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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1715): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0106 | 1 | 92 | 0.0109 | 1722 | c.124 others(1741): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1715): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 92 | 0.0109 | 1722 | c.124 others(1741): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1715): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0274 | 1 | 92 | 0.0109 | 1722 | c.124 others(1741): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1715): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00738.hp1 others(60): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0019a0001c0001t0022others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(55): Show |
63 | 154 | 0.4091 | 1722 | c.124 others(1741): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1715): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0089 a0001c0001t0006g0090 |
2 | 93 | 0.0215 | 1722 | c.124 others(1741): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1715): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18955.hp2 NA18956.hp1 others(3): Show |
a0001a0008 | a0001c0002a0008c0007 | a0001c0002t0002a0001c0002t0003a0008c0007t0003 | a0001c0002t0002g0108 a0001c0002t0002g0154 a0001c0002t0002g0197 others(3): Show |
6 | 97 | 0.0619 | 1722 | c.124 others(1741): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1715): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0004 | a0003c0004t0023 | a0003c0004t0023g0348 | 1 | 92 | 0.0109 | 1722 | c.124 others(1741): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1715): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0031 | a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0001t0007g0316 others(1): Show |
4 | 95 | 0.0421 | 1722 | c.124 others(1741): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1715): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0083 | 1 | 92 | 0.0109 | 1722 | c.124 others(1741): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1715): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0020 | 1 | 121 | 0.0083 | 1722 | c.167 others(1737): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1715): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 121 | 0.0083 | 1722 | c.167 others(1737): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1715): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 121 | 0.0083 | 1722 | c.167 others(1737): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1716): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0132 | 1 | 236 | 0.0042 | 1723 | c.268 others(1742): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251127 | C | CCCCCAAC others(1716): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 101 | 0.0099 | 1723 | c.207 others(1742): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516740 | G | GTAGGGTG others(1716): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0016 | 1 | 12 | 0.0833 | 1723 | c.86- others(1740): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186170 | G | GGAGGAAC others(1716): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 265 | 0.0038 | 1723 | c.*50 others(1734): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4992 | chr16 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1716): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0300 | 1 | 210 | 0.0048 | 1723 | c.292 others(1742): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1716): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 210 | 0.0048 | 1723 | c.292 others(1742): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1716): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0170 | 1 | 31 | 0.0323 | 1723 | c.956 others(1740): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1716): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0172 |
2 | 225 | 0.0089 | 1723 | c.324 others(1740): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1716): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 224 | 0.0045 | 1723 | c.324 others(1740): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1716): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0201 a0001c0001t0005g0205 |
2 | 337 | 0.0059 | 1723 | c.-38 others(1734): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1716): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0004 | a0003c0004t0045 | a0003c0004t0045g0347 | 1 | 92 | 0.0109 | 1723 | c.124 others(1742): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1716): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0013 | a0001c0013t0024 | a0001c0013t0024g0016 | 1 | 92 | 0.0109 | 1723 | c.124 others(1742): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1716): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp2 HG03195.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0005others(1): Show | a0001c0001t0001g0256 a0001c0001t0001g0292 a0001c0001t0001g0304 others(6): Show |
9 | 100 | 0.0900 | 1723 | c.124 others(1742): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1716): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0143 | 1 | 92 | 0.0109 | 1723 | c.124 others(1742): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1716): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0320 | 1 | 92 | 0.0109 | 1723 | c.124 others(1742): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1716): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0222 | 1 | 126 | 0.0079 | 1723 | c.45- others(1738): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305094 | G | GGGGGACA others(1716): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 129 | 0.0078 | 1723 | c.351 others(1742): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(1717): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0006 | 1 | 299 | 0.0033 | 1724 | c.*36 others(1735): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1717): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0136 a0001c0001t0003g0135 a0001c0001t0003g0149 others(1): Show |
4 | 33 | 0.1212 | 1724 | c.445 others(1739): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1717): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0014 | a0014c0082 | a0014c0082t0002 | a0014c0082t0002g0085 | 1 | 236 | 0.0042 | 1724 | c.268 others(1743): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1717): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0212 | 1 | 224 | 0.0045 | 1724 | c.324 others(1741): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1717): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0207 | 1 | 336 | 0.0030 | 1724 | c.-38 others(1735): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1717): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00642.hp1 others(20): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0002a0001c0002t0003a0001c0002t0010others(1): Show | a0001c0002t0002g0116 a0001c0002t0002g0152 a0001c0002t0002g0153 others(20): Show |
23 | 114 | 0.2018 | 1724 | c.124 others(1743): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37166500 | C | CCCTCCCT others(1717): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 279 | 0.0036 | 1724 | c.*14 others(1735): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 1319 | chr2 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628706 | A | ATGAGGCG others(1717): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0337 | 1 | 120 | 0.0083 | 1724 | c.299 others(1741): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
WDR7_chr18_56646359_57034792 | 57024555 | G | GCTATGAT others(1717): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0103 | 1 | 113 | 0.0088 | 1724 | c.427 others(1743): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(1718): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0029 | 1 | 103 | 0.0097 | 1725 | c.300 others(1742): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1718): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0060 | a0001c0060t0001 | a0001c0060t0001g0142 | 1 | 236 | 0.0042 | 1725 | c.268 others(1744): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(1718): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0101 | 1 | 45 | 0.0222 | 1725 | c.724 others(1744): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAT others(1718): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 234 | 0.0043 | 1725 | c.215 others(1742): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1718): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 180 | 0.0056 | 1725 | c.*22 others(1736): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1718): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0007g0001 |
2 | 181 | 0.0110 | 1725 | c.*22 others(1736): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1718): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 1 | 180 | 0.0056 | 1725 | c.*22 others(1736): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1718): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0037 a0001c0001t0002g0038 |
6 | 185 | 0.0324 | 1725 | c.*22 others(1736): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1718): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01123.hp1 others(64): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(10): Show |
67 | 246 | 0.2724 | 1725 | c.*22 others(1736): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1718): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 181 | 0.0110 | 1725 | c.*22 others(1736): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1718): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297 | 1 | 210 | 0.0048 | 1725 | c.292 others(1744): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1718): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 210 | 0.0048 | 1725 | c.292 others(1744): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar |