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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EP300_chr22_41087592_41185077 | 41143609 | TTTGTCAC others(3): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0020 | a0004c0020t0007 | a0004c0020t0007g0186 | 1 | 300 | 0.0033 | -10 | c.205 others(29): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 10/30 | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41154376 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0108 | 1 | 300 | 0.0033 | -10 | c.314 others(27): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41167580 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0007 | a0001c0007t0067 | a0001c0007t0067g0192 | 1 | 300 | 0.0033 | -10 | c.387 others(27): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41167582 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0014 | a0001c0002t0013g0166a0001c0002t0014g0167 | 2 | 300 | 0.0067 | -10 | c.387 others(27): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41167584 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | NA18992.hp2 NA18993.hp2 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0002c0003t0018 | a0001c0001t0002g0222a0001c0001t0004g0257a0002c0003t0018g0138 | 3 | 300 | 0.0100 | -10 | c.387 others(27): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41179880 | TCACACAC others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG02148.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0005a0001c0001t0025a0001c0002t0005others(6): Show | a0001c0001t0005g0210a0001c0001t0005g0270a0001c0001t0025g0188others(19): Show | 22 | 300 | 0.0733 | -10 | c.*95 others(19): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 958 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
EP400_chr12_131944942_132085460 | 132025065 | TAAAACAA others(3): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0029 | a0005c0029t0001 | a0005c0029t0001g0077 | 1 | 208 | 0.0048 | -10 | c.485 others(27): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EPAS1_chr2_46292407_46391697 | 46332291 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02630.hp2 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0043 | a0001c0001t0001g0134a0002c0002t0043g0037 | 2 | 326 | 0.0061 | -10 | c.27- others(27): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPB41L1_chr20_36149740_36237799 | 36188581 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG03831.hp1 HG04204.hp1 NA18747.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0174a0001c0001t0002g0012a0001c0001t0002g0103 | 4 | 236 | 0.0170 | -10 | c.102 others(27): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EPB41L1_chr20_36149740_36237799 | 36188633 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 236 | 0.0042 | -10 | c.102 others(27): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EPB41L1_chr20_36149740_36237799 | 36188635 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0062 | 1 | 236 | 0.0042 | -10 | c.102 others(27): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EPB41L1_chr20_36149740_36237799 | 36188637 | CACACAGA others(3): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0009 | 2 | 236 | 0.0085 | -10 | c.102 others(27): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EPB41L1_chr20_36149740_36237799 | 36232816 | CCTCTCTC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0005 | a0001c0005t0019 | a0001c0005t0019g0114 | 1 | 236 | 0.0042 | -10 | c.*34 others(21): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 18 | chr20 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130848166 | GTCTCTGT others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 356 | 0.0028 | -10 | c.*6- others(25): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 19/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130848193 | TCTCTCTC others(3): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 356 | 0.0028 | -10 | c.*6- others(25): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 19/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130848197 | TCTCACAC others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01257.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0120a0001c0002t0002g0007a0001c0002t0002g0058others(29): Show | 32 | 356 | 0.0899 | -10 | c.*6- others(25): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 19/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130848199 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02615.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0345a0001c0002t0002g0072a0001c0002t0002g0073 | 3 | 356 | 0.0084 | -10 | c.*6- others(25): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 19/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130867970 | ACACTCTC others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00609.hp1 others(45): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0002g0328a0001c0001t0003g0108a0001c0001t0003g0160others(45): Show | 48 | 356 | 0.1348 | -10 | c.260 others(27): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 15/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130929857 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 356 | 0.0028 | -10 | c.706 others(27): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130929888 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01099.hp2 HG01123.hp2 others(15): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0279a0001c0001t0001g0302a0001c0001t0001g0310others(15): Show | 18 | 356 | 0.0506 | -10 | c.706 others(27): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130944158 | TACATACA others(3): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0113a0001c0001t0002g0124a0001c0001t0002g0125others(6): Show | 9 | 356 | 0.0253 | -10 | c.705 others(29): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130951312 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 356 | 0.0028 | -10 | c.705 others(27): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130974712 | CTTTTCTT others(3): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0098 | 1 | 356 | 0.0028 | -10 | c.-14 others(29): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 131016477 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG02109.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0151a0001c0001t0002g0100a0001c0001t0002g0120others(27): Show | 30 | 356 | 0.0843 | -10 | c.-15 others(29): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 131054330 | ATCTGTCC others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(44): Show |
a0001a0005a0010 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0132a0001c0001t0001g0136others(44): Show | 47 | 356 | 0.1320 | -10 | c.-15 others(27): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 131066683 | CCACACAC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(59): Show |
a0001a0003a0007 | a0001c0001a0001c0015a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0250a0001c0001t0001g0252a0001c0001t0001g0253others(59): Show | 62 | 356 | 0.1742 | -10 | c.-35 others(21): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3439 | chr6 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5389994 | TAAAAAAA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0010a0002c0003t0002 | a0001c0001t0002g0086a0001c0002t0010g0031a0002c0003t0002g0009others(2): Show | 5 | 222 | 0.0225 | -10 | c.*34 others(21): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2391 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5396493 | GTCTCCTG others(3): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG03654.hp2 HG03704.hp1 |
a0001a0003a0009 | a0001c0001a0003c0004a0009c0023 | a0001c0001t0005a0003c0004t0005a0009c0023t0005 | a0001c0001t0005g0168a0003c0004t0005g0107a0009c0023t0005g0014 | 3 | 222 | 0.0135 | -10 | c.284 others(27): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5484086 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008a0001c0002t0002g0164 | 2 | 222 | 0.0090 | -10 | c.183 others(27): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5508766 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 | 1 | 222 | 0.0045 | -10 | c.-11 others(29): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5541252 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 222 | 0.0045 | -10 | c.-12 others(27): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5545873 | CTGTGTGT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01175.hp2 HG01192.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0001g0021a0001c0001t0001g0116a0001c0001t0001g0182others(30): Show | 33 | 222 | 0.1487 | -10 | c.-19 others(21): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1877 | chr18 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112234184 | TTAAAATA others(3): Show |
T | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0222 | 1 | 228 | 0.0044 | -10 | c.108 others(27): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 12/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112293366 | TTTTAATT others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02055.hp2 HG02145.hp1 others(12): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0028a0001c0002t0002a0001c0002t0031others(10): Show | a0001c0001t0028g0014a0001c0002t0002g0058a0001c0002t0002g0061others(12): Show | 15 | 228 | 0.0658 | -10 | c.205 others(29): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 2/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112330178 | CTCAGGTC others(3): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0059 | 1 | 228 | 0.0044 | -10 | c.100 others(29): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112345776 | TATATACA others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 228 | 0.0044 | -10 | c.100 others(29): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112345778 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG02258.hp1 HG02630.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0003others(3): Show | a0001c0001t0001g0086a0001c0002t0001g0205a0002c0003t0003g0096others(3): Show | 6 | 228 | 0.0263 | -10 | c.100 others(29): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112345780 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01099.hp2 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0007others(2): Show | a0001c0001t0007a0001c0001t0018a0001c0001t0037others(9): Show | a0001c0001t0007g0147a0001c0001t0018g0021a0001c0001t0018g0051others(13): Show | 16 | 228 | 0.0702 | -10 | c.100 others(29): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112380792 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(81): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(32): Show | a0001c0001t0001g0103a0001c0001t0001g0144a0001c0001t0001g0148others(81): Show | 84 | 228 | 0.3684 | -10 | c.99+ others(27): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112408709 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 228 | 0.0044 | -10 | c.99+ others(27): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112420412 | AGGACTGA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG03669.hp1 |
a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0223a0001c0002t0025g0224 | 2 | 228 | 0.0088 | -10 | c.-13 others(21): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1136 | chr5 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109175468 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01261.hp1 HG02145.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0012t0020others(2): Show | a0001c0001t0002g0157a0001c0001t0002g0206a0001c0002t0003g0249others(3): Show | 6 | 318 | 0.0189 | -10 | c.263 others(27): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 25/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109176040 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01256.hp2 others(20): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0002t0001a0001c0004t0001others(12): Show | a0001c0001t0003g0259a0001c0002t0001g0101a0001c0004t0001g0111others(20): Show | 23 | 318 | 0.0723 | -10 | c.263 others(27): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 25/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109266968 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02976.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0016a0002c0005 | a0001c0002t0005a0001c0002t0012a0001c0002t0022others(2): Show | a0001c0002t0005g0191a0001c0002t0012g0209a0001c0002t0022g0079others(2): Show | 5 | 318 | 0.0157 | -10 | c.533 others(25): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 4/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109276154 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01109.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0015others(10): Show | a0001c0001t0001g0117a0001c0001t0002g0141a0001c0001t0002g0175others(14): Show | 17 | 318 | 0.0535 | -10 | c.411 others(27): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 2/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109288722 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG02056.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0004 | a0001c0001t0013g0235a0001c0002t0004g0054 | 2 | 318 | 0.0063 | -10 | c.307 others(27): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 1/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109294672 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0059 | 1 | 318 | 0.0031 | -10 | c.307 others(29): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 1/25 | chr9 | TogoVar | ||||||
EPB41L5_chr2_120008077_120184119 | 120042995 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(44): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0002g0046a0001c0001t0002g0060a0001c0001t0002g0091others(44): Show | 47 | 278 | 0.1691 | -10 | c.285 others(25): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPB41L5_chr2_120008077_120184119 | 120054530 | TTCTCACT others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | 278 | 0.9892 | -10 | c.285 others(29): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | TogoVar | ||||||
EPB41L5_chr2_120008077_120184119 | 120069128 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 278 | 0.0036 | -10 | c.286 others(27): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |