| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| B3GNTL1_chr17_82937149_83056770 | 83011960 | ATCCCAGC others(185): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(137): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(62): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167others(132): Show | 140 | 266 | 0.5263 | -192 | c.363 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 5/12 | chr17 | TogoVar | ||||||
| B4GALNT4_chr11_364499_387117 | 381318 | GTCCTGAC others(185): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(82): Show |
a0001a0002a0004others(11): Show | a0001c0003a0001c0021a0002c0002others(20): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(26): Show | a0001c0003t0001g0073a0001c0003t0001g0099a0001c0003t0001g0105others(82): Show | 85 | 184 | 0.4620 | -192 | c.299 others(16): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61045903 | AAATATAT others(185): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0063a0001c0002t0001g0067a0001c0002t0002g0001 | 3 | 74 | 0.0405 | -192 | c.202 others(19): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BPIFB2_chr20_33002704_33028703 | 33025491 | TATTCATC others(185): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | -192 | c.*21 others(11): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 1789 | chr20 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1430586 | CGGTCTGG others(185): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0050 | 1 | 360 | 0.0028 | -192 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1431720 | CGGTCTGG others(185): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0018a0002c0008t0005 | a0001c0001t0018g0137a0002c0008t0005g0278 | 2 | 360 | 0.0056 | -192 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| C1orf159_chr1_1076823_1121089 | 1080649 | ACCCCCAC others(185): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG02559.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0073a0001c0002t0002g0251 | 2 | 326 | 0.0061 | -192 | c.*20 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1173 | chr1 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 404839 | GACGGGGT others(185): Show |
G | downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0009 | 1 | 322 | 0.0031 | -192 | c.*20 others(11): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 605 | chr19 | TogoVar | ||||||
| CABLES1_chr18_23130485_23265470 | 23218348 | CCTCCCGC others(185): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01975.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0015a0001c0001t0017others(5): Show | a0001c0001t0003g0183a0001c0001t0015g0006a0001c0001t0017g0196others(6): Show | 9 | 278 | 0.0324 | -192 | c.108 others(19): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CASZ1_chr1_10631604_10801646 | 10744344 | CGGCACCA others(185): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG02647.hp1 HG02717.hp1 others(5): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0002c0014others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0054others(4): Show | a0001c0001t0001g0118a0001c0001t0001g0235a0001c0001t0004g0145others(5): Show | 8 | 236 | 0.0339 | -192 | c.-77 others(19): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
| CCNF_chr16_2424447_2463854 | 2442466 | TATTATAT others(185): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0190a0001c0001t0001g0191others(1): Show | 4 | 276 | 0.0145 | -192 | c.778 others(16): Show |
CCNF | ENSG00000162063.13 | transcript | ENST00000397066.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CLPTM1L_chr5_1312752_1350099 | 1339266 | TGCCCTAA others(185): Show |
T | intron_variant | MODIFIER | NA18951.hp1 NA18984.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0227a0001c0001t0001g0228 | 3 | 370 | 0.0081 | -192 | c.454 others(15): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
| CLPTM1L_chr5_1312752_1350099 | 1339583 | GGCACCCT others(185): Show |
G | intron_variant | MODIFIER | HG03927.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0166 | 1 | 370 | 0.0027 | -192 | c.454 others(15): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
| COL5A1_chr9_134636803_134849843 | 134849525 | GATCACAC others(185): Show |
G | downstream_gene_variant | MODIFIER | HG02735.hp2 HG03486.hp1 HG04204.hp1 others(3): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0147a0001c0001t0006g0129a0001c0001t0008g0260others(3): Show | 6 | 272 | 0.0221 | -192 | c.*72 others(11): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4683 | chr9 | TogoVar | ||||||
| CPNE7_chr16_89570758_89602246 | 89587765 | CACCCACA others(185): Show |
C | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0132 | 1 | 348 | 0.0029 | -192 | c.927 others(15): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CPNE7_chr16_89570758_89602246 | 89587977 | CCGTGTCA others(185): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 | 1 | 348 | 0.0029 | -192 | c.928 others(15): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CRTAC1_chr10_97860000_98035621 | 97900829 | TGTAGCCC others(185): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02071.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0026a0001c0001t0001g0038others(18): Show | 21 | 204 | 0.1029 | -192 | c.113 others(17): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 8/14 | chr10 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211339 | TTTTACTC others(185): Show |
T | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 148 | 0.0068 | -192 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211790 | TATTTACT others(185): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0021 | 1 | 148 | 0.0068 | -192 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14212238 | TTTTACTC others(185): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0015 | a0001c0015t0032 | a0001c0015t0032g0019 | 1 | 148 | 0.0068 | -192 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 608188 | CACACAGC others(185): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0086 | 1 | 88 | 0.0114 | -192 | c.85+ others(17): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIXDC1_chr11_111932343_112027653 | 112027292 | ATCCCAGA others(185): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 278 | 0.0036 | -192 | c.*82 others(11): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 4640 | chr11 | TogoVar | ||||||
| DLAT_chr11_112020408_112069404 | 112027292 | ATCCCAGA others(185): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 336 | 0.0030 | -192 | c.381 others(17): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1017197 | CGCCTCCA others(185): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -192 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DNAI2_chr17_74269234_74319884 | 74301878 | GGAAGGAA others(185): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG02559.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0002c0006others(2): Show | a0001c0002t0002a0001c0007t0002a0002c0006t0003others(2): Show | a0001c0002t0002g0329a0001c0007t0002g0327a0002c0006t0003g0257others(2): Show | 5 | 398 | 0.0126 | -192 | c.987 others(15): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAJB6_chr7_157332004_157422439 | 157369892 | CAACATTA others(185): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01081.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0002g0134 | 3 | 372 | 0.0081 | -192 | c.346 others(17): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DOC2B_chr17_137789_186650 | 166891 | GTTCTTGA others(185): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 339 | 0.0030 | -192 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 168029 | CATGGTCT others(185): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0041 | 1 | 339 | 0.0030 | -192 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOCK5_chr8_25179689_25420711 | 25216544 | TATGTATA others(185): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0038 | a0004c0038t0030 | a0004c0038t0030g0015 | 1 | 210 | 0.0048 | -192 | c.44- others(17): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2377484 | ACGAGCGC others(185): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0357a0001c0001t0001g0358 | 2 | 384 | 0.0052 | -192 | c.215 others(17): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2377531 | AGGAGGAA others(185): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0216 | 1 | 384 | 0.0026 | -192 | c.215 others(17): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2377548 | ACGAGCGC others(185): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG02602.hp1 HG03239.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010a0001c0003t0001g0184a0001c0003t0001g0205others(3): Show | 7 | 384 | 0.0182 | -192 | c.215 others(17): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ENOSF1_chr18_665318_717630 | 666915 | TGATGGAG others(185): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp1 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0001 | a0001c0003t0001g0284a0002c0005t0001g0095 | 2 | 418 | 0.0048 | -192 | c.*71 others(11): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3402 | chr18 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1086094 | GTTGTTGT others(185): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0153 | 1 | 162 | 0.0062 | -192 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1087072 | GTTGTTGT others(185): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00738.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(6): Show | a0001c0001t0003g0029a0001c0001t0008g0010a0001c0001t0011g0020others(6): Show | 9 | 162 | 0.0556 | -192 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1087527 | GTTGTTGT others(185): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00639.hp2 others(26): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0080a0001c0001t0003g0029a0001c0001t0004g0075others(26): Show | 29 | 162 | 0.1790 | -192 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1088050 | GTTGTTGT others(185): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01243.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0027others(3): Show | a0001c0001t0008g0010a0001c0001t0010g0009a0001c0001t0027g0119others(3): Show | 6 | 162 | 0.0370 | -192 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1088115 | GTTGTTGT others(185): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01192.hp1 HG01433.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0012a0001c0001t0014others(4): Show | a0001c0001t0009g0007a0001c0001t0012g0018a0001c0001t0014g0036others(4): Show | 7 | 162 | 0.0432 | -192 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1088180 | GTTGTTGT others(185): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG03669.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015a0001c0001t0126 | a0001c0001t0013g0005a0001c0001t0015g0023a0001c0001t0126g0030 | 3 | 162 | 0.0185 | -192 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1088245 | GTTGTTGT others(185): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0051 | 1 | 162 | 0.0062 | -192 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1088558 | ATTATTAT others(185): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG03195.hp2 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0005a0009c0008t0041 | a0001c0001t0005g0041a0009c0008t0041g0140 | 2 | 162 | 0.0124 | -192 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1090588 | GTTGTTGT others(185): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02965.hp2 NA20905.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0093a0001c0001t0118a0001c0003t0088 | a0001c0001t0093g0008a0001c0001t0118g0026a0001c0003t0088g0021 | 3 | 162 | 0.0185 | -192 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERICH1_chr8_659200_736224 | 675595 | CGGCGAGG others(185): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0079a0001c0001t0002g0292 | 2 | 378 | 0.0053 | -192 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| FAM161A_chr2_61819848_61859060 | 61848888 | ATATATAT others(185): Show |
A | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0162 | 1 | 400 | 0.0025 | -192 | c.183 others(17): Show |
FAM161A | ENSG00000170264.13 | transcript | ENST00000404929.6 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
| FARS2_chr6_5256513_5776583 | 5581893 | ACGGTTAA others(185): Show |
A | intron_variant | MODIFIER | HG04115.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0073 | 2 | 170 | 0.0118 | -192 | c.106 others(21): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FGD6_chr12_95071749_95222467 | 95148769 | ACATATAT others(185): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0290 | 1 | 384 | 0.0026 | -192 | c.268 others(19): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180615373 | ATCCACTT others(185): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124a0001c0001t0002g0191a0001c0001t0002g0195others(2): Show | 5 | 388 | 0.0129 | -192 | c.321 others(17): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | ||||||
| FOCAD_chr9_20679259_21000950 | 20973777 | ATTTTTTC others(185): Show |
A | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 320 | 0.0031 | -192 | c.413 others(19): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 35/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| FOXN3_chr14_89151177_89422233 | 89362421 | CTCCACCA others(185): Show |
C | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0078 | 1 | 230 | 0.0044 | -192 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132231444 | TCCCTAGT others(185): Show |
T | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 183 | 0.0055 | -192 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar |