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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDC3_chr15_74625558_74701024 | 74666343 | CCCTATGA | C | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02717.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0272a0001c0001t0003g0273a0001c0001t0003g0275others(10): Show | 13 | 286 | 0.0455 | -7 | c.484 others(24): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 3/6 | chr15 | TogoVar | ||||||
EDDM13_chr19_56267748_56315454 | 56284513 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(65): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0032a0001c0001t0001g0033others(58): Show | 68 | 396 | 0.1717 | -7 | c.127 others(22): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EDEM2_chr20_35110364_35152336 | 35148711 | TCAAAAAA | T | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0158a0001c0001t0001g0175a0001c0001t0001g0222others(3): Show | 6 | 332 | 0.0181 | -7 | c.-14 others(18): Show |
EDEM2 | ENSG00000088298.13 | transcript | ENST00000374492.8 | protein_coding | 1376 | chr20 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84080115 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0074a0001c0001t0001g0106a0001c0001t0002g0003others(20): Show | 23 | 158 | 0.1456 | -7 | c.652 others(26): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84161346 | TATGACTA | T | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0017a0001c0002t0005others(1): Show | a0001c0001t0001g0035a0001c0001t0017g0015a0001c0002t0005g0032others(3): Show | 6 | 158 | 0.0380 | -7 | c.355 others(26): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84262659 | GTTTTTTT | G | intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0024a0001c0001t0002g0053a0001c0002t0001g0144others(2): Show | 5 | 158 | 0.0317 | -7 | c.68- others(22): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDN3_chr20_59295611_59330992 | 59306595 | TAAAAAAA | T | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01074.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0039a0001c0001t0001g0099others(16): Show | 44 | 398 | 0.1106 | -7 | c.365 others(24): Show |
EDN3 | ENSG00000124205.18 | transcript | ENST00000337938.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EDNRA_chr4_147476097_147549954 | 147505327 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00597.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0165a0001c0001t0003g0008a0001c0001t0003g0211others(47): Show | 53 | 280 | 0.1893 | -7 | c.421 others(26): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EEA1_chr12_92765637_92934295 | 92877113 | TTTTTTTC | T | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG03516.hp2 others(1): Show |
a0002 | a0002c0008 | a0002c0008t0012 | a0002c0008t0012g0014a0002c0008t0012g0236a0002c0008t0012g0237others(1): Show | 4 | 244 | 0.0164 | -7 | c.118 others(26): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73524781 | TATATATA | T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01070.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0002a0001c0001t0002g0050a0001c0001t0002g0051others(1): Show | 28 | 424 | 0.0660 | -7 | c.-38 others(18): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3750 | chr6 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73524782 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01261.hp1 HG01928.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007 | a0001c0001t0002g0002a0001c0002t0007g0006 | 23 | 424 | 0.0543 | -7 | c.-38 others(18): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3751 | chr6 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20768081 | CTAACATA | C | intron_variant | MODIFIER | HG00735.hp1 HG02698.hp1 HG02809.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0003t0001 | a0001c0002t0001g0029a0001c0002t0001g0030a0001c0002t0001g0031others(8): Show | 11 | 348 | 0.0316 | -7 | c.-20 others(24): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124772420 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01074.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0264others(7): Show | 12 | 358 | 0.0335 | -7 | c.399 others(24): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101244 | ATATATAT | A | intron_variant | MODIFIER | HG01175.hp2 HG01433.hp1 HG01433.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0324a0001c0001t0001g0332a0001c0001t0001g0333others(13): Show | 16 | 442 | 0.0362 | -7 | c.87+ others(22): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF1G_chr11_62554596_62578891 | 62578063 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(172): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(87): Show | 175 | 262 | 0.6679 | -7 | c.-42 others(18): Show |
EEF1G | ENSG00000254772.10 | transcript | ENST00000329251.5 | protein_coding | 4173 | chr11 | TogoVar | ||||||
EEIG2_chr1_108555100_108644322 | 108598334 | CAAAAAAA | C | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0005a0001c0001t0004g0213a0001c0001t0004g0229others(2): Show | 6 | 272 | 0.0221 | -7 | c.138 others(24): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108642634 | TGACTAAA | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01070.hp1 HG01074.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(3): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0007others(48): Show | 54 | 272 | 0.1985 | -7 | c.*74 others(18): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 3313 | chr1 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89847741 | CAAAAAAA | C | intron_variant | MODIFIER | NA18959.hp1 NA18973.hp2 NA18989.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0016 | a0001c0003t0001g0011a0001c0003t0001g0012a0001c0003t0001g0023others(3): Show | 6 | 284 | 0.0211 | -7 | c.411 others(26): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129400120 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp1 others(80): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0002c0016others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0016t0001others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0056a0001c0001t0001g0184others(47): Show | 83 | 386 | 0.2150 | -7 | c.*14 others(18): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 1200 | chr3 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47349759 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(38): Show |
a0003a0007a0009others(1): Show | a0003c0004a0003c0008a0003c0016others(3): Show | a0003c0004t0002a0003c0008t0003a0003c0016t0002others(4): Show | a0003c0004t0002g0109a0003c0004t0002g0214a0003c0004t0002g0217others(37): Show | 41 | 356 | 0.1152 | -7 | c.661 others(24): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB14_chr1_46670159_46724114 | 46679599 | GTTTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(140): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(106): Show | 143 | 374 | 0.3824 | -7 | c.131 others(24): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245039300 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0120a0001c0001t0001g0201a0001c0001t0001g0229others(33): Show | 36 | 290 | 0.1241 | -7 | c.111 others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30026961 | CTTTTTTT | C | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02698.hp1 others(6): Show |
a0001a0005a0006 | a0001c0001a0005c0007a0006c0008 | a0001c0001t0001a0005c0007t0002a0006c0008t0002 | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0001t0001g0119others(6): Show | 9 | 248 | 0.0363 | -7 | c.104 others(26): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30097054 | ATATATAT | A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00741.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0005t0002others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0208others(18): Show | 21 | 248 | 0.0847 | -7 | c.432 others(26): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30097056 | ATATATTT | A | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02486.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0002 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0119others(3): Show | 6 | 248 | 0.0242 | -7 | c.432 others(26): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB6_chr22_43523778_43817305 | 43599509 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG02145.hp1 HG02886.hp2 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0116a0002c0002t0001g0117a0002c0002t0001g0120others(5): Show | 8 | 290 | 0.0276 | -7 | c.287 others(24): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 23/31 | chr22 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32935188 | CTTTCTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01361.hp2 others(16): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0002a0005c0013others(6): Show | a0001c0001t0005a0002c0002t0001a0002c0002t0004others(8): Show | a0001c0001t0005g0220a0002c0002t0001g0093a0002c0002t0001g0267others(16): Show | 19 | 284 | 0.0669 | -7 | c.279 others(26): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32963962 | TCTCCTTC | T | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03209.hp2 others(1): Show |
a0009a0016 | a0009c0041a0016c0018 | a0009c0041t0001a0016c0018t0004a0016c0018t0005 | a0009c0041t0001g0251a0016c0018t0004g0147a0016c0018t0004g0192others(1): Show | 4 | 284 | 0.0141 | -7 | c.*23 others(18): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 2118 | chr20 | TogoVar | ||||||
EFCAB9_chr5_172189172_172208454 | 172189813 | GAAAGGAA | G | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0124 | 4 | 408 | 0.0098 | -7 | c.-43 others(18): Show |
EFCAB9 | ENSG00000214360.5 | transcript | ENST00000398186.5 | protein_coding | 4358 | chr5 | TogoVar | ||||||
EFCAB9_chr5_172189172_172208454 | 172193214 | TAAAATAA | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00733.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0001g0040others(4): Show | 10 | 408 | 0.0245 | -7 | c.-95 others(16): Show |
EFCAB9 | ENSG00000214360.5 | transcript | ENST00000398186.5 | protein_coding | 957 | chr5 | TogoVar | ||||||
EFCC1_chr3_128996304_129045742 | 129028641 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01071.hp2 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0099others(19): Show | 24 | 354 | 0.0678 | -7 | c.981 others(24): Show |
EFCC1 | ENSG00000114654.8 | transcript | ENST00000683648.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EFEMP2_chr11_65861441_65877800 | 65870258 | AGGAGGGC | A | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG02083.hp2 others(9): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0006c0004t0001 | a0001c0001t0001g0007a0006c0004t0001g0022 | 12 | 374 | 0.0321 | -7 | c.491 others(20): Show |
EFEMP2 | ENSG00000172638.13 | transcript | ENST00000307998.11 | protein_coding | 5/10 | chr11 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19921786 | CAGTTGTA | C | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
a0008a0027 | a0008c0011a0027c0023 | a0008c0011t0001a0027c0023t0001 | a0008c0011t0001g0020a0008c0011t0001g0021a0008c0011t0001g0022others(6): Show | 9 | 344 | 0.0262 | -7 | c.790 others(24): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 1/12 | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52459662 | TTTGTTTG | T | intron_variant | MODIFIER | HG02451.hp1 HG03139.hp2 HG03516.hp1 |
a0009 | a0009c0009 | a0009c0009t0046a0009c0009t0091a0009c0009t0093 | a0009c0009t0046g0281a0009c0009t0091g0280a0009c0009t0093g0278 | 3 | 396 | 0.0076 | -7 | c.917 others(24): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC2_chrX_44142872_44348672 | 44189122 | CAAAAAAA | C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0011 | 1 | 221 | 0.0045 | -7 | c.175 others(28): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44209016 | AATCTGTG | A | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 221 | 0.0045 | -7 | c.175 others(28): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44232106 | TAACTGGG | T | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 221 | 0.0045 | -7 | c.162 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232644942 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 NA18942.hp2 NA18951.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0004a0001c0001t0012a0001c0004t0004others(1): Show | a0001c0001t0004g0319a0001c0001t0004g0352a0001c0001t0004g0353others(9): Show | 12 | 382 | 0.0314 | -7 | c.302 others(26): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD2_chr1_15404888_15435339 | 15405939 | TCCAGTGC | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0054a0001c0001t0001g0055others(50): Show | 66 | 424 | 0.1557 | -7 | c.-40 others(18): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 3948 | chr1 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1300241 | ATTTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG02004.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0057a0001c0001t0058others(1): Show | a0001c0001t0014g0133a0001c0001t0014g0134a0001c0001t0014g0153others(3): Show | 6 | 294 | 0.0204 | -7 | c.*32 others(16): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 325 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
EFNA5_chr5_107371894_107675937 | 107380373 | TTAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG01192.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0030a0001c0001t0037others(7): Show | a0001c0001t0029g0071a0001c0001t0029g0150a0001c0001t0030g0042others(9): Show | 12 | 190 | 0.0632 | -7 | c.*87 others(16): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 5/5 | 875 | chr5 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107380374 | TAAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0047a0001c0001t0048others(2): Show | a0001c0001t0046g0037a0001c0001t0047g0086a0001c0001t0048g0011others(2): Show | 5 | 190 | 0.0263 | -7 | c.*87 others(16): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 5/5 | 874 | chr5 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107430770 | CTTTCTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0005a0001c0001t0001g0090a0001c0001t0001g0098others(110): Show | 113 | 190 | 0.5947 | -7 | c.126 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107493196 | GTTGTTTT | G | intron_variant | MODIFIER | HG01192.hp1 HG02258.hp1 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0018others(6): Show | a0001c0001t0006g0089a0001c0001t0006g0176a0001c0001t0012g0178others(7): Show | 10 | 190 | 0.0526 | -7 | c.126 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107556778 | AAATAAAT | A | intron_variant | MODIFIER | HG02055.hp1 HG03195.hp1 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0045a0001c0001t0048others(3): Show | a0001c0001t0011g0038a0001c0001t0045g0026a0001c0001t0048g0011others(3): Show | 6 | 190 | 0.0316 | -7 | c.125 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107592021 | ATATATAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0074a0001c0001t0004g0004others(2): Show | 5 | 190 | 0.0263 | -7 | c.125 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107657858 | TAAAAACA | T | intron_variant | MODIFIER | HG00741.hp2 HG03579.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012a0001c0001t0041others(1): Show | a0001c0001t0011g0173a0001c0001t0012g0178a0001c0001t0041g0172others(1): Show | 4 | 190 | 0.0211 | -7 | c.125 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNB2_chr13_106484745_106540662 | 106507623 | TAAAAAAA | T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01884.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0161a0001c0001t0003g0162a0001c0001t0003g0172others(9): Show | 15 | 356 | 0.0421 | -7 | c.406 others(24): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
EFNB2_chr13_106484745_106540662 | 106532072 | AAAAAACC | A | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01243.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0003g0020a0001c0001t0003g0109a0001c0001t0003g0110others(19): Show | 27 | 356 | 0.0758 | -7 | c.122 others(24): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EFNB2_chr13_106484745_106540662 | 106540314 | CGGGGGTG | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(96): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0184others(88): Show | 99 | 356 | 0.2781 | -7 | c.-53 others(18): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 4653 | chr13 | TogoVar |