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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPYSL2_chr8_26509031_26663175 | 26524835 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18970.hp2 NA18977.hp1 NA19063.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0031 | a0001c0001t0012g0023 a0001c0001t0012g0025 a0001c0001t0012g0217 others(1): Show |
4 | 316 | 0.0127 | 13 | c.354 others(32): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26527804 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 316 | 0.0032 | 13 | c.354 others(32): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26546921 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0052 | 1 | 316 | 0.0032 | 13 | c.354 others(32): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556144 | G | GTATATAT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(85): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0303 a0001c0001t0002g0225 a0001c0001t0002g0228 others(84): Show |
88 | 316 | 0.2785 | 13 | c.355 others(32): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556144 | G | GTATATAT others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0013 a0001c0001t0019g0014 |
2 | 316 | 0.0063 | 13 | c.355 others(32): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556175 | A | ATTATATA others(6): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0089 | 1 | 316 | 0.0032 | 13 | c.355 others(32): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
DPYSL2_chr8_26509031_26663175 | 26556328 | G | GTATATAT others(6): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0029 | 1 | 316 | 0.0032 | 13 | c.355 others(32): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556354 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0006 | a0001c0001t0024g0139 a0001c0002t0006g0131 |
2 | 316 | 0.0063 | 13 | c.355 others(32): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132205982 | G | GCCCCCCC others(6): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 418 | 0.0024 | 13 | c.*10 others(24): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 224 | chr10 | TogoVar | |||||||
DPYSL5_chr2_26843132_26955351 | 26936945 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18954.hp2 NA18959.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0128 a0001c0002t0002g0155 a0001c0002t0004g0099 |
3 | 232 | 0.0129 | 13 | c.947 others(30): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRAM1_chr12_101872580_101928612 | 101889520 | G | GAAGGAAG others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01106.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 others(16): Show |
20 | 396 | 0.0505 | 13 | c.132 others(30): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DRAM1_chr12_101872580_101928612 | 101904426 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0337 a0001c0001t0005g0250 |
2 | 396 | 0.0051 | 13 | c.342 others(30): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
DRAM2_chr1_111112163_111145093 | 111131592 | A | AAAAGATA others(6): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 440 | 0.0023 | 13 | c.-14 others(26): Show |
DRAM2 | ENSG00000156171.15 | transcript | ENST00000484310.6 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
DRD1_chr5_175435036_175449182 | 175446106 | A | AAAAAAAC others(6): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 490 | 0.0020 | 13 | c.-28 others(24): Show |
DRD1 | ENSG00000184845.4 | transcript | ENST00000393752.3 | protein_coding | 1925 | chr5 | TogoVar | |||||||
DRD2_chr11_113404605_113480398 | 113439838 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18951.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0198 a0001c0001t0004g0033 |
2 | 340 | 0.0059 | 13 | c.-31 others(32): Show |
DRD2 | ENSG00000149295.14 | transcript | ENST00000362072.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
DRD3_chr3_114122580_114184052 | 114164220 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02647.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0004g0335 |
3 | 360 | 0.0083 | 13 | c.271 others(30): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
DRG2_chr17_18082948_18112969 | 18090406 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 418 | 0.0024 | 13 | c.64+ others(28): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DRG2_chr17_18082948_18112969 | 18090406 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0106 | 1 | 418 | 0.0024 | 13 | c.64+ others(28): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DRG2_chr17_18082948_18112969 | 18090407 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 418 | 0.0024 | 13 | c.64+ others(28): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31399412 | T | TGTGTGTG others(6): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 HG03927.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0003a0002c0004t0002 | a0001c0002t0003g0123 a0002c0004t0002g0110 |
2 | 322 | 0.0062 | 13 | c.*20 others(24): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 1081 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421898 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0086 | 1 | 322 | 0.0031 | 13 | c.342 others(30): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31446446 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0297 | 1 | 322 | 0.0031 | 13 | c.288 others(32): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 23/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31493984 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 322 | 0.0031 | 13 | c.175 others(30): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 12/35 | chr5 | TogoVar | |||||||
DRP2_chrX_101214786_101269502 | 101224191 | G | GTTTTGTT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03516.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0010a0001c0005t0005 | a0001c0003t0010g0026 a0001c0005t0005g0023 |
2 | 260 | 0.0077 | 13 | c.-16 others(30): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DSC1_chr18_31124236_31167856 | 31159046 | G | GATTTTTT others(6): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 378 | 0.0027 | 13 | c.148 others(28): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 2/15 | chr18 | TogoVar | |||||||
DSC1_chr18_31124236_31167856 | 31159047 | G | GTTTTGTT others(6): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18993.hp2 NA18998.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0001a0002c0006t0001 | a0001c0003t0001g0020 a0002c0006t0001g0021 a0002c0006t0001g0137 others(1): Show |
6 | 378 | 0.0159 | 13 | c.148 others(28): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 2/15 | chr18 | TogoVar | |||||||
DSC1_chr18_31124236_31167856 | 31159047 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(93): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0018a0001c0003t0002others(18): Show | a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0018g0308 others(84): Show |
96 | 378 | 0.2540 | 13 | c.148 others(28): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 2/15 | chr18 | TogoVar | |||||||
DSC3_chr18_30984365_31047742 | 31036798 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03041.hp2 HG03098.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0120others(1): Show | a0002c0002t0001g0032 a0002c0002t0002g0076 a0002c0002t0002g0077 others(2): Show |
5 | 392 | 0.0128 | 13 | c.70- others(28): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117484023 | C | CGCCCCCC others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02109.hp2 others(10): Show |
a0001a0002 | a0001c0009a0001c0012a0001c0017others(4): Show | a0001c0009t0001a0001c0009t0002a0001c0009t0003others(7): Show | a0001c0009t0001g0068 a0001c0009t0001g0069 a0001c0009t0002g0019 others(10): Show |
13 | 194 | 0.0670 | 13 | c.236 others(32): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117484023 | C | CGCCCCCC others(6): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01192.hp1 HG01993.hp1 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0005a0001c0007a0001c0008others(6): Show | a0001c0005t0001a0001c0005t0002a0001c0007t0001others(11): Show | a0001c0005t0001g0084 a0001c0005t0001g0190 a0001c0005t0002g0144 others(13): Show |
16 | 194 | 0.0825 | 13 | c.236 others(32): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117515610 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00673.hp2 others(12): Show |
a0001a0002 | a0001c0008a0001c0016a0001c0057others(7): Show | a0001c0008t0001a0001c0016t0001a0001c0057t0001others(11): Show | a0001c0008t0001g0167 a0001c0016t0001g0044 a0001c0057t0001g0075 others(12): Show |
15 | 194 | 0.0773 | 13 | c.178 others(30): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 8/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117672102 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02055.hp1 |
a0001a0002 | a0001c0036a0002c0001 | a0001c0036t0003a0002c0001t0001 | a0001c0036t0003g0063 a0002c0001t0001g0076 |
2 | 194 | 0.0103 | 13 | c.511 others(34): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117687426 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0048 | a0001c0048t0002 | a0001c0048t0002g0057 | 1 | 194 | 0.0052 | 13 | c.511 others(32): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSE_chr6_116365947_116449861 | 116421463 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0311 a0001c0001t0024g0312 |
2 | 366 | 0.0055 | 13 | c.417 others(30): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DSE_chr6_116365947_116449861 | 116421464 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0005 | a0005c0006 | a0005c0006t0017 | a0005c0006t0017g0303 | 1 | 366 | 0.0027 | 13 | c.417 others(30): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
DSE_chr6_116365947_116449861 | 116446393 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0048 | a0001c0001t0002g0187 a0001c0001t0007g0246 a0001c0001t0007g0249 others(2): Show |
5 | 366 | 0.0137 | 13 | c.*90 others(24): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 1533 | chr6 | TogoVar | |||||||
DSN1_chr20_36746795_36778763 | 36751473 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(148): Show |
205 | 332 | 0.6175 | 13 | c.*13 others(24): Show |
DSN1 | ENSG00000149636.16 | transcript | ENST00000373750.9 | protein_coding | 321 | chr20 | TogoVar | |||||||
DSN1_chr20_36746795_36778763 | 36765247 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0009a0001c0005t0004 | a0001c0001t0009g0242 a0001c0005t0004g0045 |
2 | 332 | 0.0060 | 13 | c.502 others(30): Show |
DSN1 | ENSG00000149636.16 | transcript | ENST00000373750.9 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
DSP_chr6_7536671_7591714 | 7554082 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0221 | 1 | 396 | 0.0025 | 13 | c.171 others(30): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/23 | chr6 | TogoVar | |||||||
DSP_chr6_7536671_7591714 | 7554126 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0372 | 1 | 396 | 0.0025 | 13 | c.171 others(30): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/23 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56593516 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0049 | a0049c0022 | a0049c0022t0001 | a0049c0022t0001g0027 | 1 | 84 | 0.0119 | 13 | c.127 others(32): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 48/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56920895 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0079 | 1 | 84 | 0.0119 | 13 | c.217 others(32): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 2/103 | chr6 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18622942 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(78): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0197 others(78): Show |
81 | 398 | 0.2035 | 13 | c.371 others(30): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18649326 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01928.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0091 |
3 | 398 | 0.0075 | 13 | c.477 others(32): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18753607 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03490.hp1 HG04204.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0253 a0001c0001t0001g0262 others(5): Show |
8 | 398 | 0.0201 | 13 | c.*19 others(30): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTL_chr1_212030748_212110013 | 212051442 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18968.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0221 |
3 | 364 | 0.0082 | 13 | c.460 others(30): Show |
DTL | ENSG00000143476.18 | transcript | ENST00000366991.5 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DTNBP1_chr6_15517807_15668028 | 15553594 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02965.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0081 a0001c0001t0001g0084 others(5): Show |
8 | 314 | 0.0255 | 13 | c.512 others(32): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DTNBP1_chr6_15517807_15668028 | 15636157 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01255.hp1 HG02071.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0208 a0001c0001t0002g0202 a0001c0001t0002g0203 others(9): Show |
12 | 314 | 0.0382 | 13 | c.222 others(30): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 4/9 | chr6 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25399350 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034 a0001c0001t0001g0077 a0001c0001t0001g0157 others(1): Show |
4 | 168 | 0.0238 | 13 | c.157 others(34): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25427180 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 168 | 0.0060 | 13 | c.155 others(30): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 15/20 | chr2 | TogoVar |