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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP1_chr18_3491032_4460307 | 4049912 | G | GTCCATCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02135.hp2 HG02280.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0007others(1): Show | a0001c0001t0002a0001c0005t0001a0002c0007t0016others(1): Show | a0001c0001t0002g0008 a0001c0005t0001g0052 a0002c0007t0016g0066 others(1): Show |
4 | 80 | 0.0500 | 8 | c.-15 others(29): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4059713 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG01496.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0030others(3): Show | a0001c0001t0001g0003 a0001c0001t0004g0019 a0001c0002t0030g0014 others(3): Show |
6 | 80 | 0.0750 | 8 | c.-15 others(29): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4115477 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01981.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0023 others(30): Show |
33 | 80 | 0.4125 | 8 | c.-15 others(29): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4118642 | G | GGCTGGGG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01106.hp2 others(67): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(67): Show |
70 | 80 | 0.8750 | 8 | c.-15 others(29): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4257973 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0068 a0001c0001t0007g0028 |
2 | 80 | 0.0250 | 8 | c.-26 others(31): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4265103 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0001t0022a0001c0001t0042others(1): Show | a0001c0001t0012g0054 a0001c0001t0022g0043 a0001c0001t0042g0080 others(1): Show |
4 | 80 | 0.0500 | 8 | c.-26 others(31): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4265624 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02257.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0004g0016 a0001c0001t0005g0042 a0001c0001t0012g0053 others(3): Show |
6 | 80 | 0.0750 | 8 | c.-26 others(31): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4306033 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0015 | a0001c0001t0006g0002 a0001c0004t0015g0062 |
2 | 80 | 0.0250 | 8 | c.-26 others(31): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4416394 | A | AAATTTTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(47): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0044 a0001c0001t0002g0047 a0001c0001t0003g0059 others(47): Show |
50 | 80 | 0.6250 | 8 | c.-26 others(29): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4430502 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02451.hp2 HG03471.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0042others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0017 others(5): Show |
8 | 80 | 0.1000 | 8 | c.-26 others(29): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 856186 | T | TTCTTCTT others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02074.hp2 HG03492.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0009a0002c0001t0001a0002c0001t0007 | a0001c0002t0009g0039 a0002c0001t0001g0018 a0002c0001t0007g0038 |
3 | 40 | 0.0750 | 8 | c.19- others(25): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 946073 | C | CCCCATTT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02647.hp2 HG02895.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0004others(1): Show | a0001c0003t0001a0002c0001t0002a0002c0004t0003others(1): Show | a0001c0003t0001g0026 a0002c0001t0002g0013 a0002c0004t0003g0009 others(1): Show |
4 | 40 | 0.1000 | 8 | c.73+ others(25): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1023857 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 HG03486.hp1 |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0027a0001c0003t0017a0002c0001t0005 | a0001c0002t0027g0023 a0001c0003t0017g0004 a0002c0001t0005g0035 |
3 | 40 | 0.0750 | 8 | c.73+ others(27): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1202296 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 HG03516.hp2 |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0005 | a0001c0002t0001g0015 a0001c0003t0001g0026 a0002c0001t0005g0028 |
3 | 40 | 0.0750 | 8 | c.74- others(25): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1267603 | T | TAAAATAA others(1): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02698.hp1 HG02698.hp2 |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0009a0002c0001t0003a0002c0004t0018 | a0001c0002t0009g0039 a0002c0001t0003g0017 a0002c0004t0018g0010 |
3 | 40 | 0.0750 | 8 | c.106 others(25): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1287157 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03492.hp1 |
a0002 | a0002c0001 | a0002c0001t0007a0002c0001t0011 | a0002c0001t0007g0038 a0002c0001t0011g0001 |
2 | 40 | 0.0500 | 8 | c.106 others(27): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1381782 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02698.hp2 NA20300.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0013a0002c0004t0018 | a0001c0003t0013g0007 a0002c0004t0018g0010 |
2 | 40 | 0.0500 | 8 | c.107 others(29): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1457975 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02647.hp2 others(4): Show |
a0002a0004 | a0002c0001a0002c0004a0002c0007others(1): Show | a0002c0001t0002a0002c0001t0003a0002c0001t0007others(4): Show | a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0007g0038 others(4): Show |
7 | 40 | 0.1750 | 8 | c.107 others(27): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1531241 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02647.hp2 HG02818.hp1 others(4): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0022a0001c0002t0027others(4): Show | a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0002t0027g0023 others(4): Show |
7 | 40 | 0.1750 | 8 | c.173 others(27): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1601945 | G | GATGTGTG others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02074.hp1 |
a0002 | a0002c0001a0002c0004 | a0002c0001t0011a0002c0001t0020a0002c0004t0003 | a0002c0001t0011g0001 a0002c0001t0020g0024 a0002c0004t0003g0009 |
3 | 40 | 0.0750 | 8 | c.144 others(29): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1601945 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01361.hp2 HG02818.hp1 others(3): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0008 | a0001c0002t0001a0001c0002t0010a0001c0002t0023others(3): Show | a0001c0002t0001g0019 a0001c0002t0010g0008 a0001c0002t0023g0005 others(3): Show |
6 | 40 | 0.1500 | 8 | c.144 others(29): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34896585 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01074.hp2 others(22): Show |
a0001a0002a0004 | a0001c0001a0002c0007a0004c0005 | a0001c0001t0001a0001c0001t0005a0002c0007t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0062 others(21): Show |
25 | 266 | 0.0940 | 8 | c.138 others(27): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02647.hp2 HG02818.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0018 a0001c0001t0001g0133 a0001c0001t0001g0190 others(1): Show |
4 | 266 | 0.0150 | 8 | c.-51 others(23): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36461748 | T | TCCGCCCG others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01891.hp2 HG03041.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0031others(3): Show | a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0022g0071 others(4): Show |
7 | 144 | 0.0486 | 8 | c.164 others(29): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55190289 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01070.hp1 others(36): Show |
a0002a0003a0007 | a0002c0002a0002c0004a0003c0005others(1): Show | a0002c0002t0001a0002c0004t0001a0003c0005t0001others(2): Show | a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 others(35): Show |
39 | 362 | 0.1077 | 8 | c.-1- others(23): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 1/18 | chr14 | TogoVar | |||||||
DLK1_chr14_100721892_100743224 | 100740364 | G | GTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(12): Show |
a0001a0003a0010 | a0001c0001a0003c0005a0010c0013 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0076 others(7): Show |
15 | 424 | 0.0354 | 8 | c.*54 others(19): Show |
DLK1 | ENSG00000185559.16 | transcript | ENST00000341267.9 | protein_coding | 2141 | chr14 | TogoVar | |||||||
DLL1_chr6_170277206_170296078 | 170281880 | C | CATGAATG others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01496.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0024others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0024t0001others(1): Show | a0001c0001t0001g0002 a0001c0002t0002g0001 a0001c0024t0001g0090 others(1): Show |
9 | 413 | 0.0218 | 8 | c.*99 others(17): Show |
DLL1 | ENSG00000198719.9 | transcript | ENST00000366756.4 | protein_coding | 325 | chr6 | TogoVar | |||||||
DLL3_chr19_39493947_39513469 | 39506282 | G | GCTTGAAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(20): Show |
a0001a0009 | a0001c0001a0001c0010a0009c0016 | a0001c0001t0001a0001c0010t0001a0009c0016t0001 | a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0081 others(7): Show |
23 | 428 | 0.0537 | 8 | c.109 others(25): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DLST_chr14_74876916_74908743 | 74878668 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00733.hp2 others(56): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(26): Show |
59 | 392 | 0.1505 | 8 | c.-32 others(19): Show |
DLST | ENSG00000119689.15 | transcript | ENST00000334220.9 | protein_coding | 3247 | chr14 | TogoVar | |||||||
DLST_chr14_74876916_74908743 | 74887200 | G | GTTCACAT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01168.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0004g0006 others(27): Show |
44 | 392 | 0.1122 | 8 | c.146 others(25): Show |
DLST | ENSG00000119689.15 | transcript | ENST00000334220.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLX3_chr17_49985005_50000224 | 49989003 | C | CTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01358.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0033a0001c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0033g0059 a0001c0002t0002g0002 others(2): Show |
10 | 438 | 0.0228 | 8 | c.*25 others(19): Show |
DLX3 | ENSG00000064195.7 | transcript | ENST00000434704.2 | protein_coding | 1001 | chr17 | TogoVar | |||||||
DLX3_chr17_49985005_50000224 | 49995433 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(20): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0032a0001c0002t0002others(5): Show | a0001c0001t0001g0001 a0001c0001t0032g0061 a0001c0002t0002g0002 others(7): Show |
23 | 438 | 0.0525 | 8 | c.-43 others(17): Show |
DLX3 | ENSG00000064195.7 | transcript | ENST00000434704.2 | protein_coding | 210 | chr17 | TogoVar | |||||||
DLX5_chr7_97015396_97029831 | 97016224 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(10): Show |
35 | 448 | 0.0781 | 8 | c.*45 others(19): Show |
DLX5 | ENSG00000105880.7 | transcript | ENST00000648378.1 | protein_coding | 4171 | chr7 | TogoVar | |||||||
DMAC1_chr9_7791500_7804778 | 7803715 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02523.hp1 NA19000.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0005 | a0002c0002t0001g0001 a0002c0002t0002g0018 a0002c0002t0005g0005 |
3 | 474 | 0.0063 | 8 | c.-39 others(19): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 3938 | chr9 | TogoVar | |||||||
DMAC2L_chr14_50307324_50332957 | 50320275 | A | ATTTTTAT others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0021 | 3 | 400 | 0.0075 | 8 | c.-5- others(23): Show |
DMAC2L | ENSG00000125375.18 | transcript | ENST00000557421.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DMAC2_chr19_41426318_41444912 | 41429825 | G | GTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(235): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0003c0004others(4): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(102): Show |
238 | 426 | 0.5587 | 8 | c.*24 others(19): Show |
DMAC2 | ENSG00000105341.19 | transcript | ENST00000221943.14 | protein_coding | 1492 | chr19 | TogoVar | |||||||
DMAC2_chr19_41426318_41444912 | 41432653 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 HG03195.hp2 others(1): Show |
a0003a0005 | a0003c0003a0003c0004a0005c0012 | a0003c0003t0001a0003c0003t0003a0003c0004t0009others(1): Show | a0003c0003t0001g0171 a0003c0003t0003g0167 a0003c0004t0009g0166 others(1): Show |
4 | 426 | 0.0094 | 8 | c.597 others(23): Show |
DMAC2 | ENSG00000105341.19 | transcript | ENST00000221943.14 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
DMAC2_chr19_41426318_41444912 | 41432706 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02622.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0007 | a0003c0003t0001g0025 a0003c0003t0001g0093 a0003c0003t0001g0178 others(1): Show |
5 | 426 | 0.0117 | 8 | c.597 others(23): Show |
DMAC2 | ENSG00000105341.19 | transcript | ENST00000221943.14 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
DMAC2_chr19_41426318_41444912 | 41432783 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02976.hp1 HG03540.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0075 a0003c0004t0002g0111 a0003c0004t0002g0112 others(1): Show |
4 | 426 | 0.0094 | 8 | c.597 others(23): Show |
DMAC2 | ENSG00000105341.19 | transcript | ENST00000221943.14 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122555807 | C | CCTATCTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00642.hp1 others(114): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0004a0002c0002others(52): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(63): Show | a0001c0001t0002g0131 a0001c0001t0002g0183 a0001c0001t0002g0197 others(111): Show |
117 | 282 | 0.4149 | 8 | c.-49 others(19): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 4946 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122561582 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG03453.hp1 others(3): Show |
a0001a0004a0078others(2): Show | a0001c0004a0004c0003a0078c0068others(2): Show | a0001c0004t0001a0004c0003t0003a0078c0068t0002others(2): Show | a0001c0004t0001g0118 a0004c0003t0003g0009 a0078c0068t0002g0119 others(2): Show |
6 | 282 | 0.0213 | 8 | c.61+ others(21): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122597065 | A | AGGCCAGG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00673.hp1 others(58): Show |
a0002a0007a0015others(18): Show | a0002c0002a0002c0095a0002c0099others(22): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(23): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0017 others(53): Show |
61 | 282 | 0.2163 | 8 | c.291 others(23): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122634340 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00673.hp1 others(14): Show |
a0001a0005a0006others(8): Show | a0001c0001a0005c0015a0006c0012others(8): Show | a0001c0001t0002a0005c0015t0002a0006c0012t0002others(8): Show | a0001c0001t0002g0131 a0001c0001t0002g0179 a0001c0001t0002g0196 others(14): Show |
17 | 282 | 0.0603 | 8 | c.654 others(27): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122644027 | T | TGATGCTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01071.hp1 others(57): Show |
a0001a0002a0003others(27): Show | a0001c0004a0002c0002a0003c0005others(28): Show | a0001c0004t0001a0002c0002t0001a0003c0005t0001others(28): Show | a0001c0004t0001g0118 a0001c0004t0001g0178 a0001c0004t0001g0220 others(53): Show |
60 | 282 | 0.2128 | 8 | c.*62 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 292 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122644119 | G | GCTGTGCG others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(53): Show |
a0001a0002a0003others(19): Show | a0001c0004a0002c0095a0003c0005others(21): Show | a0001c0004t0001a0001c0004t0004a0002c0095t0001others(27): Show | a0001c0004t0001g0162 a0001c0004t0001g0184 a0001c0004t0001g0185 others(51): Show |
56 | 282 | 0.1986 | 8 | c.*72 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 384 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122644141 | C | CTGCTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01071.hp1 others(61): Show |
a0001a0002a0003others(28): Show | a0001c0004a0002c0002a0003c0005others(29): Show | a0001c0004t0001a0002c0002t0001a0003c0005t0001others(29): Show | a0001c0004t0001g0118 a0001c0004t0001g0178 a0001c0004t0001g0220 others(56): Show |
64 | 282 | 0.2270 | 8 | c.*74 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 406 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122644173 | T | TTGCTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00609.hp1 others(113): Show |
a0001a0002a0003others(45): Show | a0001c0004a0001c0064a0001c0073others(49): Show | a0001c0004t0001a0001c0004t0003a0001c0064t0003others(55): Show | a0001c0004t0001g0118 a0001c0004t0001g0178 a0001c0004t0001g0220 others(102): Show |
116 | 282 | 0.4114 | 8 | c.*77 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 438 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122647132 | G | GTTCATTC others(1): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 NA19030.hp2 |
a0044a0046 | a0044c0118a0046c0112 | a0044c0118t0001a0046c0112t0003 | a0044c0118t0001g0016 a0046c0112t0003g0146 |
2 | 282 | 0.0071 | 8 | c.*37 others(19): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 3397 | chr10 | TogoVar | |||||||
DMBX1_chr1_46484836_46521216 | 46501192 | C | CCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01928.hp2 HG01952.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0009 | a0001c0004t0006g0023 a0001c0004t0006g0027 a0001c0004t0006g0063 others(2): Show |
6 | 430 | 0.0140 | 8 | c.-12 others(25): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DMBX1_chr1_46484836_46521216 | 46501192 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01433.hp2 others(31): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(13): Show | a0001c0001t0001g0270 a0001c0001t0002g0221 a0001c0002t0003g0163 others(23): Show |
34 | 430 | 0.0791 | 8 | c.-12 others(25): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |