regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZCCHC2_chr18_62518025_62583579 | 62581718 | CAGGTGGA others(81): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03098.hp1 HG03098.hp2 others(1): Show |
a0004a0008 | a0004c0016a0008c0023 | a0004c0016t0014a0008c0023t0009 | a0004c0016t0014g0050a0004c0016t0014g0217a0004c0016t0014g0218others(1): Show | 4 | 312 | 0.0128 | -88 | c.*51 others(99): Show |
ZCCHC2 | ENSG00000141664.10 | transcript | ENST00000269499.10 | protein_coding | 3140 | chr18 | TogoVar | ||||||
ZCWPW2_chr3_28343721_28531358 | 28380962 | ATATATAT others(81): Show |
A | intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0142 | 1 | 254 | 0.0039 | -88 | c.-13 others(107): Show |
ZCWPW2 | ENSG00000206559.8 | transcript | ENST00000383768.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ZIM3_chr19_57129096_57150202 | 57137862 | GGAAGGAA others(81): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 418 | 0.0024 | -88 | c.142 others(103): Show |
ZIM3 | ENSG00000141946.1 | transcript | ENST00000269834.1 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
ZNF236_chr18_76817557_76977901 | 76858946 | GGGTGCAG others(81): Show |
G | intron_variant | MODIFIER | HG03654.hp1 HG03669.hp1 |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0044 | a0001c0005t0005g0178a0001c0005t0044g0172 | 2 | 346 | 0.0058 | -88 | c.363 others(105): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ZNF365_chr10_62369369_62407450 | 62370086 | CATATATA others(81): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp1 HG06807.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0038a0001c0001t0031g0020 | 3 | 350 | 0.0086 | -88 | c.-43 others(99): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 4282 | chr10 | TogoVar | ||||||
ZNF705A_chr12_8152015_8185046 | 8183004 | GCTGAGGC others(81): Show |
G | downstream_gene_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0218 | 1 | 420 | 0.0024 | -88 | c.*54 others(99): Show |
ZNF705A | ENSG00000196946.11 | transcript | ENST00000396570.8 | protein_coding | 2959 | chr12 | TogoVar | ||||||
ZNF787_chr19_56082366_56126295 | 56104111 | GACACCGC others(81): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG01884.hp1 others(27): Show |
a0000a0002a0004 | a0000c0005a0000c0020a0000c0026others(2): Show | a0000c0005t0014a0000c0005t0039a0000c0020t0029others(16): Show | a0000c0005t0014g0033a0000c0005t0039g0051a0000c0020t0029g0056others(25): Show | 30 | 410 | 0.0732 | -88 | c.-10 others(103): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
ZSCAN22_chr19_58321994_58347332 | 58326586 | TCACCCTC others(81): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0022others(2): Show | 11 | 400 | 0.0275 | -88 | c.-57 others(97): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 407 | chr19 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95196650 | AAGGAAGG others(80): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02970.hp2 HG03471.hp1 |
a0001a0011 | a0001c0001a0011c0056 | a0001c0001t0002a0001c0001t0006a0011c0056t0009 | a0001c0001t0002g0160a0001c0001t0006g0028a0011c0056t0009g0090 | 3 | 248 | 0.0121 | -87 | c.116 others(106): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179229724 | CCCCCGCC others(80): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0345 | 1 | 350 | 0.0029 | -87 | c.-41 others(96): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 48 | chr1 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1023036 | AGCCTCTG others(80): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0070 | 1 | 337 | 0.0030 | -87 | c.179 others(106): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1118913 | TTCCCAGC others(80): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 337 | 0.0030 | -87 | c.246 others(104): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1153592 | CCCAGGCA others(80): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0103 | 1 | 337 | 0.0030 | -87 | c.61+ others(104): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1161085 | GTCTGAGT others(80): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0137 | 1 | 337 | 0.0030 | -87 | c.61+ others(104): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289785 | CCCCGTGT others(80): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 295 | 0.0034 | -87 | c.*36 others(98): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2605 | chr1 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88051829 | GGTCTTAT others(80): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053 | 1 | 230 | 0.0044 | -87 | c.324 others(106): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133124144 | CCCACCCT others(80): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0038 | 1 | 368 | 0.0027 | -87 | c.402 others(104): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRL1_chr19_14142743_14211169 | 14210169 | TGCCTCAG others(80): Show |
T | upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0026 | a0001c0026t0008 | a0001c0026t0008g0102 | 1 | 222 | 0.0045 | -87 | c.-43 others(98): Show |
ADGRL1 | ENSG00000072071.17 | transcript | ENST00000361434.8 | protein_coding | 4001 | chr19 | TogoVar | ||||||
ADH1B_chr4_99299971_99326401 | 99305501 | CATATATA others(80): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02723.hp2 HG06807.hp2 |
a0001 | a0001c0007 | a0001c0007t0039 | a0001c0007t0039g0045 | 2 | 364 | 0.0055 | -87 | c.*22 others(98): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 9/9 | 2252 | chr4 | TogoVar | |||||
ADM2_chr22_50476543_50491437 | 50488466 | GACGGCTG others(80): Show |
G | downstream_gene_variant | MODIFIER | HG01433.hp2 HG01515.hp1 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0022a0001c0001t0028others(2): Show | a0001c0001t0017g0001a0001c0001t0022g0001a0001c0001t0028g0001others(2): Show | 6 | 446 | 0.0135 | -87 | c.*55 others(98): Show |
ADM2 | ENSG00000128165.9 | transcript | ENST00000395737.2 | protein_coding | 2030 | chr22 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344423 | ATGTGTGA others(80): Show |
A | intron_variant | MODIFIER | HG02074.hp1 HG03710.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0072a0002c0002t0001g0091 | 2 | 268 | 0.0075 | -87 | c.62+ others(100): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8107878 | AAAGAAAG others(80): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0181a0001c0002t0001g0044a0001c0002t0001g0201others(7): Show | 10 | 422 | 0.0237 | -87 | c.168 others(104): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
AMHR2_chr12_53418855_53436672 | 53422012 | AGAGATCG others(80): Show |
A | upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 356 | 0.0028 | -87 | c.-19 others(98): Show |
AMHR2 | ENSG00000135409.11 | transcript | ENST00000257863.9 | protein_coding | 1842 | chr12 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70517821 | ATAAATGT others(80): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(57): Show |
a0003a0007 | a0003c0004a0003c0009a0007c0008 | a0003c0004t0001a0003c0009t0001a0007c0008t0001 | a0003c0004t0001g0003a0003c0004t0001g0009a0003c0004t0001g0016others(15): Show | 60 | 458 | 0.1310 | -87 | c.-84 others(96): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 747 | chr4 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132758875 | CCACCCAC others(80): Show |
C | intron_variant | MODIFIER | HG02080.hp2 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0103 | 1 | 350 | 0.0029 | -87 | c.181 others(104): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132759034 | GGAGTGGC others(80): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0174a0001c0001t0006g0177 | 2 | 350 | 0.0057 | -87 | c.181 others(104): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132759118 | CGCAGAGT others(80): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(110): Show |
a0001a0007a0008others(4): Show | a0001c0001a0001c0012a0001c0017others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(103): Show | 113 | 350 | 0.3229 | -87 | c.181 others(104): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89341879 | CGGCAGGA others(80): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0027 | a0027c0043 | a0027c0043t0001 | a0027c0043t0001g0178 | 1 | 310 | 0.0032 | -87 | c.-59 others(106): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
ANTXRL_chr10_46281997_46335129 | 46295506 | GTTAGGAA others(80): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp1 |
a0002 | a0002c0005a0002c0009 | a0002c0005t0001a0002c0009t0001 | a0002c0005t0001g0169a0002c0009t0001g0184 | 2 | 369 | 0.0054 | -87 | c.393 others(102): Show |
ANTXRL | ENSG00000274209.6 | transcript | ENST00000620264.5 | protein_coding | 3/16 | chr10 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1888672 | GGGTTTGT others(80): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(43): Show |
a0001a0002a0005others(3): Show | a0001c0002a0001c0006a0001c0007others(32): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0003others(35): Show | a0001c0002t0001g0198a0001c0002t0001g0259a0001c0006t0001g0219others(42): Show | 46 | 363 | 0.1267 | -87 | c.118 others(106): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1888736 | GTGAGGAG others(80): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0095 | a0001c0095t0011 | a0001c0095t0011g0344 | 1 | 363 | 0.0028 | -87 | c.118 others(106): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1888983 | GGTGTGAG others(80): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0010 | a0010c0097 | a0010c0097t0014 | a0010c0097t0014g0205 | 1 | 363 | 0.0028 | -87 | c.118 others(106): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | chr8 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7362008 | AAGAAGAA others(80): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0262 | 1 | 298 | 0.0034 | -87 | c.-11 others(104): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARID3A_chr19_921035_980939 | 950119 | TGAACGGA others(80): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0032 | a0001c0032t0005 | a0001c0032t0005g0348 | 1 | 364 | 0.0028 | -87 | c.694 others(104): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARID3A_chr19_921035_980939 | 950297 | CGGATGGA others(80): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp1 others(56): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0009a0001c0001t0039a0001c0001t0042others(48): Show | a0001c0001t0009g0107a0001c0001t0039g0232a0001c0001t0042g0178others(56): Show | 59 | 364 | 0.1621 | -87 | c.694 others(104): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ASB1_chr2_238421927_238457250 | 238453087 | CATGCCCT others(80): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG02630.hp1 HG02735.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0001t0046others(1): Show | a0001c0001t0002g0006a0001c0001t0002g0030a0001c0001t0015g0039others(3): Show | 7 | 416 | 0.0168 | -87 | c.*65 others(98): Show |
ASB1 | ENSG00000065802.12 | transcript | ENST00000264607.9 | protein_coding | 838 | chr2 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804156 | CCCTCCTT others(80): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02738.hp2 |
a0001 | a0001c0004a0001c0013 | a0001c0004t0006a0001c0013t0004 | a0001c0004t0006g0109a0001c0013t0004g0035 | 2 | 254 | 0.0079 | -87 | c.163 others(102): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP5MC1_chr17_48887787_48900871 | 48900612 | GGTCAGGA others(80): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | -87 | c.*48 others(98): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 4742 | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512859 | CCTTCCAC others(80): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp2 |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0074a0011c0015t0039 | a0001c0001t0074g0306a0011c0015t0039g0303 | 2 | 394 | 0.0051 | -87 | c.170 others(106): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BAD_chr11_64264830_64289665 | 64270898 | GAGACACA others(80): Show |
G | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 388 | 0.0026 | -87 | c.378 others(102): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
BATF2_chr11_64982945_65001971 | 64983473 | CATTTTAT others(80): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013a0001c0001t0004g0085a0001c0001t0004g0086 | 5 | 404 | 0.0124 | -87 | c.*55 others(98): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4471 | chr11 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467480 | GTGGTGGT others(80): Show |
G | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0198 | 1 | 262 | 0.0038 | -87 | c.487 others(104): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1435206 | AGAGGAGG others(80): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0053 | 2 | 360 | 0.0056 | -87 | c.92- others(100): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1435232 | AGCGGAGG others(80): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp2 others(37): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0046a0001c0001t0001g0049a0001c0001t0001g0087others(35): Show | 40 | 360 | 0.1111 | -87 | c.92- others(100): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1435508 | CCGGTGGG others(80): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0006g0247 | 3 | 360 | 0.0083 | -87 | c.92- others(100): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BTBD19_chr1_44803523_44820585 | 44816595 | ATATATAT others(80): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(76): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(51): Show | 79 | 436 | 0.1812 | -87 | c.*28 others(98): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 1011 | chr1 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585476 | GGAGGGTA others(80): Show |
G | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 354 | 0.0028 | -87 | c.-22 others(104): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C8orf33_chr8_145047467_145061030 | 145052242 | CCGCCCCG others(80): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02735.hp1 NA19011.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0003g0002others(1): Show | 5 | 406 | 0.0123 | -87 | c.-24 others(96): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 224 | chr8 | TogoVar | ||||||
CA1_chr8_85322608_85383113 | 85344172 | TGTATATA others(80): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG01261.hp2 others(16): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0034a0001c0001t0001g0053a0001c0001t0001g0238others(15): Show | 19 | 324 | 0.0586 | -87 | c.-24 others(104): Show |
CA1 | ENSG00000133742.14 | transcript | ENST00000523022.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24317626 | GACAGACA others(80): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01256.hp1 HG01258.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0018others(27): Show | 30 | 366 | 0.0820 | -87 | c.212 others(106): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |