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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(941): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 219 | 0.0046 | 948 | c.*73 others(959): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(941): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 28 | 0.0357 | 948 | c.113 others(967): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82764853 | C | CTGTGTGC others(941): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0239 | 1 | 173 | 0.0058 | 948 | c.333 others(963): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(941): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0335 | 1 | 241 | 0.0041 | 948 | c.728 others(965): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507419 | A | CTGTATAT others(941): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0272 | 1 | 385 | 0.0026 | 948 | c.-23 others(965): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(941): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02135.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 52 | 0.0577 | 948 | c.*24 others(959): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(941): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 50 | 0.0200 | 948 | c.*24 others(959): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(941): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0232 | 1 | 146 | 0.0068 | 948 | c.114 others(965): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(941): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0007 | 1 | 2 | 0.5000 | 948 | c.*53 others(959): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(942): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 | 1 | 12 | 0.0833 | 949 | c.387 others(968): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(942): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0168 | 1 | 159 | 0.0063 | 949 | c.505 others(968): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(942): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 30 | 0.0333 | 949 | c.505 others(968): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(942): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 | 1 | 30 | 0.0333 | 949 | c.505 others(968): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(942): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0015 | a0003c0015t0014 | a0003c0015t0014g0102 | 1 | 7 | 0.1429 | 949 | c.775 others(964): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(942): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0063 | 1 | 97 | 0.0103 | 949 | c.245 others(966): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(942): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18980.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0064 a0002c0002t0003g0077 |
2 | 95 | 0.0211 | 949 | c.907 others(964): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(942): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0008 | a0001c0001t0013g0056 a0001c0003t0008g0032 |
2 | 6 | 0.3333 | 949 | c.234 others(970): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803167 | C | CCTCTTGG others(942): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 394 | 0.0025 | 949 | c.666 others(964): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(942): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0024 | 1 | 211 | 0.0047 | 949 | c.342 others(970): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(942): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0010 | a0010c0023 | a0010c0023t0001 | a0010c0023t0001g0272 | 1 | 64 | 0.0156 | 949 | c.179 others(968): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(942): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01934.hp1 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(2): Show |
5 | 68 | 0.0735 | 949 | c.179 others(968): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240625974 | T | TGGGGGTC others(942): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 369 | 0.0027 | 949 | c.-5+ others(962): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240625974 | T | TGGGGGTC others(942): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 369 | 0.0027 | 949 | c.-5+ others(962): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(942): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 132 | 0.0076 | 949 | c.94- others(962): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(942): Show |
intron_variant | MODIFIER | NA19004.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0223 |
2 | 133 | 0.0150 | 949 | c.94- others(962): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(942): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 132 | 0.0076 | 949 | c.94- others(962): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173157 | T | TCCCCCTC others(942): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0014 | a0004c0014t0012 | a0004c0014t0012g0149 | 1 | 151 | 0.0066 | 949 | c.*11 others(970): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45228775 | C | CCCCCAAC others(942): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0285 | 1 | 341 | 0.0029 | 949 | c.64+ others(966): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCCCT others(942): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 125 | 0.0080 | 949 | c.-49 others(960): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(942): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0003 | a0003c0003 | a0003c0003t0019 | a0003c0003t0019g0081 | 1 | 213 | 0.0047 | 949 | c.250 others(964): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(942): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02572.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0129 a0003c0003t0001g0132 |
2 | 45 | 0.0444 | 949 | c.133 others(968): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(942): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 44 | 0.0227 | 949 | c.133 others(968): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2035787 | G | AGGTGCAG others(942): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0056 | 1 | 102 | 0.0098 | 949 | c.-15 others(970): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977896 | G | GGGAAGGA others(942): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 206 | 0.0049 | 949 | c.279 others(964): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
OR6K6_chr1_158749720_158760891 | 158756067 | C | CAACTCTC others(942): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02818.hp2 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 6 | 439 | 0.0137 | 949 | c.*22 others(958): Show |
OR6K6 | ENSG00000180433.6 | transcript | ENST00000641861.1 | protein_coding | 177 | chr1 | TogoVar | |||||||
OR6K6_chr1_158749720_158760891 | 158756067 | C | CAACTCTC others(942): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG02922.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0000 | 4 | 437 | 0.0092 | 949 | c.*22 others(958): Show |
OR6K6 | ENSG00000180433.6 | transcript | ENST00000641861.1 | protein_coding | 177 | chr1 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 273 | 0.0037 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0011 | a0011c0017 | a0011c0017t0001 | a0011c0017t0001g0007 | 1 | 273 | 0.0037 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0353 | 1 | 273 | 0.0037 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0352 | 1 | 273 | 0.0037 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 273 | 0.0037 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01123.hp2 others(43): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0060 others(43): Show |
46 | 318 | 0.1447 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 273 | 0.0037 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
a0001a0004a0010 | a0001c0001a0004c0006a0010c0018 | a0001c0001t0001a0001c0001t0002a0004c0006t0001others(1): Show | a0001c0001t0001g0306 a0001c0001t0001g0349 a0001c0001t0001g0350 others(3): Show |
6 | 278 | 0.0216 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | NA18977.hp1 NA18984.hp1 |
a0002a0006 | a0002c0003a0006c0009 | a0002c0003t0001a0006c0009t0001 | a0002c0003t0001g0304 a0006c0009t0001g0305 |
2 | 274 | 0.0073 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8856958 | T | TTTAAAAT others(942): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01109.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(17): Show |
20 | 292 | 0.0685 | 949 | c.-91 others(966): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(942): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0165 | 1 | 24 | 0.0417 | 949 | c.371 others(966): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(942): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0018 | a0018c0018 | a0018c0018t0001 | a0018c0018t0001g0284 | 1 | 24 | 0.0417 | 949 | c.371 others(966): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50344838 | T | TCCCCCCC others(942): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0017 | a0017c0024 | a0017c0024t0007 | a0017c0024t0007g0031 | 1 | 325 | 0.0031 | 949 | c.-14 others(968): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803167 | C | CCTCTTGG others(942): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 326 | 0.0031 | 949 | c.-50 others(960): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4780 | chr9 | TogoVar |