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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KREMEN1_chr22_29068035_29151820 | 29120111 | T | TGGAGGAG others(2353): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0319 | 1 | 368 | 0.0027 | 2360 | c.353 others(2377): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120111 | T | TGGAGGAG others(2353): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0288 | 1 | 368 | 0.0027 | 2360 | c.353 others(2377): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120111 | T | TGGAGGAG others(2353): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0099 | 1 | 368 | 0.0027 | 2360 | c.353 others(2377): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120111 | T | TGGAGGAG others(2353): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00673.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0320 a0001c0001t0002g0342 a0001c0001t0004g0332 others(18): Show |
21 | 368 | 0.0571 | 2360 | c.353 others(2377): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120111 | T | TGGAGGAG others(2353): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0339 | 1 | 368 | 0.0027 | 2360 | c.353 others(2377): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2353): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0093 | 1 | 116 | 0.0086 | 2360 | c.522 others(2377): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2353): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03579.hp2 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0005a0002c0004t0021 | a0001c0003t0005g0056 a0002c0004t0021g0055 |
2 | 272 | 0.0074 | 2360 | c.-12 others(2381): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2353): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2360 | c.*44 others(2371): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2353): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 186 | 0.0054 | 2360 | c.-50 others(2371): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042996 | G | GGGGACTT others(2353): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 351 | 0.0029 | 2360 | c.-34 others(2371): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3428 | chr15 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2353): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0066 a0001c0001t0016g0286 |
2 | 320 | 0.0063 | 2360 | c.356 others(2375): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2353): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 320 | 0.0031 | 2360 | c.356 others(2375): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2353): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 320 | 0.0031 | 2360 | c.356 others(2375): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2353): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0116 | 1 | 320 | 0.0031 | 2360 | c.356 others(2375): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2354): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 316 | 0.0032 | 2361 | c.44- others(2374): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2354): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 301 | 0.0033 | 2361 | c.-11 others(2372): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 73006355 | T | TTAAAATG others(2354): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0009a0001c0001t0012others(5): Show | a0001c0001t0004g0034 a0001c0001t0009g0037 a0001c0001t0012g0068 others(5): Show |
8 | 80 | 0.1000 | 2361 | c.489 others(2378): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73006355 | T | TTAAAATG others(2354): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 80 | 0.0125 | 2361 | c.489 others(2378): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73006355 | T | TTAAAATG others(2354): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 80 | 0.0125 | 2361 | c.489 others(2378): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73006355 | T | TTAAAATG others(2354): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0024 | a0001c0001t0008g0018 a0001c0001t0024g0029 |
2 | 80 | 0.0250 | 2361 | c.489 others(2378): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73006355 | T | TTAAAATG others(2354): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0031 | a0001c0002t0003g0064 a0001c0002t0031g0057 |
2 | 80 | 0.0250 | 2361 | c.489 others(2378): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2354): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0006 | a0005c0006t0029 | a0005c0006t0029g0058 | 1 | 116 | 0.0086 | 2361 | c.522 others(2378): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(2354): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0163 | 1 | 214 | 0.0047 | 2361 | c.206 others(2380): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2354): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0115 | 1 | 214 | 0.0047 | 2361 | c.206 others(2380): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168594316 | G | GGGCATCT others(2354): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 a0001c0001t0001g0179 |
2 | 180 | 0.0111 | 2361 | c.638 others(2378): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2355): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 104 | 0.0096 | 2362 | c.354 others(2381): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(2355): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0132 | a0001c0132t0001 | a0001c0132t0001g0164 | 1 | 174 | 0.0058 | 2362 | c.193 others(2381): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2355): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0105 | 1 | 272 | 0.0037 | 2362 | c.-12 others(2383): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414446 | G | GGGAGGGG others(2355): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0015 | 1 | 373 | 0.0027 | 2362 | c.115 others(2379): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2355): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 320 | 0.0031 | 2362 | c.356 others(2377): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882383 | C | CGGGGAGA others(2356): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0011 | 1 | 288 | 0.0035 | 2363 | c.303 others(2382): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2356): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 104 | 0.0096 | 2363 | c.354 others(2382): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2356): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0108 | 1 | 282 | 0.0036 | 2363 | c.299 others(2378): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2356): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0043 | a0043c0094 | a0043c0094t0002 | a0043c0094t0002g0171 | 1 | 216 | 0.0046 | 2363 | c.801 others(2380): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2356): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 320 | 0.0031 | 2363 | c.356 others(2378): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82051399 | T | TACAACTA others(2357): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0069 | 1 | 144 | 0.0069 | 2364 | c.879 others(2381): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293479 | A | AGCTCACC others(2357): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18950.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0226 a0002c0005t0001g0232 |
2 | 284 | 0.0070 | 2364 | c.411 others(2381): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914604 | A | ACTCCCTC others(2357): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 294 | 0.0034 | 2364 | c.515 others(2381): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2357): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0073 | a0073c0087 | a0073c0087t0001 | a0073c0087t0001g0119 | 1 | 216 | 0.0046 | 2364 | c.801 others(2381): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2357): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0087 | 1 | 188 | 0.0053 | 2364 | c.147 others(2381): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9236599 | T | TAAAGAAT others(2357): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 34 | 0.0294 | 2364 | c.-20 others(2385): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 9/45 | chr9 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646058 | A | ACCACTTC others(2357): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 180 | 0.0056 | 2364 | c.-35 others(2385): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCTC others(2357): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0053 | 1 | 60 | 0.0167 | 2364 | c.299 others(2381): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2358): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 334 | 0.0030 | 2365 | c.147 others(2382): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(2358): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 398 | 0.0025 | 2365 | c.666 others(2380): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585576 | C | CACAGCCC others(2358): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065 | 1 | 236 | 0.0042 | 2365 | c.294 others(2382): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2358): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 316 | 0.0032 | 2365 | c.44- others(2378): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355593 | G | GAGAAGGA others(2358): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 | 1 | 82 | 0.0122 | 2365 | c.757 others(2380): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2358): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0016 | a0016c0021 | a0016c0021t0005 | a0016c0021t0005g0088 | 1 | 216 | 0.0046 | 2365 | c.801 others(2382): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2358): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0008 | a0008c0017 | a0008c0017t0005 | a0008c0017t0005g0094 | 1 | 216 | 0.0046 | 2365 | c.801 others(2382): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |