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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA2_chr15_60342151_60402986 | 60349993 | C | CAGGGGAA others(497): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 143 | 0.0070 | 504 | c.838 others(519): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350033 | G | GGAAGGCA others(497): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 332 | 0.0030 | 504 | c.838 others(519): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350047 | G | GAGGGGAA others(497): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 184 | 0.0054 | 504 | c.838 others(519): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350083 | G | GAGGGGAA others(497): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 248 | 0.0040 | 504 | c.838 others(519): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350119 | G | GAGGGGAA others(497): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 157 | 0.0064 | 504 | c.838 others(519): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350155 | C | CAGGGGAA others(497): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 85 | 0.0118 | 504 | c.838 others(519): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350155 | C | CAGGGGAA others(497): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 85 | 0.0118 | 504 | c.838 others(519): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350155 | C | CAGGGGAA others(497): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0034 | 1 | 85 | 0.0118 | 504 | c.838 others(519): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96340103 | A | AATATATG others(497): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0237 | 1 | 28 | 0.0357 | 504 | c.924 others(521): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(497): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0251 | 1 | 5 | 0.2000 | 504 | c.39+ others(521): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79309250 | C | CGGAGGAG others(497): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0098 | 1 | 164 | 0.0061 | 504 | c.177 others(523): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82972164 | C | CAGGGGCC others(497): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0248 | 1 | 172 | 0.0058 | 504 | c.460 others(521): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83035887 | G | GGTGGAGG others(497): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02280.hp1 HG02451.hp1 others(5): Show |
a0001a0003a0004 | a0001c0003a0003c0025a0004c0019 | a0001c0003t0014a0001c0003t0015a0001c0003t0020others(3): Show | a0001c0003t0014g0193 a0001c0003t0015g0194 a0001c0003t0015g0195 others(5): Show |
8 | 265 | 0.0302 | 504 | c.233 others(519): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 375167 | T | TGGAAGGG others(497): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 26 | 0.0385 | 504 | c.784 others(519): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675887 | T | TCCTGCCC others(497): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 396 | 0.0025 | 504 | c.910 others(519): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126672434 | G | GCAGGACT others(497): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00621.hp1 others(27): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0138 others(27): Show |
30 | 128 | 0.2344 | 504 | c.-19 others(515): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1742 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126672826 | C | CCAGGACT others(497): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 85 | 0.0118 | 504 | c.-23 others(515): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2134 | chr10 | TogoVar | |||||||
C1QTNF8_chr16_1083226_1101244 | 1092970 | C | CCAATCCC others(497): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0120 | 1 | 351 | 0.0028 | 504 | c.*4+ others(517): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
C2orf16_chr2_27532386_27587722 | 27539791 | G | GTCCTCAC others(497): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0170 | 1 | 214 | 0.0047 | 504 | c.144 others(521): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72209230 | T | TTCCTTCC others(497): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 121 | 0.0083 | 504 | c.244 others(523): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181959 | A | ACACACAC others(497): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0041 |
2 | 454 | 0.0044 | 504 | c.193 others(521): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544715 | A | ACGTCGTC others(497): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0043 | 1 | 376 | 0.0027 | 504 | c.-22 others(521): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544721 | C | CCTCCCCC others(497): Show |
intron_variant | MODIFIER | HG01167.hp2 HG04115.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0108 a0001c0006t0001g0116 |
2 | 292 | 0.0068 | 504 | c.-22 others(521): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC92_chr12_123930626_123977831 | 123945973 | C | CGCTGGCA others(497): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0054 | 1 | 88 | 0.0114 | 504 | c.-59 others(521): Show |
CCDC92 | ENSG00000119242.9 | transcript | ENST00000238156.8 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
CDH8_chr16_61642250_62041438 | 61960243 | G | GTGTGTAT others(497): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0043 | 1 | 143 | 0.0070 | 504 | c.253 others(523): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CDH8_chr16_61642250_62041438 | 61960243 | G | GTGTGTAT others(497): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0147 | 1 | 143 | 0.0070 | 504 | c.253 others(523): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CDH8_chr16_61642250_62041438 | 61960243 | G | GTGTGTAT others(497): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0064 | 1 | 143 | 0.0070 | 504 | c.253 others(523): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CDH8_chr16_61642250_62041438 | 61960243 | G | GTGTGTAT others(497): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 143 | 0.0070 | 504 | c.253 others(523): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3235518 | A | ATGGATTG others(497): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 128 | 0.0078 | 504 | c.259 others(523): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3235518 | A | ATGGATTG others(497): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01358.hp2 others(42): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0056 others(41): Show |
45 | 172 | 0.2616 | 504 | c.259 others(523): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35966189 | A | ACTAATAT others(497): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02615.hp1 others(3): Show |
a0009a0013a0015 | a0009c0007a0013c0049a0013c0052others(1): Show | a0009c0007t0001a0013c0049t0001a0013c0052t0002others(1): Show | a0009c0007t0001g0199 a0009c0007t0001g0200 a0009c0007t0001g0201 others(3): Show |
6 | 63 | 0.0952 | 504 | c.141 others(521): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35966203 | A | GATATTAG others(497): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0160 | 1 | 121 | 0.0083 | 504 | c.141 others(521): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | chrX | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647691 | G | GACCCAGT others(497): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0151 | 1 | 337 | 0.0030 | 504 | c.253 others(519): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647900 | A | AGACCCAG others(497): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 312 | 0.0032 | 504 | c.253 others(519): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647901 | C | CACCCAGC others(497): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 155 | 0.0065 | 504 | c.253 others(519): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648111 | G | GACCCAGT others(497): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 348 | 0.0029 | 504 | c.253 others(519): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648320 | A | ACACCCAG others(497): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 315 | 0.0032 | 504 | c.253 others(519): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648362 | A | ACACCCAG others(497): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 276 | 0.0036 | 504 | c.252 others(519): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648362 | A | ACACCCAG others(497): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 276 | 0.0036 | 504 | c.252 others(519): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648370 | C | CGCGGGGT others(497): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 279 | 0.0036 | 504 | c.252 others(519): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648421 | G | GGTGGAGA others(497): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 304 | 0.0033 | 504 | c.252 others(519): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648436 | G | GCCGACGT others(497): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 390 | 0.0026 | 504 | c.252 others(519): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHTF18_chr16_783620_803074 | 795580 | G | GCCCTTCT others(497): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0024 | a0024c0042 | a0024c0042t0001 | a0024c0042t0001g0235 | 1 | 246 | 0.0041 | 504 | c.217 others(521): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108575529 | C | CGTATATA others(497): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 213 | 0.0047 | 504 | c.894 others(519): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202393 | A | ACCCTCCT others(497): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 57 | 0.0175 | 504 | c.360 others(521): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(497): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0179 | 1 | 2 | 0.5000 | 504 | c.162 others(525): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58586397 | G | GGGGAGGG others(497): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0054 | 1 | 263 | 0.0038 | 504 | c.637 others(519): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(497): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0276 | 1 | 134 | 0.0075 | 504 | c.180 others(523): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385906 | T | TTACAGTG others(497): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG01167.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0010g0034 a0001c0002t0001g0152 a0001c0002t0002g0286 others(13): Show |
16 | 260 | 0.0615 | 504 | c.180 others(523): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385906 | T | TTACAGTG others(497): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01261.hp1 HG01975.hp2 others(15): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0232 a0001c0001t0003g0064 a0001c0001t0006g0083 others(15): Show |
18 | 262 | 0.0687 | 504 | c.180 others(523): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |