208 | 0.0048 | 1164 | c.192 others(1183): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400975 | C | CACCACCA others(1157): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0196 | 1 | 256 | 0.0039 | 1164 | c.323 others(1183): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| FAM240C_chr2_241888988_241905464 | 241896573 | G | GGGGGTGT others(1157): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 37 | 0.0270 | 1164 | c.161 others(1179): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132241936 | C | CCTTCCAG others(1157): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 183 | 0.0055 | 1164 | c.107 others(1183): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 312134 | C | CAGTGGTG others(1157): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0036 | a0002c0036t0001 | a0002c0036t0001g0071 | 1 | 155 | 0.0065 | 1164 | c.917 others(1179): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 6/9 | chrX | TogoVar | ||||||
| HIVEP3_chr1_41501365_41923922 | 41544864 | C | CCACCACT others(1157): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0130 | 1 | 134 | 0.0075 | 1164 | c.520 others(1185): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
| HPCAL1_chr2_10297904_10432604 | 10399445 | C | CCACCACC others(1157): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 314 | 0.0032 | 1164 | c.-25 others(1181): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| INPP5A_chr10_132532787_132788480 | 132622895 | C | CGTTCGTG others(1157): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 204 | 0.0049 | 1164 | c.117 others(1183): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1157): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0151 | 1 | 242 | 0.0041 | 1164 | c.174 others(1183): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| LMTK3_chr19_48480271_48516835 | 48514893 | A | AAAGAAAA others(1157): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0000 | a0000c0001 | a0000c0001t0001 | a0000c0001t0001g0033 | 1 | 314 | 0.0032 | 1164 | c.-33 others(1175): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 3059 | chr19 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(1157): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 290 | 0.0035 | 1164 | c.129 others(1183): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1157): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0062 | 1 | 108 | 0.0093 | 1164 | c.648 others(1183): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1157): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0016 | 1 | 108 | 0.0093 | 1164 | c.648 others(1183): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1157): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 318 | 0.0031 | 1164 | c.-49 others(1175): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1157): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 360 | 0.0028 | 1164 | c.456 others(1179): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PIEZO1_chr16_88710338_88790220 | 88731952 | T | TGGGGAGG others(1157): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0086 | a0086c0076 | a0086c0076t0001 | a0086c0076t0001g0176 | 1 | 282 | 0.0036 | 1164 | c.299 others(1179): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
| PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(1157): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0077 | 1 | 346 | 0.0029 | 1164 | c.176 others(1183): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
| PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(1157): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0057a0003c0003t0002g0068 | 2 | 346 | 0.0058 | 1164 | c.176 others(1183): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
| PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1157): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 312 | 0.0032 | 1164 | c.306 others(1183): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1157): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 432 | 0.0023 | 1164 | c.-37 others(1175): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1098278 | C | CTAACCCT others(1157): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 118 | 0.0085 | 1164 | c.125 others(1181): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
| SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1157): Show |
intron_variant | MODIFIER | HG04199.hp2 HG04228.hp2 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0049a0005c0010t0049 | a0001c0001t0049g0023a0005c0010t0049g0155 | 2 | 384 | 0.0052 | 1164 | c.272 others(1183): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1157): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03130.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0034 | a0001c0001t0018g0247a0001c0001t0018g0248a0001c0002t0034g0124 | 3 | 256 | 0.0117 | 1164 | c.365 others(1181): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1157): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0087 | 1 | 256 | 0.0039 | 1164 | c.365 others(1181): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
| USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1157): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 167 | 0.0060 | 1164 | c.*53 others(1175): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
| ZDHHC20_chr13_21367571_21464303 | 21377227 | C | CGATCTGA others(1157): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0031 | 1 | 302 | 0.0033 | 1164 | c.*41 others(1179): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
| CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1158): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0063 | 1 | 116 | 0.0086 | 1165 | c.-52 others(1186): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DIDO1_chr20_62872743_62931505 | 62875254 | C | CCACCCCC others(1158): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0024 | a0024c0040 | a0024c0040t0001 | a0024c0040t0001g0244 | 1 | 320 | 0.0031 | 1165 | c.*39 others(1176): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2488 | chr20 | TogoVar | ||||||
| GPIHBP1_chr8_143208218_143222170 | 143218244 | C | CAACACCA others(1158): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 106 | 0.0094 | 1165 | c.*27 others(1176): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1075 | chr8 | TogoVar | ||||||
| LMTK3_chr19_48480271_48516835 | 48514892 | A | AAAAGAAA others(1158): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG03139.hp1 HG03471.hp1 |
a0000a0002 | a0000c0001a0002c0003 | a0000c0001t0001a0000c0001t0002a0002c0003t0002 | a0000c0001t0001g0049a0000c0001t0002g0278a0002c0003t0002g0277 | 3 | 314 | 0.0096 | 1165 | c.-33 others(1176): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 3058 | chr19 | TogoVar | ||||||
| LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1158): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0009 | a0001c0009t0091 | a0001c0009t0091g0090 | 1 | 108 | 0.0093 | 1165 | c.648 others(1184): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1158): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0145 | 1 | 318 | 0.0031 | 1165 | c.-49 others(1176): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
| MGMT_chr10_129462241_129775983 | 129518568 | C | CGCTCCCC others(1158): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 194 | 0.0052 | 1165 | c.-12 others(1184): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1098238 | A | ACCCAGGC others(1158): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 NA18906.hp2 |
a0001 | a0001c0007a0001c0014 | a0001c0007t0012a0001c0014t0003 | a0001c0007t0012g0001a0001c0014t0003g0058a0001c0014t0003g0059 | 3 | 118 | 0.0254 | 1165 | c.125 others(1182): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar |