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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1060): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01257.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 4 | 122 | 0.0328 | 1067 | c.*51 others(1078): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1060): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 100 | 0.0100 | 1067 | c.-10 others(1084): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATATATTT others(1061): Show |
intron_variant | MODIFIER | NA19057.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0061 |
2 | 161 | 0.0124 | 1068 | c.130 others(1087): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(1061): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0002a0004 | a0002c0077a0004c0076 | a0002c0077t0007a0004c0076t0001 | a0002c0077t0007g0184 a0004c0076t0001g0185 |
2 | 41 | 0.0488 | 1068 | c.118 others(1087): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1061): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0192 | 1 | 152 | 0.0066 | 1068 | c.217 others(1087): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(1061): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0019 | a0019c0021 | a0019c0021t0001 | a0019c0021t0001g0025 | 1 | 165 | 0.0061 | 1068 | c.654 others(1087): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1061): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01993.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0062 others(3): Show |
6 | 15 | 0.4000 | 1068 | c.327 others(1085): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185865 | G | GGCGTAGG others(1061): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01257.hp1 HG01258.hp2 others(3): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0010a0007c0004others(2): Show | a0001c0001t0001a0002c0010t0005a0007c0004t0004others(2): Show | a0001c0001t0001g0207 a0002c0010t0005g0271 a0007c0004t0004g0175 others(2): Show |
6 | 216 | 0.0278 | 1068 | c.300 others(1085): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1186103 | G | GGCGTGCG others(1061): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01934.hp2 HG01943.hp1 |
a0001a0008 | a0001c0001a0008c0005 | a0001c0001t0009a0008c0005t0003a0008c0005t0008 | a0001c0001t0009g0215 a0008c0005t0003g0112 a0008c0005t0008g0273 |
3 | 332 | 0.0090 | 1068 | c.300 others(1085): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1061): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0105 | 1 | 8 | 0.1250 | 1068 | c.328 others(1085): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1061): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0159 | 1 | 8 | 0.1250 | 1068 | c.328 others(1085): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516740 | G | GTAGGGTG others(1061): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0078 | 1 | 12 | 0.0833 | 1068 | c.86- others(1085): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(1061): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0229 | 1 | 373 | 0.0027 | 1068 | c.332 others(1083): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89618921 | T | TCCCCTCC others(1061): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 216 | 0.0046 | 1068 | c.-10 others(1087): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1061): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 7 | 0.1429 | 1068 | c.*22 others(1079): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(1061): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0069 | 1 | 230 | 0.0043 | 1068 | c.190 others(1087): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(1061): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02922.hp2 others(1): Show |
a0001a0003 | a0001c0010a0001c0024a0003c0007 | a0001c0010t0001a0001c0010t0004a0001c0024t0010others(1): Show | a0001c0010t0001g0088 a0001c0010t0004g0005 a0001c0024t0010g0062 others(1): Show |
4 | 5 | 0.8000 | 1068 | c.928 others(1085): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1061): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0101 a0001c0001t0003g0095 |
2 | 256 | 0.0078 | 1068 | c.804 others(1085): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1061): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0043 |
2 | 256 | 0.0078 | 1068 | c.804 others(1085): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1061): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0111 |
2 | 256 | 0.0078 | 1068 | c.804 others(1085): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1061): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 | 1 | 255 | 0.0039 | 1068 | c.804 others(1085): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IFI44L_chr1_78615448_78651145 | 78634142 | T | TAGAAATC others(1061): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19057.hp2 NA19063.hp1 |
a0003 | a0003c0003 | a0003c0003t0025 | a0003c0003t0025g0025 | 3 | 427 | 0.0070 | 1068 | c.724 others(1085): Show |
IFI44L | ENSG00000137959.17 | transcript | ENST00000370751.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997264 | G | GCGGGGGA others(1061): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 a0001c0001t0001g0254 |
2 | 297 | 0.0067 | 1068 | c.-22 others(1079): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 406 | chr6 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953875 | A | ACACCCAC others(1061): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 154 | 0.0065 | 1068 | c.503 others(1083): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283422 | C | CACTTACT others(1061): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0207 | 1 | 240 | 0.0042 | 1068 | c.368 others(1085): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1061): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 71 | 0.0141 | 1068 | c.648 others(1087): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1061): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0106 | 1 | 71 | 0.0141 | 1068 | c.648 others(1087): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1061): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0064 | 1 | 71 | 0.0141 | 1068 | c.648 others(1087): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1061): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01175.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0039others(2): Show | a0001c0001t0001g0015 a0001c0001t0012g0074 a0001c0001t0039g0098 others(2): Show |
5 | 75 | 0.0667 | 1068 | c.648 others(1087): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1061): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0011 | a0001c0011t0088 | a0001c0011t0088g0091 | 1 | 71 | 0.0141 | 1068 | c.648 others(1087): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1996281 | C | CTACACAC others(1061): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 225 | 0.0044 | 1068 | c.141 others(1087): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1996281 | C | CTACACAC others(1061): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 225 | 0.0044 | 1068 | c.141 others(1087): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175132476 | C | CGGGGGGC others(1061): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 |
a0002a0003 | a0002c0007a0003c0004 | a0002c0007t0021a0003c0004t0029 | a0002c0007t0021g0049 a0003c0004t0029g0022 |
2 | 57 | 0.0351 | 1068 | c.545 others(1087): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(1061): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02723.hp2 others(1): Show |
a0001a0002a0007others(1): Show | a0001c0082a0002c0121a0007c0004others(1): Show | a0001c0082t0057a0002c0121t0028a0007c0004t0001others(1): Show | a0001c0082t0057g0165 a0002c0121t0028g0117 a0007c0004t0001g0116 others(1): Show |
4 | 39 | 0.1026 | 1068 | c.816 others(1085): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977906 | A | AAGAGAGG others(1061): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 206 | 0.0049 | 1068 | c.279 others(1083): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 116 | 0.0086 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0279 | 1 | 116 | 0.0086 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 116 | 0.0086 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 116 | 0.0086 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(101): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0181 a0001c0001t0001g0257 a0001c0001t0002g0077 others(101): Show |
104 | 219 | 0.4749 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG01074.hp1 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0153 a0001c0002t0003g0247 |
2 | 117 | 0.0171 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811271 | T | TTCCTTCC others(1061): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0121 | 1 | 149 | 0.0067 | 1068 | c.773 others(1083): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1061): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0017 | a0017c0019 | a0017c0019t0001 | a0017c0019t0001g0012 | 1 | 24 | 0.0417 | 1068 | c.371 others(1085): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131917916 | G | GTGTAGGG others(1061): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 389 | 0.0026 | 1068 | c.101 others(1087): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1061): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 236 | 0.0042 | 1068 | c.139 others(1085): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1061): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 110 | 0.0091 | 1068 | c.-31 others(1085): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646430 | T | TCCACCTC others(1061): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0061 | 1 | 90 | 0.0111 | 1068 | c.-35 others(1089): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1061): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0318 | 1 | 100 | 0.0100 | 1068 | c.45- others(1083): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGCCATC others(1061): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 98 | 0.0102 | 1068 | c.228 others(1087): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1061): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 50 | 0.0200 | 1068 | c.*24 others(1079): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar |