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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2317): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 2 | 0.5000 | 2324 | c.801 others(2341): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2317): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0034 | 1 | 82 | 0.0122 | 2324 | c.147 others(2341): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | NA19058.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 222 | 0.0090 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG01978.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000 a0001c0001t0006g0000 |
20 | 240 | 0.0833 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2318): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0026 | a0003c0026t0001 | a0003c0026t0001g0070 | 1 | 50 | 0.0200 | 2325 | c.147 others(2342): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112862997 | A | ATGCAGCT others(2318): Show |
intron_variant | MODIFIER | HG03831.hp2 HG04228.hp2 |
a0001a0005 | a0001c0004a0005c0032 | a0001c0004t0001a0005c0032t0001 | a0001c0004t0001g0224 a0005c0032t0001g0234 |
2 | 249 | 0.0080 | 2325 | c.299 others(2344): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02922.hp1 |
a0002a0026 | a0002c0016a0026c0063 | a0002c0016t0003a0026c0063t0001 | a0002c0016t0003g0025 a0026c0063t0001g0098 |
2 | 14 | 0.1429 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0042 | 1 | 13 | 0.0769 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0021 | a0021c0036 | a0021c0036t0006 | a0021c0036t0006g0002 | 1 | 13 | 0.0769 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0032 | 1 | 13 | 0.0769 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0043 | a0043c0042 | a0043c0042t0001 | a0043c0042t0001g0052 | 1 | 13 | 0.0769 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251277 | C | CCACACAT others(2318): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 68 | 0.0147 | 2325 | c.207 others(2344): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2318): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0201 | 1 | 192 | 0.0052 | 2325 | c.131 others(2344): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(2318): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0008 | a0008c0094 | a0008c0094t0001 | a0008c0094t0001g0119 | 1 | 145 | 0.0069 | 2325 | c.193 others(2344): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(2318): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0092 | 1 | 62 | 0.0161 | 2325 | c.-21 others(2336): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2318): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0208 | 1 | 2 | 0.5000 | 2325 | c.801 others(2342): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2319): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 194 | 0.0052 | 2326 | c.573 others(2343): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2319): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0024 | a0024c0054 | a0024c0054t0001 | a0024c0054t0001g0091 | 1 | 13 | 0.0769 | 2326 | c.354 others(2345): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2319): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0020 | a0020c0010 | a0020c0010t0001 | a0020c0010t0001g0007 | 1 | 13 | 0.0769 | 2326 | c.354 others(2345): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2319): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 13 | 0.0769 | 2326 | c.354 others(2345): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647427 | A | ACACCCCT others(2319): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0013 | a0003c0013t0004 | a0003c0013t0004g0014 | 1 | 208 | 0.0048 | 2326 | c.*52 others(2337): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2083 | chr15 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2319): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0258 | 1 | 318 | 0.0031 | 2326 | c.-50 others(2337): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2319): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0083 | a0083c0046 | a0083c0046t0001 | a0083c0046t0001g0090 | 1 | 31 | 0.0323 | 2326 | c.956 others(2343): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2319): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 4 | 0.2500 | 2326 | c.522 others(2343): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2319): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0047 | 1 | 4 | 0.2500 | 2326 | c.522 others(2343): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2319): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0115 | 1 | 4 | 0.2500 | 2326 | c.522 others(2343): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150365 | C | CACCACAC others(2319): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 241 | 0.0041 | 2326 | c.902 others(2341): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2319): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0035 | a0035c0039 | a0035c0039t0001 | a0035c0039t0001g0183 | 1 | 2 | 0.5000 | 2326 | c.801 others(2343): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2319): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0096 | a0002c0096t0001 | a0002c0096t0001g0119 | 1 | 2 | 0.5000 | 2326 | c.801 others(2343): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2319): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0003 | 1 | 352 | 0.0028 | 2326 | c.*32 others(2337): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042996 | G | GGGGACTT others(2319): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 327 | 0.0031 | 2326 | c.-34 others(2337): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3428 | chr15 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2319): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0091 |
2 | 147 | 0.0136 | 2326 | c.114 others(2343): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2320): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0088 | 1 | 13 | 0.0769 | 2327 | c.354 others(2346): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469984 | A | AGGGGAGG others(2320): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0070 | 1 | 99 | 0.0101 | 2327 | c.354 others(2346): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(2320): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 4 | 0.2500 | 2327 | c.347 others(2348): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(2320): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0009 | a0001c0009t0019 | a0001c0009t0019g0027 | 1 | 4 | 0.2500 | 2327 | c.347 others(2348): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2320): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 61 | 0.0164 | 2327 | c.-11 others(2338): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868121 | T | TGTAATGT others(2320): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 295 | 0.0034 | 2327 | c.-11 others(2338): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 826 | chr11 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811273 | C | CCTTCCTT others(2320): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0161 | 1 | 166 | 0.0060 | 2327 | c.773 others(2342): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2320): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0004 | a0004c0002 | a0004c0002t0023 | a0004c0002t0023g0028 | 1 | 2 | 0.5000 | 2327 | c.801 others(2344): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2320): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01993.hp2 |
a0001a0032 | a0001c0027a0032c0116 | a0001c0027t0003a0032c0116t0003 | a0001c0027t0003g0107 a0032c0116t0003g0127 |
2 | 3 | 0.6667 | 2327 | c.801 others(2344): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PLEC_chr8_143910153_143978529 | 143967352 | G | GACTCCAT others(2320): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 300 | 0.0033 | 2327 | c.70+ others(2342): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 1/31 | chr8 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2320): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2327 | c.*44 others(2338): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2320): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 146 | 0.0068 | 2327 | c.114 others(2344): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(2321): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0036 | a0036c0045 | a0036c0045t0004 | a0036c0045t0004g0273 | 1 | 42 | 0.0238 | 2328 | c.179 others(2343): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2321): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0046 | a0046c0116 | a0046c0116t0001 | a0046c0116t0001g0079 | 1 | 8 | 0.1250 | 2328 | c.723 others(2345): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar |