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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2C_chr10_269201_694668 | 322032 | C | CGAGAGGC others(89): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01515.hp2 HG02300.hp2 others(1): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0002 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 others(1): Show |
4 | 80 | 0.0500 | 96 | c.392 others(115): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322179 | C | CGAGAGGC others(89): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0032 | 1 | 82 | 0.0122 | 96 | c.392 others(115): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322228 | C | CGAGAGGC others(89): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0087 | 1 | 83 | 0.0120 | 96 | c.392 others(115): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 323475 | C | CAGTCAGT others(89): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0083 | 1 | 82 | 0.0122 | 96 | c.392 others(115): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92846848 | T | TGTATATA others(89): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 76 | 0.0132 | 96 | c.474 others(111): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92846867 | A | ATATACAC others(89): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 190 | 0.0053 | 96 | c.474 others(111): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3600767 | T | TATATAGA others(89): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0022 | 1 | 41 | 0.0244 | 96 | c.159 others(117): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1014973 | C | CGGTGCCT others(89): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0039 | 1 | 40 | 0.0250 | 96 | c.73+ others(115): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1246900 | A | AGGAACAC others(89): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03486.hp1 NA18906.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0008 | a0001c0003t0013a0002c0001t0002a0002c0001t0005others(1): Show | a0001c0003t0013g0007 a0002c0001t0002g0032 a0002c0001t0005g0035 others(1): Show |
4 | 11 | 0.3636 | 96 | c.74- others(113): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1430011 | T | TATATATA others(89): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 20 | 0.0500 | 96 | c.107 others(115): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55143843 | C | CAAATCTT others(89): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0034 | 1 | 136 | 0.0074 | 96 | c.*44 others(107): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 4291 | chr14 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153733 | A | AAAAAAAA others(89): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 NA18969.hp1 NA18979.hp1 others(4): Show |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0001a0010c0013t0001 | a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0115 others(1): Show |
7 | 381 | 0.0184 | 96 | c.*53 others(107): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4931 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153733 | A | AAAAAAAA others(89): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01928.hp1 HG02145.hp2 others(6): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0002 | a0001c0004t0001a0002c0003t0001a0003c0002t0001 | a0001c0004t0001g0016 a0001c0004t0001g0130 a0002c0003t0001g0012 others(4): Show |
9 | 383 | 0.0235 | 96 | c.*53 others(107): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4931 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153733 | A | AAAAAAAA others(89): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0029 | 1 | 375 | 0.0027 | 96 | c.*53 others(107): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4931 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153755 | A | AAAAAAAA others(89): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 41 | 0.0244 | 96 | c.*53 others(107): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4909 | chr19 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123912233 | T | TGGGGGGG others(89): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0065 | 1 | 149 | 0.0067 | 96 | c.101 others(115): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11711864 | T | TTATATAT others(89): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02809.hp1 HG02922.hp1 others(3): Show |
a0003a0015a0053others(2): Show | a0003c0134a0003c0135a0015c0021others(3): Show | a0003c0134t0001a0003c0135t0003a0015c0021t0001others(3): Show | a0003c0134t0001g0080 a0003c0135t0003g0020 a0015c0021t0001g0003 others(3): Show |
6 | 158 | 0.0380 | 96 | c.555 others(115): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11712046 | A | ATATATAA others(89): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0093 | a0001c0093t0001 | a0001c0093t0001g0166 | 1 | 174 | 0.0057 | 96 | c.555 others(115): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157357233 | T | TTGTTTCT others(89): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 364 | 0.0027 | 96 | c.-26 others(113): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157357253 | T | TTCTTTCT others(89): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 251 | 0.0040 | 96 | c.-26 others(113): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237127 | G | GAGAGAGA others(89): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 96 | c.*29 others(107): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2847 | chr11 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237127 | G | GAGAGAGA others(89): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 96 | c.*29 others(107): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2847 | chr11 | TogoVar | |||||||
DNMT1_chr19_10128346_10199953 | 10183092 | T | TATACACA others(89): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 282 | 0.0035 | 96 | c.81- others(111): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 1/40 | chr19 | TogoVar | |||||||
DNMT3A_chr2_25222874_25346925 | 25300681 | T | TTATATAT others(89): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0176 | a0001c0001t0176g0171 | 1 | 262 | 0.0038 | 96 | c.73- others(109): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947547 | A | ATGGTGGT others(89): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0074 | 1 | 108 | 0.0093 | 96 | c.47- others(113): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948085 | G | GTGGTGGT others(89): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0110 | 1 | 128 | 0.0078 | 96 | c.47- others(113): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948277 | G | GTGGTGAT others(89): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0005 | a0005c0066 | a0005c0066t0003 | a0005c0066t0003g0073 | 1 | 129 | 0.0078 | 96 | c.47- others(113): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126963648 | T | TTCCTTCC others(89): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 105 | 0.0095 | 96 | c.47- others(111): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51015961 | A | ATGATATA others(89): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 108 | 0.0093 | 96 | c.316 others(115): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | chr3 | TogoVar | |||||||
DOCK5_chr8_25179689_25420711 | 25216561 | C | CATACAAT others(89): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19240.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0080a0001c0009t0036 | a0001c0002t0080g0090 a0001c0009t0036g0089 |
2 | 118 | 0.0169 | 96 | c.44- others(113): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400031 | T | TCACCACC others(89): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0078 | 1 | 165 | 0.0061 | 96 | c.323 others(113): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400785 | C | CCACCATC others(89): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0051 | 1 | 220 | 0.0045 | 96 | c.323 others(115): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400895 | T | TTCACCAC others(89): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 196 | 0.0051 | 96 | c.323 others(115): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400975 | C | CACCCTCA others(89): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0039 | a0004c0039t0001 | a0004c0039t0001g0216 | 1 | 155 | 0.0065 | 96 | c.323 others(115): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69612399 | T | TTGTGTGC others(89): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01106.hp1 HG01243.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(13): Show | a0001c0001t0001g0071 a0001c0001t0001g0100 a0001c0001t0011g0095 others(14): Show |
17 | 81 | 0.2099 | 96 | c.289 others(115): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3490111 | C | CTCATTCA others(89): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0325 | 1 | 275 | 0.0036 | 96 | c.772 others(111): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | chr4 | TogoVar | |||||||
DOK7_chr4_3458306_3499482 | 3490354 | C | CCCCCTGC others(89): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091 | 1 | 398 | 0.0025 | 96 | c.772 others(111): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | chr4 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89634578 | C | CCCTTCCT others(89): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 242 | 0.0041 | 96 | c.105 others(113): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634834 | T | TCCCTTCC others(89): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 242 | 0.0041 | 96 | c.105 others(113): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634907 | C | CCCTTTCC others(89): Show |
intron_variant | MODIFIER | HG03942.hp2 NA20905.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0109 a0006c0008t0001g0101 |
2 | 208 | 0.0096 | 96 | c.105 others(111): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP2NB_chr16_68008436_68020911 | 68020784 | C | CGTATATA others(89): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 344 | 0.0058 | 96 | c.-50 others(107): Show |
DPEP2NB | ENSG00000263201.1 | transcript | ENST00000574912.1 | protein_coding | 4874 | chr16 | TogoVar | |||||||
DPP9_chr19_4670227_4728842 | 4702841 | G | GGGGAGGG others(89): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 26 | 0.0385 | 96 | c.770 others(111): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 7/21 | chr19 | TogoVar | |||||||
DPP9_chr19_4670227_4728842 | 4702846 | G | GGGAGAGG others(89): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0024 | 1 | 291 | 0.0034 | 96 | c.770 others(111): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 7/21 | chr19 | TogoVar | |||||||
DPYSL4_chr10_132181948_132210759 | 132186856 | T | TCGGGGGC others(89): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0198 | 1 | 381 | 0.0026 | 96 | c.-20 others(105): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 91 | chr10 | TogoVar | |||||||
DR1_chr1_93340907_93374493 | 93344857 | T | TTATATAT others(89): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0030 | 2 | 255 | 0.0078 | 96 | c.-17 others(107): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 1049 | chr1 | TogoVar | |||||||
DR1_chr1_93340907_93374493 | 93344877 | A | ATTATATA others(89): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0089 | 1 | 115 | 0.0087 | 96 | c.-17 others(107): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 1029 | chr1 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 640023 | C | CGGCCCCG others(89): Show |
disruptive_inframe_insertion | MODERATE | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 414 | 0.0024 | 96 | c.869 others(103): Show |
p.Cys others(109): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 906/1399 | 870/1260 | 290/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
DRD4_chr11_632269_645706 | 640113 | C | CCCCTGCG others(89): Show |
disruptive_inframe_insertion | MODERATE | HG02886.hp1 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0052 | 1 | 420 | 0.0024 | 96 | c.932 others(103): Show |
p.Ala others(109): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 969/1399 | 933/1260 | 311/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
DRD4_chr11_632269_645706 | 640138 | C | CCCGCGCC others(89): Show |
disruptive_inframe_insertion | MODERATE | HG02015.hp1 NA18939.hp1 |
a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0010 | 2 | 419 | 0.0048 | 96 | c.907 others(103): Show |
p.Pro others(109): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 944/1399 | 908/1260 | 303/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
EDA_chrX_69611113_70044472 | 69645586 | A | ATATATAT others(89): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 218 | 0.0046 | 96 | c.396 others(115): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar |