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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(908): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0011 | a0011c0026 | a0011c0026t0001 | a0011c0026t0001g0011 | 1 | 44 | 0.0227 | 915 | c.133 others(934): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(908): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0104 | 1 | 210 | 0.0048 | 915 | c.-5+ others(930): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(908): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 242 | 0.0041 | 915 | c.-5+ others(930): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775965 | C | CCATACCT others(908): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0019 | a0019c0023 | a0019c0023t0002 | a0019c0023t0002g0144 | 1 | 225 | 0.0044 | 915 | c.129 others(936): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775965 | C | CCATACCT others(908): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0098 | a0098c0131 | a0098c0131t0002 | a0098c0131t0002g0170 | 1 | 225 | 0.0044 | 915 | c.129 others(936): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777390 | C | CCTTACCT others(908): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01346.hp2 HG02145.hp2 |
a0038a0043a0058 | a0038c0161a0043c0103a0058c0162 | a0038c0161t0015a0043c0103t0004a0058c0162t0009 | a0038c0161t0015g0234 a0043c0103t0004g0238 a0058c0162t0009g0237 |
3 | 209 | 0.0144 | 915 | c.129 others(934): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741395 | G | GGGGGGCT others(908): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 282 | 0.0035 | 915 | c.143 others(930): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(908): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 67 | 0.0149 | 915 | c.306 others(934): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(908): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 67 | 0.0149 | 915 | c.306 others(934): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123797 | G | GTCATGGT others(908): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0205 | 1 | 163 | 0.0061 | 915 | c.335 others(934): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(908): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0043 | 1 | 7 | 0.1429 | 915 | c.27+ others(932): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(908): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0155 a0001c0001t0003g0156 |
2 | 254 | 0.0079 | 915 | c.66+ others(930): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(908): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0162 | 1 | 126 | 0.0079 | 915 | c.45- others(930): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(908): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0102 | 1 | 100 | 0.0100 | 915 | c.45- others(930): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(908): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 10 | 0.1000 | 915 | c.-48 others(926): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(908): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0062 | a0001c0062t0001 | a0001c0062t0001g0083 | 1 | 120 | 0.0083 | 915 | c.120 others(934): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(908): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01891.hp2 HG01978.hp2 others(12): Show |
a0001a0002a0014others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(9): Show | a0001c0001t0001g0024 a0001c0001t0001g0122 a0001c0002t0001g0124 others(12): Show |
15 | 134 | 0.1119 | 915 | c.120 others(934): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(908): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(8): Show |
a0001a0004a0005others(2): Show | a0001c0009a0001c0018a0001c0101others(5): Show | a0001c0009t0001a0001c0018t0001a0001c0101t0001others(5): Show | a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0009t0001g0201 others(8): Show |
11 | 130 | 0.0846 | 915 | c.120 others(934): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(908): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0019 | a0019c0083 | a0019c0083t0002 | a0019c0083t0002g0205 | 1 | 120 | 0.0083 | 915 | c.120 others(934): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(908): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01243.hp2 HG01943.hp2 others(12): Show |
a0001a0006a0009others(4): Show | a0001c0019a0001c0031a0001c0034others(10): Show | a0001c0019t0002a0001c0031t0001a0001c0034t0001others(10): Show | a0001c0019t0002g0217 a0001c0031t0001g0178 a0001c0034t0001g0177 others(12): Show |
15 | 134 | 0.1119 | 915 | c.120 others(934): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439968 | C | CGGCCAGC others(908): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0022 | 1 | 203 | 0.0049 | 915 | c.284 others(934): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098628 | T | TTCTAACC others(908): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0027 | 1 | 57 | 0.0175 | 915 | c.125 others(932): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(908): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18978.hp2 NA18991.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0024others(1): Show | a0001c0001t0005g0282 a0001c0001t0012g0311 a0001c0001t0024g0019 others(2): Show |
6 | 380 | 0.0158 | 915 | c.-35 others(932): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC5A8_chr12_101150493_101215238 | 101180717 | T | TAAAAAAA others(908): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 371 | 0.0027 | 915 | c.116 others(932): Show |
SLC5A8 | ENSG00000256870.3 | transcript | ENST00000536262.3 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(908): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 80 | 0.0125 | 915 | c.*64 others(926): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(908): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 31 | 0.0323 | 915 | c.638 others(930): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(908): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0059 | 1 | 8 | 0.1250 | 915 | c.657 others(930): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917309 | G | GGGCTTGG others(908): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0207 | 1 | 92 | 0.0109 | 915 | c.218 others(932): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344714 | G | GGTGTGTG others(909): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0069 | 1 | 94 | 0.0106 | 916 | c.62+ others(929): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(909): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0004 | 1 | 8 | 0.1250 | 916 | c.*69 others(927): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287088 | T | TACAATGT others(909): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 439 | 0.0023 | 916 | c.51+ others(931): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(909): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18952.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 3 | 350 | 0.0086 | 916 | c.51+ others(931): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287216 | T | TACTATGT others(909): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 329 | 0.0030 | 916 | c.51+ others(931): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49926713 | C | CCCCACCC others(909): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 | 1 | 54 | 0.0185 | 916 | c.101 others(933): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(909): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0027 | 1 | 85 | 0.0118 | 916 | c.646 others(931): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(909): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0089 | 1 | 97 | 0.0103 | 916 | c.923 others(935): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(909): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 144 | 0.0069 | 916 | c.*17 others(927): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(909): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01891.hp2 HG01934.hp1 others(5): Show |
a0001a0006a0028others(1): Show | a0001c0001a0001c0041a0001c0067others(3): Show | a0001c0001t0001a0001c0041t0001a0001c0067t0001others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0099 others(5): Show |
8 | 134 | 0.0597 | 916 | c.101 others(935): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(909): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0019 | a0003c0019t0002 | a0003c0019t0002g0093 | 1 | 127 | 0.0079 | 916 | c.101 others(935): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914737 | A | ATCTCTGT others(909): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 249 | 0.0040 | 916 | c.-13 others(933): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(909): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0054 | 1 | 10 | 0.1000 | 916 | c.310 others(931): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(909): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02148.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0186 |
3 | 12 | 0.2500 | 916 | c.310 others(931): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218308 | C | CCCCCAAC others(909): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014 | 1 | 80 | 0.0125 | 916 | c.*27 others(927): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1139 | chr8 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132774881 | A | AGAGGGAC others(909): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 159 | 0.0063 | 916 | c.978 others(933): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322672 | T | TTATATAT others(909): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0046 | 1 | 217 | 0.0046 | 916 | c.174 others(935): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(909): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 1 | 16 | 0.0625 | 916 | c.56- others(933): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(909): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0106 a0001c0001t0007g0055 |
2 | 17 | 0.1176 | 916 | c.56- others(933): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(909): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0061 | 1 | 16 | 0.0625 | 916 | c.56- others(933): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(909): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 16 | 0.0625 | 916 | c.56- others(933): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(909): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 214 | 0.0047 | 916 | c.153 others(935): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar |