view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIN1_chr2_127043032_127112154 | 127105467 | C | CCCTCCTC others(383): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 128 | 0.0078 | 390 | c.84+ others(405): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(383): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00738.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0060 others(17): Show |
23 | 77 | 0.2987 | 390 | c.*21 others(405): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(383): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 55 | 0.0182 | 390 | c.*21 others(405): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(383): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 55 | 0.0182 | 390 | c.*21 others(405): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1077605 | A | AGGCTGAG others(383): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 244 | 0.0041 | 390 | c.*52 others(401): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4217 | chr1 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404061 | T | TGAGGGGG others(383): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0029 | 1 | 197 | 0.0051 | 390 | c.*30 others(401): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1383 | chr19 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62397926 | G | GTGGTGGT others(383): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 2 | 397 | 0.0050 | 390 | c.363 others(407): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39596319 | G | GAGCAGGA others(383): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0184 | 1 | 206 | 0.0049 | 390 | c.237 others(407): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50480935 | G | GAAGGGGG others(383): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 73 | 0.0137 | 390 | c.207 others(407): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50480935 | G | GAAGGGGG others(383): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0013 | 1 | 73 | 0.0137 | 390 | c.207 others(407): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25459267 | T | TTTCTTTC others(383): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0085 | 1 | 156 | 0.0064 | 390 | c.615 others(407): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55384523 | A | ATATATAC others(383): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00733.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0014a0001c0017others(1): Show | a0001c0001t0001a0001c0014t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0212 a0001c0001t0001g0244 a0001c0001t0001g0246 others(9): Show |
12 | 134 | 0.0896 | 390 | c.273 others(407): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
CCDC88A_chr2_55282842_55424856 | 55384560 | C | CATATATA others(383): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 309 | 0.0032 | 390 | c.273 others(407): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293567 | G | GGCCCACC others(383): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0050 | a0001c0050t0001 | a0001c0050t0001g0220 | 1 | 106 | 0.0094 | 390 | c.411 others(407): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293581 | T | TCCCCTCA others(383): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0276 | 1 | 243 | 0.0041 | 390 | c.411 others(407): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CDC42SE2_chr5_131259053_131399672 | 131278738 | C | CCCTCCCC others(383): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0228 | 1 | 253 | 0.0040 | 390 | c.-45 others(411): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881852 | C | CTATATAG others(383): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 | 1 | 430 | 0.0023 | 390 | c.*13 others(401): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 426 | chr13 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(383): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0010 | a0010c0020 | a0010c0020t0002 | a0010c0020t0002g0123 | 1 | 4 | 0.2500 | 390 | c.342 others(409): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(383): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0105 | 1 | 4 | 0.2500 | 390 | c.342 others(409): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(383): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0022 | a0002c0022t0002 | a0002c0022t0002g0049 | 1 | 4 | 0.2500 | 390 | c.342 others(409): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114198654 | T | TGTACGGT others(383): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02083.hp2 NA18984.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0265 a0001c0001t0004g0031 a0001c0001t0004g0238 others(2): Show |
6 | 381 | 0.0157 | 390 | c.172 others(407): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | chr13 | TogoVar | |||||||
CFAP97D2_chr13_114174257_114228085 | 114198673 | C | CGTGACGG others(383): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 325 | 0.0031 | 390 | c.172 others(407): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114198673 | C | CGTGACGG others(383): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01891.hp1 HG02132.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(21): Show |
26 | 350 | 0.0743 | 390 | c.172 others(407): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114198673 | C | CGTGACGG others(383): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 325 | 0.0031 | 390 | c.172 others(407): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85911175 | G | GTGTGTAT others(383): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 232 | 0.0043 | 390 | c.124 others(405): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101223530 | T | TACTTCCA others(383): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01099.hp2 HG01167.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0008a0002c0002t0025a0002c0002t0045others(2): Show | a0001c0001t0008g0046 a0002c0002t0025g0195 a0002c0002t0045g0196 others(12): Show |
15 | 366 | 0.0410 | 390 | c.816 others(409): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203411 | A | ACACATAC others(383): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0083 | 1 | 342 | 0.0029 | 390 | c.88- others(407): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COQ8A_chr1_226935294_226992544 | 226960391 | A | AGTGGTAC others(383): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02027.hp1 HG02071.hp1 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0047 a0003c0005t0005g0328 a0003c0005t0005g0330 others(3): Show |
7 | 26 | 0.2692 | 390 | c.-9- others(403): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587759 | G | GCGTGTCA others(383): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 313 | 0.0032 | 390 | c.927 others(405): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3411825 | T | TATACGTG others(383): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0008 | a0008c0029 | a0008c0029t0013 | a0008c0029t0013g0054 | 1 | 107 | 0.0093 | 390 | c.156 others(409): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CTNS_chr17_3631760_3668103 | 3656157 | T | TTCCACCC others(383): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0041 | 2 | 135 | 0.0148 | 390 | c.462 others(405): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CYP4F12_chr19_15668087_15702174 | 15676979 | A | ATTCCTCT others(383): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0231 | 1 | 407 | 0.0025 | 390 | c.199 others(407): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 2/12 | chr19 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958136 | A | AACCATCA others(383): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0003a0001c0002t0024a0001c0002t0028others(3): Show | a0001c0002t0003g0137 a0001c0002t0024g0193 a0001c0002t0028g0082 others(3): Show |
6 | 197 | 0.0305 | 390 | c.724 others(409): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(383): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 164 | 0.0061 | 390 | c.-42 others(401): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947281 | A | ATGGTGGT others(383): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0101 | 1 | 132 | 0.0076 | 390 | c.47- others(407): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486940 | C | CTCCCCCC others(383): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0121 | 1 | 52 | 0.0192 | 390 | c.*13 others(401): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1073 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63487068 | T | TCCTCCAC others(383): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0061 others(4): Show |
10 | 358 | 0.0279 | 390 | c.*12 others(401): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 945 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63487068 | T | TCCTCCAC others(383): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0057 |
2 | 350 | 0.0057 | 390 | c.*12 others(401): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 945 | chr20 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927954 | G | GTGGAGGT others(383): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0024 | 1 | 278 | 0.0036 | 390 | c.190 others(409): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | chr14 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(383): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0210 | 1 | 230 | 0.0043 | 390 | c.190 others(409): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928044 | A | ATGGTGGT others(383): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0080 | 1 | 133 | 0.0075 | 390 | c.190 others(409): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1121931 | G | GCCTATTG others(383): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 128 | 0.0078 | 390 | c.156 others(409): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | chr12 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329763 | G | GGGGCTAC others(383): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0024 | a0024c0036 | a0024c0036t0001 | a0024c0036t0001g0003 | 1 | 62 | 0.0161 | 390 | c.199 others(409): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60861204 | T | TATATATG others(383): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0033 | 1 | 23 | 0.0435 | 390 | c.-11 others(411): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586400 | G | GCGGGGGG others(383): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0283 | 1 | 227 | 0.0044 | 390 | c.157 others(407): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CCGGGGGG others(383): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 271 | 0.0037 | 390 | c.157 others(407): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252950 | T | TCACCACC others(383): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0069 | 1 | 262 | 0.0038 | 390 | c.666 others(407): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53713134 | A | AGGCAACA others(383): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01081.hp1 others(19): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0006a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0081 a0001c0001t0001g0110 a0001c0001t0001g0114 others(19): Show |
22 | 66 | 0.3333 | 390 | c.259 others(409): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53713407 | G | GGGCAACA others(383): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03540.hp2 NA18906.hp2 |
a0001a0006a0008 | a0001c0001a0006c0007a0008c0011 | a0001c0001t0002a0006c0007t0004a0008c0011t0005 | a0001c0001t0002g0232 a0006c0007t0004g0091 a0008c0011t0005g0076 |
3 | 223 | 0.0135 | 390 | c.259 others(409): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53713440 | C | CAGCCTGG others(383): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02145.hp1 HG02723.hp1 |
a0004a0007 | a0004c0004a0007c0008 | a0004c0004t0003a0007c0008t0003 | a0004c0004t0003g0040 a0007c0008t0003g0014 a0007c0008t0003g0041 |
3 | 165 | 0.0182 | 390 | c.259 others(409): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar |