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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1170): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0260 | 1 | 358 | 0.0028 | 1177 | c.236 others(1196): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619474 | C | CCTGCAGC others(1170): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 250 | 0.0040 | 1177 | c.-10 others(1196): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89634674 | C | CCCTTCCT others(1170): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0085 | 1 | 250 | 0.0040 | 1177 | c.105 others(1194): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1170): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 374 | 0.0027 | 1177 | c.*14 others(1188): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322345 | A | AATATATA others(1170): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0056 | 1 | 323 | 0.0031 | 1177 | c.-27 others(1188): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2624 | chr21 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132774881 | A | AGAGGGAC others(1170): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 204 | 0.0049 | 1177 | c.978 others(1194): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62360413 | G | GTGGGTGC others(1170): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0022 | a0022c0035 | a0022c0035t0001 | a0022c0035t0001g0174 | 1 | 186 | 0.0054 | 1177 | c.450 others(1194): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(1170): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 356 | 0.0028 | 1177 | c.91+ others(1190): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGAGG others(1170): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0236 | 1 | 324 | 0.0031 | 1177 | c.140 others(1194): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1170): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01256.hp1 HG01257.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0050others(16): Show | 23 | 360 | 0.0639 | 1177 | c.456 others(1192): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PDPR_chr16_70109332_70167537 | 70117270 | T | TTTGGGAG others(1170): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 1 | 289 | 0.0035 | 1177 | c.-33 others(1194): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1170): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 322 | 0.0031 | 1177 | c.-93 others(1194): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SAMD11_chr1_918923_949574 | 934833 | C | CCGTTACA others(1170): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0019 | a0019c0041 | a0019c0041t0003 | a0019c0041t0003g0160 | 1 | 434 | 0.0023 | 1177 | c.843 others(1192): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GGAGAAGG others(1170): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0176 | 1 | 214 | 0.0047 | 1177 | c.206 others(1196): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1170): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02647.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0036a0001c0003t0001 | a0001c0001t0036g0102a0001c0003t0001g0238 | 2 | 256 | 0.0078 | 1177 | c.365 others(1194): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(1170): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 338 | 0.0030 | 1177 | c.*35 others(1196): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294469 | G | GAGTCAGC others(1170): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 404 | 0.0050 | 1177 | c.340 others(1194): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1170): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0052 | 1 | 126 | 0.0079 | 1177 | c.-28 others(1196): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049536 | C | CGTGAGCC others(1171): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 30 | 0.0333 | 1178 | c.255 others(1195): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1171): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 416 | 0.0024 | 1178 | c.*10 others(1191): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1171): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0000 | 1 | 416 | 0.0024 | 1178 | c.*10 others(1191): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1171): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 416 | 0.0024 | 1178 | c.*10 others(1191): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1171): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01192.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0061a0001c0001t0064 | a0001c0001t0006g0000a0001c0001t0061g0000a0001c0001t0064g0000 | 4 | 416 | 0.0096 | 1178 | c.*10 others(1191): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 384908 | T | TGGGCAAG others(1171): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 NA20805.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0001 | a0001c0003t0002g0169a0002c0002t0001g0152 | 2 | 184 | 0.0109 | 1178 | c.*31 others(1189): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2792 | chr11 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1171): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01433.hp2 others(17): Show |
a0002a0018a0021 | a0002c0001a0002c0023a0018c0035others(1): Show | a0002c0001t0001a0002c0023t0001a0018c0035t0001others(1): Show | a0002c0001t0001g0006a0002c0001t0001g0008a0002c0001t0001g0060others(15): Show | 20 | 344 | 0.0581 | 1178 | c.373 others(1195): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CENPM_chr22_41933737_41952152 | 41939886 | G | GAAAGAAA others(1171): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 258 | 0.0039 | 1178 | c.403 others(1193): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1171): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0076 | 1 | 272 | 0.0037 | 1178 | c.109 others(1197): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1171): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0005 | a0001c0005t0054 | a0001c0005t0054g0167 | 1 | 272 | 0.0037 | 1178 | c.109 others(1197): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1171): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0260 | 1 | 276 | 0.0036 | 1178 | c.*52 others(1189): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(1171): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 396 | 0.0025 | 1178 | c.513 others(1195): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1171): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0263 | 1 | 396 | 0.0025 | 1178 | c.218 others(1195): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1171): Show |
intron_variant | MODIFIER | NA18993.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0037a0001c0001t0007g0121 | 2 | 148 | 0.0135 | 1178 | c.183 others(1197): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1171): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 3 | 374 | 0.0080 | 1178 | c.772 others(1193): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1171): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01081.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0024a0001c0009t0001g0060 | 4 | 374 | 0.0107 | 1178 | c.772 others(1193): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896582 | G | GGTGTTGG others(1171): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 37 | 0.0270 | 1178 | c.161 others(1193): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
FNDC10_chr1_1593012_1605135 | 1595237 | A | ACACAGAG others(1171): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 406 | 0.0049 | 1178 | c.*40 others(1189): Show |
FNDC10 | ENSG00000228594.4 | transcript | ENST00000422725.4 | protein_coding | 2774 | chr1 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1171): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG01433.hp2 others(20): Show |
a0002a0011 | a0002c0002a0011c0008 | a0002c0002t0001a0011c0008t0001 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0006others(6): Show | 23 | 397 | 0.0579 | 1178 | c.*50 others(1189): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1171): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040 | 1 | 312 | 0.0032 | 1178 | c.-41 others(1193): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997286 | G | GGGGTCGG others(1171): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0140 | 1 | 375 | 0.0027 | 1178 | c.-21 others(1189): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 384 | chr6 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507162 | G | GATAGGGA others(1171): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 260 | 0.0039 | 1178 | c.624 others(1195): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953966 | C | CTCCTGCA others(1171): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0070 | 1 | 294 | 0.0034 | 1178 | c.503 others(1193): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1171): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0203 | 1 | 292 | 0.0034 | 1178 | c.218 others(1193): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518572 | C | CCCCCTCC others(1171): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0088 | 1 | 194 | 0.0052 | 1178 | c.-12 others(1197): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17877301 | G | GGTTAGGG others(1171): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 274 | 0.0037 | 1178 | c.224 others(1197): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1171): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0031 | a0002c0031t0001 | a0002c0031t0001g0137 | 1 | 208 | 0.0048 | 1178 | c.279 others(1193): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1171): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 360 | 0.0028 | 1178 | c.456 others(1193): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1171): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 360 | 0.0028 | 1178 | c.456 others(1193): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1171): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0166 | 1 | 188 | 0.0053 | 1178 | c.147 others(1195): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314675 | T | TCTGTGCT others(1171): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0005a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(15): Show | a0001c0001t0001g0089a0001c0001t0001g0133a0001c0001t0003g0034others(23): Show | 26 | 133 | 0.1955 | 1178 | c.351 others(1195): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314675 | T | TCTGTGCT others(1171): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 133 | 0.0075 | 1178 | c.351 others(1195): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar |