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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDA1_chr19_17304563_17328298 | 17315114 | CACACACG others(79): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0024a0001c0001t0026 | a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0005g0020 others(19): Show |
39 | 388 | 0.1005 | -86 | c.136 others(101): Show |
DDA1 | ENSG00000130311.11 | transcript | ENST00000359866.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DDA1_chr19_17304563_17328298 | 17315123 | ATATATAC others(79): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0217 | 1 | 388 | 0.0026 | -86 | c.136 others(101): Show |
DDA1 | ENSG00000130311.11 | transcript | ENST00000359866.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132149008 | CCACACCC others(79): Show |
C | upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 | 1 | 334 | 0.0030 | -86 | c.-47 others(97): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4690 | chr12 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211726 | ATTTACTC others(79): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0039 | 1 | 148 | 0.0068 | -86 | c.212 others(107): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14212301 | TTTTACTC others(79): Show |
T | intron_variant | MODIFIER | HG02165.hp2 NA20300.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0018a0001c0004t0004 | a0001c0003t0018g0061 a0001c0004t0004g0118 |
2 | 148 | 0.0135 | -86 | c.212 others(107): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51776097 | TTCTACAG others(79): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0147 |
3 | 420 | 0.0071 | -86 | c.363 others(101): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2485771 | GGAAGGGA others(79): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031 | 1 | 50 | 0.0200 | -86 | c.109 others(105): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DHX37_chr12_124941826_124994131 | 124961187 | CGCACACA others(79): Show |
C | intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0071 | 1 | 370 | 0.0027 | -86 | c.204 others(103): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 15/26 | chr12 | TogoVar | |||||||
DICER1_chr14_95081228_95162529 | 95123678 | TTACAGGC others(79): Show |
T | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086 | 1 | 306 | 0.0033 | -86 | c.137 others(103): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 8/26 | chr14 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 445416 | ATATCTTG others(79): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0040 a0001c0003t0002g0054 |
2 | 88 | 0.0227 | -86 | c.269 others(103): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1101655 | GTCCTCGT others(79): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02818.hp2 HG02895.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0022a0001c0003t0001others(3): Show | a0001c0002t0001g0019 a0001c0002t0022g0034 a0001c0003t0001g0026 others(4): Show |
7 | 40 | 0.1750 | -86 | c.74- others(105): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1101767 | GACACGAC others(79): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01071.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0012others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(24): Show | a0001c0002t0001g0015 a0001c0002t0002g0021 a0001c0002t0006g0011 others(25): Show |
28 | 40 | 0.7000 | -86 | c.74- others(105): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 140897 | CTGGTGAG others(79): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0277 | 1 | 339 | 0.0030 | -86 | c.*64 others(97): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 1891 | chr17 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 403908 | ATATATAT others(79): Show |
A | intron_variant | MODIFIER | NA19030.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1 |
a0002a0004 | a0002c0113a0002c0115a0004c0019 | a0002c0113t0001a0002c0115t0001a0004c0019t0001 | a0002c0113t0001g0235 a0002c0115t0001g0037 a0004c0019t0001g0091 |
3 | 256 | 0.0117 | -86 | c.323 others(104): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565223 | ATGTCTGT others(79): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01975.hp1 HG01993.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0263 a0001c0001t0002g0275 a0001c0001t0002g0288 others(2): Show |
5 | 340 | 0.0147 | -86 | c.641 others(100): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565272 | GGGGTGAC others(79): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0032 a0001c0001t0002g0253 a0001c0001t0009g0254 |
3 | 340 | 0.0088 | -86 | c.641 others(101): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565418 | TGGATGAC others(79): Show |
T | intron_variant | MODIFIER | HG01175.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 a0001c0001t0002g0312 |
2 | 340 | 0.0059 | -86 | c.641 others(101): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565782 | TCTGTCTG others(79): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0019 a0001c0001t0002g0314 a0001c0001t0006g0315 |
4 | 340 | 0.0118 | -86 | c.641 others(101): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565804 | GGGGTGAC others(79): Show |
G | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 340 | 0.0029 | -86 | c.641 others(101): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565870 | TGTCTGTG others(79): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01978.hp2 HG02602.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0184 a0001c0001t0001g0215 a0001c0001t0002g0289 others(2): Show |
5 | 340 | 0.0147 | -86 | c.641 others(101): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565928 | TCTGTCTG others(79): Show |
T | intron_variant | MODIFIER | HG03704.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0141 |
2 | 340 | 0.0059 | -86 | c.641 others(101): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565950 | GGGGTGAC others(79): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG02015.hp1 NA18747.hp1 others(5): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0058 others(5): Show |
8 | 340 | 0.0235 | -86 | c.641 others(101): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565986 | TCTGTCTG others(79): Show |
T | intron_variant | MODIFIER | HG03453.hp1 NA19007.hp2 NA19065.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0002g0003 others(2): Show |
5 | 340 | 0.0147 | -86 | c.641 others(101): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566162 | TGTCTGTG others(79): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp1 HG01515.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0001g0068 others(3): Show |
6 | 340 | 0.0177 | -86 | c.641 others(103): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566220 | TCTGTCTG others(79): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp2 HG02602.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0119 a0001c0001t0001g0169 a0001c0001t0001g0184 others(1): Show |
4 | 340 | 0.0118 | -86 | c.641 others(103): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566242 | GGGGTGAC others(79): Show |
G | intron_variant | MODIFIER | HG02015.hp1 NA18962.hp1 NA18981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0132 others(2): Show |
5 | 340 | 0.0147 | -86 | c.641 others(103): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566308 | TGTCTGTG others(79): Show |
T | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 340 | 0.0029 | -86 | c.641 others(103): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567168 | TCTGTCTG others(79): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG02155.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0181 |
3 | 340 | 0.0088 | -86 | c.641 others(103): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567190 | GGGGTGAC others(79): Show |
G | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 340 | 0.0029 | -86 | c.641 others(103): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567220 | GGGGTGAC others(79): Show |
G | intron_variant | MODIFIER | HG04204.hp1 NA18953.hp1 NA18981.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0007a0004c0004t0001 | a0001c0001t0001g0029 a0001c0001t0001g0141 a0001c0001t0007g0232 others(2): Show |
5 | 340 | 0.0147 | -86 | c.641 others(103): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567256 | TGTCTGTG others(79): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 340 | 0.0029 | -86 | c.641 others(103): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567432 | TCTGTCTG others(79): Show |
T | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 340 | 0.0029 | -86 | c.641 others(103): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567462 | TCTGTCTG others(79): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 340 | 0.0029 | -86 | c.641 others(103): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97130751 | CCCTTCCT others(79): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0021 | 1 | 52 | 0.0192 | -86 | c.262 others(107): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 20/22 | chr1 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172030 | GGGGGCGG others(79): Show |
G | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0372 | 1 | 446 | 0.0022 | -86 | c.-46 others(97): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4546 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172053 | GGGGGCGT others(79): Show |
G | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0349 | 1 | 446 | 0.0022 | -86 | c.-46 others(97): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4569 | chr19 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196317394 | GTGTGTGT others(79): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 330 | 0.0030 | -86 | c.113 others(101): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196317398 | GTGTAAAG others(79): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0048 a0001c0001t0001g0051 others(1): Show |
7 | 330 | 0.0212 | -86 | c.113 others(101): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
ENDOD1_chr11_95084846_95137645 | 95114285 | TTTTTGTA others(79): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0184 a0001c0001t0004g0025 a0001c0001t0007g0017 others(2): Show |
7 | 368 | 0.0190 | -86 | c.301 others(105): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ENTPD6_chr20_25190712_25233075 | 25217904 | GCCTCCTC others(79): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01361.hp2 HG01891.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0024 a0001c0001t0003g0063 a0001c0001t0003g0103 others(5): Show |
11 | 380 | 0.0290 | -86 | c.878 others(101): Show |
ENTPD6 | ENSG00000197586.13 | transcript | ENST00000376652.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ENTPD6_chr20_25190712_25233075 | 25217951 | ACACATTA others(79): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 380 | 0.0026 | -86 | c.878 others(101): Show |
ENTPD6 | ENSG00000197586.13 | transcript | ENST00000376652.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EPHA2_chr1_16119337_16161069 | 16132694 | CAGGTGGG others(79): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0196 | 1 | 312 | 0.0032 | -86 | c.205 others(103): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 11/16 | chr1 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 714139 | CGCATCTC others(79): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 | 1 | 378 | 0.0027 | -86 | c.169 others(103): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 714182 | CGCATCTC others(79): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp1 others(119): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(114): Show |
122 | 378 | 0.3228 | -86 | c.169 others(103): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 714311 | GGCATCTC others(79): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 378 | 0.0027 | -86 | c.169 others(103): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 714354 | GGCATCTC others(79): Show |
G | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 378 | 0.0027 | -86 | c.169 others(103): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ESPNL_chr2_238095340_238138287 | 238137276 | GCTGGGCT others(79): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00741.hp1 others(41): Show |
a0005a0006a0008others(6): Show | a0005c0007a0005c0014a0005c0019others(15): Show | a0005c0007t0001a0005c0007t0008a0005c0014t0001others(18): Show | a0005c0007t0001g0020 a0005c0007t0001g0065 a0005c0007t0001g0074 others(36): Show |
44 | 408 | 0.1078 | -86 | c.*55 others(97): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 3990 | chr2 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128585064 | GAAAGAAA others(79): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01952.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003 | a0001c0001t0005g0213 a0001c0002t0003g0187 |
2 | 286 | 0.0070 | -86 | c.-15 others(103): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72401519 | ATATACAT others(79): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0024 | a0001c0002t0005g0102 a0001c0002t0024g0019 |
2 | 104 | 0.0192 | -86 | c.198 others(107): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803568 | TATATATA others(79): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG02602.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 a0001c0001t0002g0199 a0001c0001t0002g0200 others(4): Show |
7 | 312 | 0.0224 | -86 | c.13- others(103): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar |