regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2681): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 301 | 0.0033 | 2688 | c.-11 others(2699): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 961376 | C | CACAGACT others(2681): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 294 | 0.0034 | 2688 | c.194 others(2705): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2681): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0253 | 1 | 428 | 0.0023 | 2688 | c.283 others(2705): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2681): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp2 | a0102 | a0102c0122 | a0102c0122t0001 | a0102c0122t0001g0052 | 1 | 249 | 0.0040 | 2688 | c.381 others(2697): Show |
p.Ser others(2703): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2681): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0244 | 1 | 362 | 0.0028 | 2688 | c.192 others(2707): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2682): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 274 | 0.0037 | 2689 | c.179 others(2708): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HSD17B11_chr4_87331515_87396188 | 87384756 | T | TAAGATGT others(2682): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0028 | 1 | 390 | 0.0026 | 2689 | c.211 others(2706): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2682): Show |
frameshift_variant others(1): Show |
HIGH | HG01978.hp2 | a0171 | a0171c0111 | a0171c0111t0001 | a0171c0111t0001g0051 | 1 | 249 | 0.0040 | 2689 | c.381 others(2698): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
PCLO_chr7_82749012_83167884 | 82833922 | C | CTAAGTGA others(2682): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0009 | a0009c0031 | a0009c0031t0025 | a0009c0031t0025g0011 | 1 | 188 | 0.0053 | 2689 | c.142 others(2710): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 16/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82833922 | C | CTAAGTGA others(2682): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0012 | a0012c0009 | a0012c0009t0013 | a0012c0009t0013g0126 | 1 | 188 | 0.0053 | 2689 | c.142 others(2710): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 16/24 | chr7 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2682): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0013 | a0013c0024 | a0013c0024t0009 | a0013c0024t0009g0329 | 1 | 362 | 0.0028 | 2689 | c.192 others(2708): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024856 | G | GATTTCAC others(2682): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102 | 1 | 144 | 0.0069 | 2689 | c.427 others(2708): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2683): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0150 | 1 | 314 | 0.0032 | 2690 | c.173 others(2711): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174087491 | T | TCTATAAT others(2683): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0027 | 1 | 262 | 0.0038 | 2690 | c.729 others(2707): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397832 | A | AGGGGGGC others(2683): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0009 | a0009c0030 | a0009c0030t0027 | a0009c0030t0027g0069 | 1 | 340 | 0.0029 | 2690 | c.227 others(2707): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2683): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0340 | 1 | 362 | 0.0028 | 2690 | c.192 others(2709): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2683): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0106 | 1 | 362 | 0.0028 | 2690 | c.192 others(2709): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2683): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 362 | 0.0028 | 2690 | c.-18 others(2711): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
WDR70_chr5_37374318_37758435 | 37530649 | A | ATCTCCCA others(2683): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 242 | 0.0041 | 2690 | c.917 others(2709): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCAC others(2684): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0014 | 1 | 296 | 0.0034 | 2691 | c.*67 others(2702): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2684): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0151 | 1 | 314 | 0.0032 | 2691 | c.173 others(2712): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2684): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0036 | 1 | 66 | 0.0152 | 2691 | c.56- others(2704): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DSN1_chr20_36746795_36778763 | 36756696 | C | CAAGACTA others(2684): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0055a0002c0003t0004g0056 | 2 | 332 | 0.0060 | 2691 | c.726 others(2706): Show |
DSN1 | ENSG00000149636.16 | transcript | ENST00000373750.9 | protein_coding | 8/10 | chr20 | TogoVar | ||||||
DSN1_chr20_36746795_36778763 | 36756696 | C | CAAGACTA others(2684): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0054 | 1 | 332 | 0.0030 | 2691 | c.726 others(2706): Show |
DSN1 | ENSG00000149636.16 | transcript | ENST00000373750.9 | protein_coding | 8/10 | chr20 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458540 | C | CCACAGGG others(2684): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 295 | 0.0034 | 2691 | c.715 others(2708): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RNF216_chr7_5615047_5786663 | 5655735 | T | TAAAATGT others(2684): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0149a0001c0004t0007g0151 | 2 | 274 | 0.0073 | 2691 | c.206 others(2710): Show |
RNF216 | ENSG00000011275.19 | transcript | ENST00000389902.8 | protein_coding | 13/16 | chr7 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(2684): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0246 | 1 | 376 | 0.0027 | 2691 | c.101 others(2710): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432146 | A | ATAGGGTG others(2684): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0364 | 1 | 376 | 0.0027 | 2691 | c.101 others(2708): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2684): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0012 | a0001c0001t0002a0001c0001t0020a0003c0003t0002others(1): Show | a0001c0001t0002g0158a0001c0001t0002g0247a0001c0001t0020g0088others(3): Show | 6 | 362 | 0.0166 | 2691 | c.192 others(2710): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2684): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0090 | 1 | 250 | 0.0040 | 2691 | c.-22 others(2710): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2684): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0198 | 1 | 250 | 0.0040 | 2691 | c.-22 others(2710): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
VCX_chrX_7838171_7849143 | 7844261 | G | GGTGGTGT others(2684): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0035 | a0035c0035 | a0035c0035t0001 | a0035c0035t0001g0001 | 1 | 341 | 0.0029 | 2691 | c.*24 others(2700): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 119 | chrX | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2685): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 | 1 | 334 | 0.0030 | 2692 | c.147 others(2709): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25758346 | G | GATCACCT others(2685): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 300 | 0.0033 | 2692 | c.655 others(2711): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(2685): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0081 | 1 | 96 | 0.0104 | 2692 | c.-16 others(2713): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2685): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 346 | 0.0029 | 2692 | c.-17 others(2703): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | ||||||
IFT56_chr7_139128778_139196986 | 139140951 | C | CTTTTTTT others(2685): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 330 | 0.0030 | 2692 | c.349 others(2707): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2685): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0022 | 1 | 292 | 0.0034 | 2692 | c.218 others(2707): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
RNF216_chr7_5615047_5786663 | 5655735 | T | TAAAATGT others(2685): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0150 | 1 | 274 | 0.0037 | 2692 | c.206 others(2711): Show |
RNF216 | ENSG00000011275.19 | transcript | ENST00000389902.8 | protein_coding | 13/16 | chr7 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2685): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01361.hp2 HG01928.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0014a0003c0022 | a0001c0001t0002a0001c0001t0011a0001c0014t0002others(1): Show | a0001c0001t0002g0133a0001c0001t0002g0163a0001c0001t0002g0212others(6): Show | 9 | 362 | 0.0249 | 2692 | c.192 others(2711): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2685): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 2692 | c.*32 others(2703): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
ZNF678_chr1_227558556_227667461 | 227574492 | T | TCCTTTGC others(2685): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0076 | 1 | 394 | 0.0025 | 2692 | c.-16 others(2713): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37574985 | C | CTATACCA others(2686): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 354 | 0.0028 | 2693 | c.-22 others(2712): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CNOT3_chr19_54132762_54160681 | 54133778 | T | TCTCCACC others(2686): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 223 | 0.0045 | 2693 | c.-42 others(2704): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3983 | chr19 | TogoVar | ||||||
IFT56_chr7_139128778_139196986 | 139140951 | C | CTTTTTTT others(2686): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0051 | 1 | 330 | 0.0030 | 2693 | c.349 others(2708): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502044 | C | CCCCCCAC others(2686): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0077 | a0077c0076 | a0077c0076t0013 | a0077c0076t0013g0250 | 1 | 292 | 0.0034 | 2693 | c.218 others(2710): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2686): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0012 | a0003c0012t0111 | a0003c0012t0111g0098 | 1 | 250 | 0.0040 | 2693 | c.-22 others(2712): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88501132 | G | GGGCCCTC others(2686): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 318 | 0.0031 | 2693 | c.268 others(2712): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2687): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0037 | 1 | 66 | 0.0152 | 2694 | c.56- others(2707): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IFT56_chr7_139128778_139196986 | 139140951 | C | CTTTTTTT others(2687): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 330 | 0.0030 | 2694 | c.349 others(2709): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |