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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2123): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0028 | a0001c0002t0009g0297a0001c0002t0028g0288a0001c0002t0028g0289 | 3 | 362 | 0.0083 | 2130 | c.-56 others(2149): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PLEKHN1_chr1_961482_980865 | 978002 | A | AGGAACCG others(2123): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0099 | 1 | 422 | 0.0024 | 2130 | c.*34 others(2141): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2138 | chr1 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(2123): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 338 | 0.0030 | 2130 | c.*35 others(2149): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2123): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0000 | a0000c0008 | a0000c0008t0009 | a0000c0008t0009g0207 | 1 | 418 | 0.0024 | 2130 | c.341 others(2147): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706873 | G | GAAGTTAT others(2123): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02886.hp1 HG03579.hp1 |
a0005 | a0005c0006 | a0005c0006t0010 | a0005c0006t0010g0024 | 3 | 418 | 0.0072 | 2130 | c.341 others(2147): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706449 | C | CATAGATA others(2124): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0278 | 1 | 292 | 0.0034 | 2131 | c.228 others(2148): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATAGATA others(2124): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0251 | 1 | 292 | 0.0034 | 2131 | c.228 others(2148): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATAGATA others(2124): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0003 | 1 | 369 | 0.0027 | 2131 | c.-49 others(2142): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2124): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0054 | 1 | 158 | 0.0063 | 2131 | c.*11 others(2152): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 903788 | C | CTGCACTG others(2124): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02135.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0189a0001c0001t0001g0190 | 3 | 294 | 0.0102 | 2131 | c.663 others(2148): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2124): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01258.hp1 HG01891.hp1 others(13): Show |
a0001a0002a0003 | a0001c0004a0001c0008a0001c0011others(7): Show | a0001c0004t0003a0001c0008t0003a0001c0008t0004others(9): Show | a0001c0004t0003g0093a0001c0008t0003g0065a0001c0008t0004g0066others(13): Show | 16 | 160 | 0.1000 | 2131 | c.742 others(2148): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0313a0001c0002t0003g0333a0001c0002t0003g0338others(3): Show | 6 | 362 | 0.0166 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00673.hp2 others(37): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0003a0001c0002t0009a0001c0002t0017others(5): Show | a0001c0002t0003g0300a0001c0002t0003g0301a0001c0002t0003g0303others(37): Show | 40 | 362 | 0.1105 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | NA19009.hp2 NA19080.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0309a0001c0002t0003g0314 | 2 | 362 | 0.0055 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0343 | 1 | 362 | 0.0028 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18994.hp1 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0295a0001c0002t0016g0354 | 2 | 362 | 0.0055 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0324 | 1 | 362 | 0.0028 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0302 | 1 | 362 | 0.0028 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(2124): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 295 | 0.0034 | 2131 | c.126 others(2150): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2124): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 320 | 0.0031 | 2131 | c.356 others(2146): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2124): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0000 | a0000c0018 | a0000c0018t0009 | a0000c0018t0009g0123 | 1 | 418 | 0.0024 | 2131 | c.341 others(2148): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706873 | G | GAAGTTAT others(2124): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0060 | 1 | 418 | 0.0024 | 2131 | c.341 others(2148): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 344 | 0.0029 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0161 | 1 | 344 | 0.0029 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0256 | 1 | 344 | 0.0029 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01106.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021a0001c0003t0001g0061a0001c0003t0001g0107others(4): Show | 8 | 344 | 0.0233 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0048 | 1 | 344 | 0.0029 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0099 | 1 | 344 | 0.0029 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01258.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 | 2 | 344 | 0.0058 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2125): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 175 | 0.0057 | 2132 | c.164 others(2151): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2125): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312a0001c0001t0001g0313 | 2 | 345 | 0.0058 | 2132 | c.*16 others(2143): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2125): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 421 | 0.0048 | 2132 | c.*22 others(2143): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328230 | A | ATGGGCTG others(2125): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 2 | 416 | 0.0048 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2125): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0070 | 1 | 416 | 0.0024 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2125): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0124 | 1 | 416 | 0.0024 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2125): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0106 | 1 | 416 | 0.0024 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2125): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 416 | 0.0024 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2125): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0342 | 1 | 416 | 0.0024 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 397 | 0.0025 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 2 | 397 | 0.0050 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0020 | 4 | 397 | 0.0101 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01106.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0019a0001c0001t0002g0068others(1): Show | 7 | 397 | 0.0176 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 397 | 0.0025 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 397 | 0.0025 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 2 | 397 | 0.0050 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02622.hp1 HG02818.hp1 others(5): Show |
a0001a0003 | a0001c0009a0001c0021a0001c0023others(3): Show | a0001c0009t0008a0001c0021t0008a0001c0023t0010others(4): Show | a0001c0009t0008g0110a0001c0009t0008g0111a0001c0021t0008g0058others(5): Show | 8 | 160 | 0.0500 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0028 | a0001c0028t0043 | a0001c0028t0043g0079 | 1 | 160 | 0.0063 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0017 | a0001c0017t0003 | a0001c0017t0003g0044 | 1 | 160 | 0.0063 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0001 | a0001c0018 | a0001c0018t0007 | a0001c0018t0007g0104a0001c0018t0007g0105 | 2 | 160 | 0.0125 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00733.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0007others(16): Show | a0001c0003t0001a0001c0003t0009a0001c0004t0035others(22): Show | a0001c0003t0001g0100a0001c0003t0009g0075a0001c0004t0035g0084others(25): Show | 28 | 160 | 0.1750 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar |