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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(1095): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0248 | 1 | 373 | 0.0027 | 1102 | c.115 others(1119): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCG others(1095): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0059 | 1 | 373 | 0.0027 | 1102 | c.115 others(1119): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(1095): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 373 | 0.0027 | 1102 | c.115 others(1119): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55500919 | A | ATATTATA others(1095): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0150 | 1 | 340 | 0.0029 | 1102 | c.*17 others(1121): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1095): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0022 | 1 | 186 | 0.0054 | 1102 | c.-50 others(1113): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(1095): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 302 | 0.0033 | 1102 | c.12+ others(1117): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1096): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 318 | 0.0031 | 1103 | c.225 others(1120): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1096): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp2 others(55): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0004a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0028 others(55): Show |
58 | 318 | 0.1824 | 1103 | c.225 others(1120): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1096): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19063.hp2 NA19064.hp1 |
a0001a0010 | a0001c0001a0010c0034 | a0001c0001t0001a0010c0034t0001 | a0001c0001t0001g0154 a0001c0001t0001g0155 a0010c0034t0001g0153 |
3 | 318 | 0.0094 | 1103 | c.225 others(1120): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1096): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0009a0002c0005 | a0001c0009t0009a0002c0005t0004a0002c0005t0064 | a0001c0009t0009g0246 a0002c0005t0004g0012 a0002c0005t0004g0213 others(3): Show |
6 | 318 | 0.0189 | 1103 | c.225 others(1120): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1096): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 318 | 0.0031 | 1103 | c.225 others(1120): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344866 | G | GTGTGCGC others(1096): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19043.hp2 |
a0008a0015 | a0008c0007a0015c0019 | a0008c0007t0035a0015c0019t0022 | a0008c0007t0035g0222 a0015c0019t0022g0243 |
2 | 268 | 0.0075 | 1103 | c.62+ others(1116): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1096): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 242 | 0.0041 | 1103 | c.927 others(1120): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(1096): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 246 | 0.0041 | 1103 | c.298 others(1120): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(1096): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 246 | 0.0041 | 1103 | c.-18 others(1114): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74765074 | C | CTGCCTTT others(1096): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02970.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0003a0003c0003t0006 | a0001c0001t0002g0197 a0001c0001t0002g0198 a0003c0003t0003g0199 others(4): Show |
7 | 360 | 0.0194 | 1103 | c.163 others(1120): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74765074 | C | CTGCCTTT others(1096): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00738.hp1 others(48): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0110 a0002c0002t0001g0009 a0002c0002t0001g0042 others(43): Show |
51 | 360 | 0.1417 | 1103 | c.163 others(1120): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74765074 | C | CTGCCTTT others(1096): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0038 | 1 | 360 | 0.0028 | 1103 | c.163 others(1120): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74765074 | C | CTGCCTTT others(1096): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG01257.hp1 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(9): Show | a0001c0001t0001g0024 a0001c0001t0001g0109 a0001c0001t0002g0206 others(22): Show |
27 | 360 | 0.0750 | 1103 | c.163 others(1120): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74765074 | C | CTGCCTTT others(1096): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 360 | 0.0028 | 1103 | c.163 others(1120): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74765074 | C | CTGCCTTT others(1096): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19043.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0007a0004c0004t0017 | a0002c0002t0007g0041 a0004c0004t0017g0040 |
2 | 360 | 0.0056 | 1103 | c.163 others(1120): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74765074 | C | CTGCCTTT others(1096): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0097 | 1 | 360 | 0.0028 | 1103 | c.163 others(1120): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(1096): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 NA18979.hp1 NA19065.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 |
4 | 398 | 0.0101 | 1103 | c.-22 others(1114): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1096): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0175 | 1 | 376 | 0.0027 | 1103 | c.63+ others(1116): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1096): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0171 | 1 | 278 | 0.0036 | 1103 | c.328 others(1120): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1096): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0018 | a0018c0007 | a0018c0007t0001 | a0018c0007t0001g0061 a0018c0007t0001g0062 |
2 | 252 | 0.0079 | 1103 | c.118 others(1122): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1096): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0346 | 1 | 418 | 0.0024 | 1103 | c.119 others(1122): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551557 | G | GAGGAGGG others(1096): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 46 | 0.0217 | 1103 | c.-17 others(1122): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(1096): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 275 | 0.0036 | 1103 | c.278 others(1122): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(1096): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 | 1 | 275 | 0.0036 | 1103 | c.278 others(1122): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GET4_chr7_871554_901436 | 890415 | C | CGGGGTCT others(1096): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0159 | 1 | 384 | 0.0026 | 1103 | c.467 others(1118): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294616 | C | CCACCCAC others(1096): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01255.hp2 HG01258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(4): Show |
10 | 388 | 0.0258 | 1103 | c.105 others(1120): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294620 | C | CCACCCAC others(1096): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp2 others(27): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0040 a0001c0001t0001g0073 a0001c0001t0001g0104 others(25): Show |
30 | 388 | 0.0773 | 1103 | c.105 others(1120): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294620 | C | CCATCCAC others(1096): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0242 | 1 | 388 | 0.0026 | 1103 | c.105 others(1120): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294624 | C | CCACCCAC others(1096): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0232 |
2 | 388 | 0.0052 | 1103 | c.105 others(1120): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294624 | C | CCACCCAC others(1096): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01071.hp2 HG01099.hp2 others(44): Show |
a0001a0014a0016 | a0001c0001a0014c0007a0016c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0023 others(41): Show |
47 | 388 | 0.1211 | 1103 | c.105 others(1120): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294624 | C | CCACCCAC others(1096): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 388 | 0.0026 | 1103 | c.105 others(1120): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294624 | C | CCACCCAC others(1096): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 388 | 0.0026 | 1103 | c.105 others(1120): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294624 | C | CCACCCAC others(1096): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 388 | 0.0026 | 1103 | c.105 others(1120): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAGA others(1096): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0028 | 1 | 308 | 0.0033 | 1103 | c.127 others(1122): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739182 | T | TCATCCAC others(1096): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 380 | 0.0026 | 1103 | c.507 others(1120): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(1096): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 NA18979.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 398 | 0.0075 | 1103 | c.-42 others(1114): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186085 | G | GGGAACAG others(1096): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 350 | 0.0029 | 1103 | c.*31 others(1114): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2904 | chr16 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1096): Show |
downstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0002 | 1 | 436 | 0.0023 | 1103 | c.*56 others(1114): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1096): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 208 | 0.0048 | 1103 | c.279 others(1118): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1096): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0049 | 1 | 308 | 0.0033 | 1103 | c.371 others(1120): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1096): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 322 | 0.0031 | 1103 | c.*48 others(1114): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50433636 | T | TCTGGAGG others(1096): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0122 | 1 | 340 | 0.0029 | 1103 | c.140 others(1122): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1096): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01261.hp2 HG01496.hp1 others(19): Show |
a0001a0002a0003others(11): Show | a0001c0015a0001c0037a0001c0083others(16): Show | a0001c0015t0001a0001c0037t0003a0001c0083t0001others(17): Show | a0001c0015t0001g0077 a0001c0015t0001g0118 a0001c0037t0003g0089 others(19): Show |
22 | 154 | 0.1429 | 1103 | c.108 others(1120): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930619 | C | CTGGGGTT others(1096): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 466 | 0.0022 | 1103 | c.*49 others(1114): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4750 | chr11 | TogoVar |