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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELP2_chr18_36124899_36185557 | 36149483 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01243.hp2 others(23): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007a0002c0002t0008others(8): Show | a0002c0002t0003g0015a0002c0002t0003g0284a0002c0002t0003g0286others(23): Show | 26 | 378 | 0.0688 | 5 | c.112 others(24): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ELSPBP1_chr19_47989632_48030154 | 48003886 | C | CTTCTA | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG01099.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0332a0001c0001t0002g0148a0001c0001t0002g0171others(5): Show | 8 | 388 | 0.0206 | 5 | c.-17 others(22): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ELSPBP1_chr19_47989632_48030154 | 48006621 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01952.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0042others(22): Show | 25 | 388 | 0.0644 | 5 | c.-17 others(22): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ELSPBP1_chr19_47989632_48030154 | 48029280 | A | AAAAAT | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG02818.hp1 others(4): Show |
a0001a0003a0010 | a0001c0001a0003c0007a0010c0011 | a0001c0001t0001a0003c0007t0001a0010c0011t0001 | a0001c0001t0001g0317a0003c0007t0001g0008a0003c0007t0001g0013others(4): Show | 7 | 388 | 0.0180 | 5 | c.*43 others(16): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 4127 | chr19 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50472243 | T | TATATG | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02922.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0108a0001c0001t0118 | a0001c0001t0010g0001a0001c0001t0108g0001a0001c0001t0118g0001 | 5 | 352 | 0.0142 | 5 | c.-43 others(16): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4263 | chr19 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50472243 | T | TGTATA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01346.hp1 HG02451.hp1 others(5): Show |
a0001a0005 | a0001c0002a0005c0004 | a0001c0002t0047a0001c0002t0059a0001c0002t0119others(4): Show | a0001c0002t0047g0007a0001c0002t0059g0007a0001c0002t0119g0054others(4): Show | 8 | 352 | 0.0227 | 5 | c.-43 others(16): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4263 | chr19 | TogoVar | ||||||
EMC1_chr1_19210660_19256524 | 19218990 | A | AAAAAC | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(188): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0015others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0005others(135): Show | 191 | 350 | 0.5457 | 5 | c.*30 others(14): Show |
EMC1 | ENSG00000127463.16 | transcript | ENST00000477853.6 | protein_coding | 23/23 | 312 | chr1 | TogoVar | |||||
EMC1_chr1_19210660_19256524 | 19245627 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG01106.hp1 others(40): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(10): Show | a0001c0001t0001g0254a0003c0003t0001g0243a0003c0003t0001g0247others(34): Show | 43 | 350 | 0.1229 | 5 | c.96- others(18): Show |
EMC1 | ENSG00000127463.16 | transcript | ENST00000477853.6 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
EMC3_chr3_9957682_9991841 | 9963477 | A | ATATTT | 3_prime_UTR_variant | MODIFIER | HG01981.hp1 HG02280.hp2 HG02735.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0001t0028a0001c0003t0017 | a0001c0001t0017g0164a0001c0001t0017g0183a0001c0001t0028g0133others(3): Show | 6 | 322 | 0.0186 | 5 | c.*59 others(14): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 8/8 | 591 | chr3 | TogoVar | |||||
EMC3_chr3_9957682_9991841 | 9978145 | T | TAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00673.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0090others(16): Show | 21 | 322 | 0.0652 | 5 | c.156 others(20): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
EMC4_chr15_34220016_34235156 | 34224044 | T | TCAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(268): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(28): Show | 271 | 362 | 0.7486 | 5 | c.-10 others(16): Show |
EMC4 | ENSG00000128463.13 | transcript | ENST00000267750.9 | protein_coding | 971 | chr15 | TogoVar | ||||||
EMC7_chr15_34079017_34106862 | 34082214 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG02280.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0016others(14): Show | 19 | 410 | 0.0463 | 5 | c.*21 others(16): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 1802 | chr15 | TogoVar | ||||||
EMC8_chr16_85773624_85804544 | 85776609 | G | GAAAAA | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG02886.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016a0001c0001t0005g0054a0001c0001t0005g0055others(2): Show | 10 | 408 | 0.0245 | 5 | c.*30 others(16): Show |
EMC8 | ENSG00000131148.9 | transcript | ENST00000253457.8 | protein_coding | 2014 | chr16 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100409215 | A | ATTTAT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(79): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0023a0002c0002t0001others(8): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0101others(78): Show | 82 | 262 | 0.3130 | 5 | c.*39 others(22): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 11/11 | chr4 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100440053 | T | TGTGAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01069.hp1 others(54): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0023a0002c0002t0001others(6): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0185others(53): Show | 57 | 262 | 0.2176 | 5 | c.415 others(22): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100470378 | T | TAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0004a0001c0001t0006a0001c0001t0019others(2): Show | a0001c0001t0004g0004a0001c0001t0004g0131a0001c0001t0004g0250others(8): Show | 12 | 262 | 0.0458 | 5 | c.259 others(22): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100473365 | G | GTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp2 HG01255.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0196a0001c0001t0002g0032a0002c0002t0001g0017others(14): Show | 17 | 262 | 0.0649 | 5 | c.259 others(22): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
EMD_chrX_154374295_154386523 | 154375871 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01257.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0001a0001c0001t0009g0001 | 13 | 284 | 0.0458 | 5 | c.-36 others(16): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 3423 | chrX | TogoVar | ||||||
EME2_chr16_1767810_1786702 | 1771809 | G | GCCCCC | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0015others(12): Show | a0001c0001t0002g0004a0001c0001t0008g0003a0001c0001t0008g0015others(14): Show | 30 | 430 | 0.0698 | 5 | c.-14 others(16): Show |
EME2 | ENSG00000197774.14 | transcript | ENST00000568449.7 | protein_coding | 1000 | chr16 | TogoVar | ||||||
EMID1_chr22_29200896_29264597 | 29203542 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01891.hp1 others(3): Show |
a0001a0003a0004 | a0001c0002a0001c0009a0003c0003others(1): Show | a0001c0002t0002a0001c0009t0001a0003c0003t0001others(2): Show | a0001c0002t0002g0289a0001c0009t0001g0281a0003c0003t0001g0226others(3): Show | 6 | 348 | 0.0172 | 5 | c.-24 others(16): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 2353 | chr22 | TogoVar | ||||||
EMID1_chr22_29200896_29264597 | 29244757 | A | AAGACG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(37): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0005 | a0001c0002t0001a0001c0002t0002a0002c0001t0001others(3): Show | a0001c0002t0001g0018a0001c0002t0001g0117a0001c0002t0001g0229others(36): Show | 40 | 348 | 0.1149 | 5 | c.111 others(24): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EMILIN1_chr2_27073615_27091403 | 27086721 | C | CCGGGG | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01167.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0021others(5): Show | 17 | 316 | 0.0538 | 5 | c.*70 others(14): Show |
EMILIN1 | ENSG00000138080.14 | transcript | ENST00000380320.9 | protein_coding | 319 | chr2 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2865157 | T | TTTGAA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0002c0005others(4): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0016others(9): Show | a0001c0001t0002g0254a0001c0001t0010g0041a0001c0001t0016g0344others(10): Show | 13 | 452 | 0.0288 | 5 | c.257 others(24): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99796899 | T | TGTGTG | intron_variant | MODIFIER | NA18954.hp1 NA18954.hp2 NA18983.hp2 others(1): Show |
a0002a0003 | a0002c0001a0003c0002 | a0002c0001t0002a0003c0002t0001a0003c0002t0002others(1): Show | a0002c0001t0002g0160a0003c0002t0001g0161a0003c0002t0002g0162others(1): Show | 4 | 288 | 0.0139 | 5 | c.67+ others(20): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99913164 | G | GTTATA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00733.hp1 others(29): Show |
a0001a0004 | a0001c0003a0001c0013a0004c0008 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(3): Show | a0001c0003t0001g0001a0001c0003t0001g0007a0001c0003t0001g0008others(28): Show | 32 | 288 | 0.1111 | 5 | c.149 others(24): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML2_chr19_45604400_45644397 | 45630551 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01358.hp1 others(10): Show |
a0001a0003a0012others(1): Show | a0001c0001a0003c0003a0012c0022others(1): Show | a0001c0001t0001a0003c0003t0001a0012c0022t0002others(1): Show | a0001c0001t0001g0042a0001c0001t0001g0049a0001c0001t0001g0073others(10): Show | 13 | 382 | 0.0340 | 5 | c.511 others(20): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 6/18 | chr19 | TogoVar | ||||||
EML2_chr19_45604400_45644397 | 45631884 | A | ATTTTT | intron_variant | MODIFIER | HG00438.hp1 HG01891.hp2 HG02074.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0007t0001a0003c0003t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(8): Show | 11 | 382 | 0.0288 | 5 | c.510 others(20): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 6/18 | chr19 | TogoVar | ||||||
EML2_chr19_45604400_45644397 | 45641397 | A | AGACCT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00735.hp1 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0104a0001c0001t0001g0150others(68): Show | 83 | 382 | 0.2173 | 5 | c.-20 others(16): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 2001 | chr19 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42221596 | G | GGTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG06807.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0009 | a0001c0001t0010g0126a0001c0001t0010g0137a0001c0001t0010g0138others(1): Show | 4 | 358 | 0.0112 | 5 | c.26- others(22): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42222787 | G | GTTTGT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(118): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0059a0001c0001t0002g0240a0001c0001t0002g0241others(118): Show | 121 | 358 | 0.3380 | 5 | c.26- others(22): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42226656 | C | CAAAAT | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01071.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0189a0002c0002t0001g0032a0002c0002t0001g0044others(8): Show | 11 | 358 | 0.0307 | 5 | c.26- others(22): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01070.hp1 HG01167.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0001a0003c0003t0002others(1): Show | a0001c0001t0002g0240a0001c0001t0002g0266a0002c0002t0001g0044others(7): Show | 10 | 358 | 0.0279 | 5 | c.26- others(18): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42249293 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(155): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0001c0010others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0002g0122a0001c0001t0002g0187a0001c0001t0002g0191others(153): Show | 158 | 358 | 0.4413 | 5 | c.208 others(22): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML5_chr14_88607431_88797953 | 88729869 | T | TCTTTG | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01256.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0283a0001c0001t0002g0087a0001c0001t0002g0143others(9): Show | 13 | 332 | 0.0392 | 5 | c.105 others(24): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 7/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88759685 | T | TAAAAA | intron_variant | MODIFIER | HG02165.hp1 NA18948.hp2 NA18959.hp1 others(7): Show |
a0002a0010 | a0002c0002a0010c0013 | a0002c0002t0001a0002c0002t0003a0002c0002t0037others(1): Show | a0002c0002t0001g0223a0002c0002t0001g0261a0002c0002t0001g0270others(7): Show | 10 | 332 | 0.0301 | 5 | c.198 others(22): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 1/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88778778 | A | AAAAAC | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022a0001c0001t0024others(1): Show | a0001c0001t0006g0208a0001c0001t0022g0203a0001c0001t0022g0204others(3): Show | 6 | 332 | 0.0181 | 5 | c.197 others(24): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 1/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796356 | A | ATATAT | upstream_gene_variant | MODIFIER | HG02559.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0210a0001c0001t0006g0218a0001c0001t0006g0219others(1): Show | 4 | 332 | 0.0121 | 5 | c.-38 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3404 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796358 | A | ATATAT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01099.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0017others(9): Show | a0001c0001t0001g0211a0001c0001t0011g0214a0001c0001t0011g0215others(25): Show | 28 | 332 | 0.0843 | 5 | c.-38 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3406 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796385 | A | ATATAT | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02630.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0001g0210a0001c0001t0006g0218a0001c0001t0006g0219others(8): Show | 11 | 332 | 0.0331 | 5 | c.-38 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3433 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796412 | A | ATATAT | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0283a0001c0001t0001g0290a0001c0001t0006g0003others(3): Show | 7 | 332 | 0.0211 | 5 | c.-39 others(16): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3460 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54760822 | A | ATTTTT | intron_variant | MODIFIER | HG02559.hp2 HG02647.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0016a0001c0004t0040a0001c0005t0001others(1): Show | a0001c0004t0016g0082a0001c0004t0016g0085a0001c0004t0040g0094others(3): Show | 6 | 264 | 0.0227 | 5 | c.197 others(24): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54797164 | C | CAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG02132.hp2 others(21): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(12): Show | a0001c0001t0003g0105a0001c0001t0003g0143a0001c0001t0007g0026others(21): Show | 24 | 264 | 0.0909 | 5 | c.198 others(24): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54882289 | T | TTTTTC | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02886.hp1 others(6): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0014a0001c0001t0016a0001c0002t0006others(3): Show | a0001c0001t0014g0008a0001c0001t0014g0009a0001c0001t0014g0059others(6): Show | 9 | 264 | 0.0341 | 5 | c.243 others(24): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945213 | C | CTGCCG | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01952.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0252a0001c0003t0002g0151a0001c0003t0002g0154 | 3 | 264 | 0.0114 | 5 | c.400 others(24): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EMP2_chr16_10523422_10585598 | 10532745 | T | TTTTTC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(114): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(23): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0030others(112): Show | 117 | 402 | 0.2910 | 5 | c.*15 others(14): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 5/5 | 159 | chr16 | TogoVar | |||||
EMP2_chr16_10523422_10585598 | 10532759 | T | TTTTTC | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG01257.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0006a0001c0001t0042a0001c0001t0043others(6): Show | a0001c0001t0006g0044a0001c0001t0006g0084a0001c0001t0006g0106others(19): Show | 22 | 402 | 0.0547 | 5 | c.*14 others(14): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 5/5 | 145 | chr16 | TogoVar | |||||
EMP2_chr16_10523422_10585598 | 10568780 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG02630.hp2 NA18978.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0024a0001c0001t0030others(3): Show | a0001c0001t0001g0353a0001c0001t0024g0280a0001c0001t0030g0279others(3): Show | 6 | 402 | 0.0149 | 5 | c.-61 others(24): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10575237 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00733.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0105a0001c0001t0001g0214a0001c0001t0001g0311others(27): Show | 30 | 402 | 0.0746 | 5 | c.-61 others(22): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10581573 | A | ACAGGG | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01361.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0227a0001c0001t0002g0208a0001c0001t0003g0165others(1): Show | 4 | 402 | 0.0100 | 5 | c.-10 others(16): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 976 | chr16 | TogoVar | ||||||
EMSY_chr11_76440018_76558031 | 76523704 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00735.hp1 others(43): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0026a0001c0002t0001others(5): Show | a0001c0001t0001g0340a0001c0001t0001g0350a0001c0001t0026g0354others(43): Show | 46 | 360 | 0.1278 | 5 | c.186 others(22): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |