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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RASA3_chr13_113972783_114137623 | 114044514 | C | CCACCCGC others(895): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 62 | 0.0161 | 902 | c.278 others(919): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7146991 | T | TTGAGATG others(895): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01192.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0003g0010 others(3): Show |
6 | 60 | 0.1000 | 902 | c.27+ others(919): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(895): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0034 | a0003c0003t0034g0061 | 1 | 7 | 0.1429 | 902 | c.27+ others(919): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(895): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00609.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0025 a0001c0001t0002g0005 a0001c0001t0003g0006 others(7): Show |
10 | 16 | 0.6250 | 902 | c.27+ others(919): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(895): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 21 | 0.0476 | 902 | c.127 others(921): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(895): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 193 | 0.0052 | 902 | c.165 others(919): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168654637 | C | CACCTGAG others(895): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0012 | a0004c0012t0010 | a0004c0012t0010g0076 | 1 | 178 | 0.0056 | 902 | c.128 others(921): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48384325 | G | GGAGGGAG others(895): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 283 | 0.0035 | 902 | c.909 others(917): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115846 | A | AGGGGCGA others(895): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0410 | 1 | 442 | 0.0023 | 902 | c.227 others(921): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1939626 | C | CACACACA others(895): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 8 | 0.1250 | 902 | c.*11 others(913): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 925 | chr11 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1939637 | A | ATAACATC others(895): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0004t0001g0087 others(1): Show |
6 | 124 | 0.0484 | 902 | c.*11 others(913): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 936 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870196 | A | ATACACAC others(895): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 121 | 0.0083 | 902 | c.*35 others(921): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ZFYVE9_chr1_52137089_52351634 | 52201797 | T | CTTTTGAG others(895): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 37 | 0.0270 | 902 | c.-14 others(923): Show |
ZFYVE9 | ENSG00000157077.16 | transcript | ENST00000287727.8 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(896): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 206 | 0.0049 | 903 | c.106 others(922): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(896): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02683.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0030a0001c0001t0089a0001c0007t0001others(1): Show | a0001c0001t0030g0000 a0001c0001t0089g0000 a0001c0007t0001g0000 others(1): Show |
5 | 14 | 0.3571 | 903 | c.*10 others(916): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251390 | A | AAGGAAGG others(896): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0109 | 1 | 240 | 0.0042 | 903 | c.927 others(920): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACATAC others(896): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 316 | 0.0032 | 903 | c.193 others(920): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133748 | T | CTCTCTCC others(896): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 108 | 0.0093 | 903 | c.-42 others(914): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 4014 | chr19 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(896): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0071 | 1 | 196 | 0.0051 | 903 | c.181 others(922): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3558743 | C | CCAATGAT others(896): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0002a0007 | a0002c0051a0007c0116 | a0002c0051t0007a0007c0116t0004 | a0002c0051t0007g0081 a0007c0116t0004g0039 |
2 | 124 | 0.0161 | 903 | c.134 others(924): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150250966 | A | ATCTCCCC others(896): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0020 | 1 | 29 | 0.0345 | 903 | c.207 others(922): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
EED_chr11_86239753_86283810 | 86272056 | A | ATTTTGTT others(896): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01884.hp2 HG02273.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0049 others(10): Show |
15 | 383 | 0.0392 | 903 | c.966 others(920): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272057 | T | TTTTTTTT others(896): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 256 | 0.0039 | 903 | c.966 others(920): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(896): Show |
intron_variant | MODIFIER | HG02027.hp1 NA19066.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0155 |
3 | 163 | 0.0184 | 903 | c.966 others(920): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551540 | G | GGAGGAGG others(896): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0040 | 1 | 2 | 0.5000 | 903 | c.-17 others(922): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(896): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0265 | 1 | 337 | 0.0030 | 903 | c.666 others(920): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GOLGA6D_chr15_75277835_75300530 | 75293159 | G | GCCACGGT others(896): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0025 | a0025c0038 | a0025c0038t0001 | a0025c0038t0001g0142 | 1 | 232 | 0.0043 | 903 | c.159 others(918): Show |
GOLGA6D | ENSG00000140478.17 | transcript | ENST00000434739.4 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(896): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0009 a0003c0008t0004g0010 a0003c0008t0004g0011 others(1): Show |
4 | 13 | 0.3077 | 903 | c.310 others(918): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(896): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 204 | 0.0049 | 903 | c.-36 others(914): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
KATNA1_chr6_149589873_149653714 | 149634275 | A | AAAAAAAA others(896): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 123 | 0.0081 | 903 | c.163 others(920): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(896): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 16 | 0.0625 | 903 | c.56- others(920): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(896): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 80 | 0.0125 | 903 | c.125 others(920): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(896): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 6 | 0.1667 | 903 | c.100 others(922): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432644 | G | GGAGGAGA others(896): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02109.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0058 a0001c0002t0004g0044 |
2 | 63 | 0.0317 | 903 | c.225 others(920): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432644 | G | GGAGGAGA others(896): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0237 | 1 | 62 | 0.0161 | 903 | c.225 others(920): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(896): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 6 | 0.1667 | 903 | c.-8+ others(916): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806307 | C | CCCTCCTC others(896): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0172 | 1 | 315 | 0.0032 | 903 | c.-29 others(914): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2885 | chr2 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(896): Show |
intron_variant | MODIFIER | HG02976.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 2 | 3 | 0.6667 | 903 | c.734 others(920): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(896): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0306 a0001c0001t0007g0307 |
2 | 3 | 0.6667 | 903 | c.734 others(920): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(896): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0234 | 1 | 2 | 0.5000 | 903 | c.734 others(920): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(896): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19011.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0236 a0001c0001t0001g0242 others(1): Show |
4 | 5 | 0.8000 | 903 | c.734 others(920): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(896): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 a0001c0001t0001g0272 |
2 | 3 | 0.6667 | 903 | c.734 others(920): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(896): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 2 | 0.5000 | 903 | c.734 others(920): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(896): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0168 | 1 | 2 | 0.5000 | 903 | c.734 others(920): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541225 | C | CCCCATTC others(896): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 348 | 0.0029 | 903 | c.734 others(920): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 204735049 | C | CAAGATTT others(896): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0009 | a0003c0009t0009 | a0003c0009t0009g0039 | 1 | 46 | 0.0217 | 903 | c.222 others(922): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(896): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0049 | 1 | 5 | 0.2000 | 903 | c.*15 others(914): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133748 | T | CTCTCTCC others(896): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 109 | 0.0092 | 903 | c.*23 others(914): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2035 | chr19 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(896): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02622.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0004 a0001c0001t0002g0035 a0001c0001t0002g0072 others(5): Show |
14 | 15 | 0.9333 | 903 | c.-28 others(914): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(896): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 2 | 0.5000 | 903 | c.-28 others(914): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar |