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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1149): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0091 | 1 | 204 | 0.0049 | 1156 | c.978 others(1173): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIF3B_chr20_32272651_32340011 | 32322961 | C | CACATATT others(1149): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0105 | 1 | 242 | 0.0041 | 1156 | c.174 others(1175): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1149): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 108 | 0.0093 | 1156 | c.648 others(1175): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1149): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0043 | a0043c0024 | a0043c0024t0004 | a0043c0024t0004g0020 | 1 | 292 | 0.0034 | 1156 | c.218 others(1171): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1149): Show |
intron_variant | MODIFIER | HG00741.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0077a0002c0002t0004g0078 | 2 | 194 | 0.0103 | 1156 | c.-12 others(1175): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1149): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 456 | 0.0022 | 1156 | c.*31 others(1167): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1149): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 1156 | c.*31 others(1167): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241116006 | G | GTCCCCAA others(1149): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 |
a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0108a0008c0016t0001g0316 | 2 | 376 | 0.0053 | 1156 | c.307 others(1173): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | ||||||
PCID2_chr13_113172536_113213669 | 113176538 | A | AATTGCCC others(1149): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 414 | 0.0024 | 1156 | c.*16 others(1167): Show |
PCID2 | ENSG00000126226.22 | transcript | ENST00000337344.9 | protein_coding | 997 | chr13 | TogoVar | ||||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1149): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01167.hp1 others(11): Show |
a0003a0006 | a0003c0003a0006c0007 | a0003c0003t0003a0006c0007t0003 | a0003c0003t0003g0024a0003c0003t0003g0090a0003c0003t0003g0091others(10): Show | 14 | 420 | 0.0333 | 1156 | c.421 others(1169): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113176538 | A | AATTGCCC others(1149): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 378 | 0.0027 | 1156 | c.*44 others(1167): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4153 | chr13 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(1149): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 160 | 0.0063 | 1156 | c.389 others(1177): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1149): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 174 | 0.0058 | 1156 | c.148 others(1177): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1149): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1156 | c.*24 others(1167): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1150): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0150 | 1 | 248 | 0.0040 | 1157 | c.387 others(1176): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1150): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02055.hp2 |
a0001 | a0001c0003a0001c0013 | a0001c0003t0001a0001c0013t0001 | a0001c0003t0001g0029a0001c0013t0001g0037 | 2 | 248 | 0.0081 | 1157 | c.387 others(1176): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1150): Show |
intron_variant | MODIFIER | HG01256.hp2 HG04184.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0173a0001c0003t0001g0149 | 2 | 248 | 0.0081 | 1157 | c.387 others(1176): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176592442 | G | GATGGTGG others(1150): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0026 | a0002c0026t0001 | a0002c0026t0001g0293 | 1 | 344 | 0.0029 | 1157 | c.373 others(1174): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | chr5 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79685009 | G | GGTGCAGG others(1150): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0074 | 1 | 378 | 0.0027 | 1157 | c.314 others(1174): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCLK2_chr4_150073445_150262438 | 150251256 | C | CCCCCACA others(1150): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 116 | 0.0086 | 1157 | c.207 others(1176): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(1150): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0024 | a0024c0124 | a0024c0124t0001 | a0024c0124t0001g0205 | 1 | 256 | 0.0039 | 1157 | c.323 others(1176): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1150): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0097 | 1 | 292 | 0.0034 | 1157 | c.218 others(1172): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1150): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0091 | 1 | 326 | 0.0031 | 1157 | c.433 others(1174): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1150): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18988.hp1 NA19054.hp2 |
a0001a0002 | a0001c0001a0002c0033 | a0001c0001t0001a0002c0033t0002 | a0001c0001t0001g0019a0001c0001t0001g0020a0002c0033t0002g0017 | 3 | 134 | 0.0224 | 1157 | c.575 others(1178): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1150): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0008 | a0008c0053 | a0008c0053t0016 | a0008c0053t0016g0069 | 1 | 134 | 0.0075 | 1157 | c.575 others(1178): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1150): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03540.hp1 |
a0009a0011 | a0009c0054a0011c0017 | a0009c0054t0001a0011c0017t0005 | a0009c0054t0001g0082a0011c0017t0005g0080 | 2 | 134 | 0.0149 | 1157 | c.575 others(1178): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1150): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 HG02896.hp1 others(1): Show |
a0009a0011a0030others(1): Show | a0009c0056a0011c0017a0030c0055others(1): Show | a0009c0056t0001a0011c0017t0005a0030c0055t0002others(1): Show | a0009c0056t0001g0073a0011c0017t0005g0071a0030c0055t0002g0072others(1): Show | 4 | 134 | 0.0299 | 1157 | c.575 others(1178): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1150): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0222 | 1 | 420 | 0.0024 | 1157 | c.421 others(1170): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1150): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0155 | 1 | 420 | 0.0024 | 1157 | c.421 others(1170): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1150): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0093 | 1 | 420 | 0.0024 | 1157 | c.421 others(1170): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1150): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(30): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0002a0003c0003t0003a0006c0007t0003 | a0001c0001t0002g0086a0003c0003t0003g0011a0003c0003t0003g0014others(26): Show | 33 | 420 | 0.0786 | 1157 | c.421 others(1170): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1150): Show |
intron_variant | MODIFIER | HG01069.hp1 HG03490.hp1 |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0017 | a0003c0003t0003g0311a0003c0003t0017g0161 | 2 | 420 | 0.0048 | 1157 | c.421 others(1170): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137502693 | G | GTGGGAGA others(1150): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0161 | 1 | 188 | 0.0053 | 1157 | c.147 others(1174): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(1150): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 272 | 0.0037 | 1157 | c.-12 others(1178): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1150): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0269 | 2 | 304 | 0.0066 | 1157 | c.347 others(1172): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934388 | C | CATATATA others(1150): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 324 | 0.0031 | 1157 | c.115 others(1174): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLC9A1_chr1_27093809_27160125 | 27107220 | T | TACACACA others(1150): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 234 | 0.0043 | 1157 | c.128 others(1174): Show |
SLC9A1 | ENSG00000090020.11 | transcript | ENST00000263980.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1150): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1157 | c.*24 others(1168): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1150): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1157 | c.*24 others(1168): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1151): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01884.hp1 others(22): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0002t0001g0141a0001c0002t0001g0190a0001c0002t0002g0022others(22): Show | 25 | 246 | 0.1016 | 1158 | c.191 others(1177): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(1151): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02109.hp1 HG02451.hp2 others(5): Show |
a0004 | a0004c0005a0004c0008 | a0004c0005t0012a0004c0005t0100a0004c0005t0102others(4): Show | a0004c0005t0012g0076a0004c0005t0100g0080a0004c0005t0102g0254others(5): Show | 8 | 262 | 0.0305 | 1158 | c.775 others(1173): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1151): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 116 | 0.0086 | 1158 | c.-52 others(1179): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56097826 | T | TATAAATA others(1151): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0024 | a0001c0024t0022 | a0001c0024t0022g0148 | 1 | 264 | 0.0038 | 1158 | c.181 others(1177): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232186 | G | GTCACCAC others(1151): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 396 | 0.0025 | 1158 | c.513 others(1173): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(1151): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18994.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0030 | a0001c0001t0002g0110a0001c0002t0030g0125 | 2 | 230 | 0.0087 | 1158 | c.724 others(1177): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1151): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01070.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0002t0001g0203others(10): Show | 15 | 374 | 0.0401 | 1158 | c.772 others(1173): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1151): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0001a0001c0007t0001 | a0001c0005t0001g0016a0001c0005t0001g0133a0001c0005t0001g0135others(2): Show | 8 | 374 | 0.0214 | 1158 | c.772 others(1173): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1151): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0009 | a0001c0005t0001g0134a0001c0005t0001g0208a0001c0005t0001g0209others(3): Show | 6 | 374 | 0.0160 | 1158 | c.772 others(1173): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1151): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0158 | 1 | 242 | 0.0041 | 1158 | c.174 others(1177): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LARS1_chr5_146108034_146187650 | 146174471 | T | TATATATC others(1151): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0207 | 1 | 284 | 0.0035 | 1158 | c.126 others(1175): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar |