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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA2_chr15_60342151_60402986 | 60366820 | GCCAGCCG others(112): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02145.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0201 a0001c0001t0001g0210 |
3 | 334 | 0.0090 | -119 | c.149 others(17): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128467 | GCCCCCGC others(112): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0211 | 1 | 406 | 0.0025 | -119 | c.806 others(15): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128672 | AGCTCCGA others(112): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0371 | 1 | 406 | 0.0025 | -119 | c.806 others(15): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112766851 | TGTGGGAA others(112): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02647.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0021a0001c0004t0003others(4): Show | a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 others(9): Show |
12 | 254 | 0.0472 | -119 | c.40- others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112766856 | GAAGGTGG others(112): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01981.hp2 HG02148.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0019a0001c0005t0071a0001c0006t0001others(1): Show | a0001c0001t0019g0018 a0001c0005t0071g0125 a0001c0006t0001g0194 others(1): Show |
4 | 254 | 0.0158 | -119 | c.40- others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112767061 | GGGGAGAT others(112): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02647.hp2 others(10): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0021a0001c0004t0003others(5): Show | a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 others(10): Show |
13 | 254 | 0.0512 | -119 | c.40- others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112767105 | GGGTGTGG others(112): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp2 HG03130.hp1 |
a0001 | a0001c0004a0001c0019a0001c0043 | a0001c0004t0003a0001c0019t0015a0001c0043t0044 | a0001c0004t0003g0149 a0001c0019t0015g0147 a0001c0043t0044g0148 |
3 | 254 | 0.0118 | -119 | c.40- others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112767118 | CTGGGAGC others(112): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0119 | 1 | 254 | 0.0039 | -119 | c.40- others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112767397 | TGGGGGCC others(112): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0012 | a0012c0044 | a0012c0044t0001 | a0012c0044t0001g0069 | 1 | 254 | 0.0039 | -119 | c.40- others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46524048 | AAAGGAAT others(112): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 410 | 0.0024 | -119 | c.-10 others(21): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
BEGAIN_chr14_100532147_100592417 | 100546339 | ACCCCGGC others(112): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG02258.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0179 a0001c0003t0001g0197 a0001c0004t0001g0276 others(4): Show |
7 | 326 | 0.0215 | -119 | c.233 others(14): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 3/6 | chr14 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91962203 | AGGCATAT others(112): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0120 | 1 | 318 | 0.0031 | -119 | c.-37 others(15): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
BTBD19_chr1_44803523_44820585 | 44816650 | ATATTATA others(112): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG01993.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0015others(3): Show | a0001c0001t0008g0008 a0001c0001t0010g0008 a0001c0001t0015g0008 others(5): Show |
8 | 436 | 0.0184 | -119 | c.*28 others(11): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 1066 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1077212 | GGGTGGCT others(112): Show |
G | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 326 | 0.0031 | -119 | c.*55 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4610 | chr1 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138126705 | CCCCGGCC others(112): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02257.hp1 HG02698.hp2 others(1): Show |
a0002 | a0002c0005a0002c0008 | a0002c0005t0001a0002c0008t0001 | a0002c0005t0001g0175 a0002c0005t0001g0201 a0002c0005t0001g0202 others(1): Show |
4 | 248 | 0.0161 | -119 | c.*47 others(11): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2087 | chr9 | TogoVar | |||||||
CARD10_chr22_37485362_37524415 | 37509763 | GACCCCCA others(112): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02071.hp1 |
a0002 | a0002c0001a0002c0023 | a0002c0001t0001a0002c0023t0002 | a0002c0001t0001g0163 a0002c0023t0002g0162 |
2 | 276 | 0.0073 | -119 | c.909 others(15): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/19 | chr22 | TogoVar | |||||||
CARD10_chr22_37485362_37524415 | 37509770 | ATGCCCAT others(112): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00621.hp2 others(126): Show |
a0001a0002a0003others(14): Show | a0001c0003a0001c0006a0001c0007others(32): Show | a0001c0003t0001a0001c0003t0002a0001c0006t0001others(37): Show | a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 others(118): Show |
129 | 276 | 0.4674 | -119 | c.909 others(15): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/19 | chr22 | TogoVar | |||||||
CCDC18_chr1_93175724_93283730 | 93282199 | ACCAGGCA others(112): Show |
A | downstream_gene_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0247 | 1 | 316 | 0.0032 | -119 | c.*37 others(11): Show |
CCDC18 | ENSG00000122483.18 | transcript | ENST00000690025.1 | protein_coding | 3470 | chr1 | TogoVar | |||||||
CDK12_chr17_39456486_39539544 | 39498888 | TTTCTTTC others(112): Show |
T | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0012 | 1 | 260 | 0.0039 | -119 | c.242 others(19): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDK12_chr17_39456486_39539544 | 39499023 | CTTTCTTT others(112): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 260 | 0.0039 | -119 | c.242 others(19): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 5/13 | chr17 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84189936 | GACACTCT others(112): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 214 | 0.0047 | -119 | c.111 others(19): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 11/26 | chr6 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178294412 | CTCCCAAA others(112): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02922.hp2 others(1): Show |
a0002a0008a0009others(1): Show | a0002c0002a0008c0019a0009c0020others(1): Show | a0002c0002t0009a0008c0019t0003a0009c0020t0005others(1): Show | a0002c0002t0009g0225 a0008c0019t0003g0215 a0009c0020t0005g0160 others(1): Show |
4 | 236 | 0.0170 | -119 | c.407 others(17): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86111104 | GCACCAAT others(112): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp2 HG02922.hp1 others(2): Show |
a0021a0033a0037others(1): Show | a0021c0051a0021c0052a0033c0054others(2): Show | a0021c0051t0002a0021c0052t0003a0033c0054t0004others(2): Show | a0021c0051t0002g0096 a0021c0052t0003g0098 a0033c0054t0004g0097 others(2): Show |
5 | 238 | 0.0210 | -119 | c.159 others(19): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110481743 | TTGCTGGA others(112): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0121 | a0002c0121t0015 | a0002c0121t0015g0368 | 1 | 372 | 0.0027 | -119 | c.275 others(17): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46135334 | CAACACCA others(112): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(111): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0007a0001c0015others(21): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0009others(28): Show | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 others(98): Show |
114 | 364 | 0.3132 | -119 | c.*27 others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2487 | chr21 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36270018 | GTTTGTTA others(112): Show |
G | downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 448 | 0.0022 | -119 | c.*44 others(11): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 2273 | chr11 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826358 | GGGGCGGG others(112): Show |
G | upstream_gene_variant | MODIFIER | HG02738.hp1 HG03710.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0015 | a0001c0001t0004g0128 a0001c0001t0008g0132 a0001c0001t0015g0127 |
3 | 416 | 0.0072 | -119 | c.-51 others(9): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 230 | chr4 | TogoVar | |||||||
CXCL6_chr4_73831678_73843760 | 73835979 | CTCTCTGT others(112): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(430): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show |
433 | 444 | 0.9752 | -119 | c.-77 others(9): Show |
CXCL6 | ENSG00000124875.10 | transcript | ENST00000226317.10 | protein_coding | 698 | chr4 | TogoVar | |||||||
DCC_chr18_52335197_53540899 | 52366610 | GCTCAGAA others(112): Show |
G | intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0063 | 1 | 114 | 0.0088 | -119 | c.91+ others(17): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 52366615 | GAAACCTT others(112): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG02895.hp2 HG02922.hp2 others(2): Show |
a0001a0003a0007 | a0001c0002a0001c0005a0003c0006others(2): Show | a0001c0002t0006a0001c0005t0007a0003c0006t0010others(2): Show | a0001c0002t0006g0003 a0001c0005t0007g0114 a0003c0006t0010g0001 others(2): Show |
5 | 114 | 0.0439 | -119 | c.91+ others(17): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DENND1C_chr19_6462207_6486787 | 6479263 | GGATCTCT others(112): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 |
a0006a0020 | a0006c0010a0020c0037 | a0006c0010t0001a0020c0037t0001 | a0006c0010t0001g0272 a0020c0037t0001g0051 |
2 | 420 | 0.0048 | -119 | c.176 others(15): Show |
DENND1C | ENSG00000205744.10 | transcript | ENST00000381480.7 | protein_coding | 4/22 | chr19 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233463396 | CTCCTCAC others(112): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0004a0001c0004t0023 | a0001c0003t0004g0247 a0001c0004t0023g0156 a0001c0004t0023g0157 |
3 | 336 | 0.0089 | -119 | c.318 others(17): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51775737 | AGTATTCT others(112): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0232 | 1 | 420 | 0.0024 | -119 | c.363 others(17): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775775 | TGTATTCT others(112): Show |
T | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 420 | 0.0024 | -119 | c.363 others(17): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DLD_chr7_107886183_107926198 | 107888675 | GTCTAGCT others(112): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(121): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(67): Show |
124 | 406 | 0.3054 | -119 | c.-25 others(11): Show |
DLD | ENSG00000091140.15 | transcript | ENST00000205402.10 | protein_coding | 2507 | chr7 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1330614 | GGGAGCAC others(112): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0031 | 1 | 40 | 0.0250 | -119 | c.106 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32452375 | GGGAAAGG others(112): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0020 | a0002c0020t0030 | a0002c0020t0030g0125 | 1 | 126 | 0.0079 | -119 | c.360 others(19): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33190886 | AATATTAT others(112): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0023 | a0003c0008t0023g0005 | 1 | 126 | 0.0079 | -119 | c.31+ others(17): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20989302 | CTCCAAGG others(112): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp2 NA19240.hp1 |
a0001a0005 | a0001c0033a0005c0077 | a0001c0033t0001a0005c0077t0001 | a0001c0033t0001g0075 a0001c0033t0001g0077 a0005c0077t0001g0160 |
3 | 234 | 0.0128 | -119 | c.646 others(19): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 44/61 | chr16 | TogoVar | |||||||
DNAI1_chr9_34453805_34525984 | 34482268 | AGTCCTCA others(112): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG02451.hp1 others(7): Show |
a0001a0007 | a0001c0007a0001c0011a0007c0009 | a0001c0007t0001a0001c0011t0001a0007c0009t0001 | a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0007t0001g0045 others(7): Show |
10 | 382 | 0.0262 | -119 | c.49- others(15): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ELP1_chr9_108862517_108939124 | 108900756 | ACACACAC others(112): Show |
A | intron_variant | MODIFIER | HG03579.hp2 NA18943.hp2 NA19070.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0011a0001c0002t0004others(1): Show | a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0011g0071 others(2): Show |
5 | 416 | 0.0120 | -119 | c.201 others(17): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 18/36 | chr9 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72422394 | TGACACTC others(112): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0004 | a0002c0004t0013 | a0002c0004t0013g0005 | 1 | 104 | 0.0096 | -119 | c.198 others(21): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113107650 | CGTGGGTG others(112): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp1 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0202 |
3 | 400 | 0.0075 | -119 | c.64+ others(15): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FER1L5_chr2_96637764_96709883 | 96659290 | TTTCCTTC others(112): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0195 | 1 | 226 | 0.0044 | -119 | c.748 others(16): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FER1L6_chr8_123846987_124125061 | 124023959 | TGACCTCG others(112): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0029 | a0029c0030 | a0029c0030t0007 | a0029c0030t0007g0150 | 1 | 196 | 0.0051 | -119 | c.228 others(17): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 18/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FEZ1_chr11_125437881_125501265 | 125493367 | AAAGAAAG others(112): Show |
A | intron_variant | MODIFIER | HG03209.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0012 a0001c0001t0012g0013 |
2 | 356 | 0.0056 | -119 | c.-46 others(17): Show |
FEZ1 | ENSG00000149557.14 | transcript | ENST00000278919.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
FNDC11_chr20_63549159_63561695 | 63559600 | GAGTCAGG others(112): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 4 | 416 | 0.0096 | -119 | c.*29 others(11): Show |
FNDC11 | ENSG00000125531.7 | transcript | ENST00000370097.2 | protein_coding | 2906 | chr20 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46135334 | CAACACCA others(112): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(58): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(22): Show | a0001c0001t0001g0093 a0001c0001t0001g0131 a0001c0001t0001g0132 others(58): Show |
61 | 230 | 0.2652 | -119 | c.*15 others(11): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 1444 | chr21 | TogoVar | |||||||
GAK_chr4_844277_937316 | 914071 | CACACAGC others(112): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03453.hp1 |
a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0023 a0007c0015t0001g0263 |
2 | 390 | 0.0051 | -119 | c.146 others(15): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71680012 | TCTCCCTT others(112): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0042 a0001c0001t0004g0029 a0001c0001t0006g0056 others(13): Show |
16 | 76 | 0.2105 | -119 | c.150 others(19): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |