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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERC1_chr12_986223_1500931 | 1085610 | CATTATT | C | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0017 | a0001c0001t0019g0120a0002c0002t0017g0097 | 2 | 162 | 0.0124 | -6 | c.108 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1090866 | GTTATTA | G | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02258.hp1 others(5): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0008 | a0001c0001t0050a0001c0001t0061a0002c0002t0052others(5): Show | a0001c0001t0050g0144a0001c0001t0061g0153a0002c0002t0052g0154others(5): Show | 8 | 162 | 0.0494 | -6 | c.108 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1093957 | CTATATA | C | intron_variant | MODIFIER | HG02602.hp1 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0103a0002c0002t0038 | a0001c0001t0103g0132a0002c0002t0038g0082 | 2 | 162 | 0.0124 | -6 | c.108 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1099835 | ATTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01517.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0043a0001c0001t0045others(6): Show | a0001c0001t0008g0086a0001c0001t0043g0084a0001c0001t0045g0066others(6): Show | 9 | 162 | 0.0556 | -6 | c.108 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1119564 | TGTGTGA | T | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp2 HG02735.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0011 | a0001c0001t0011a0001c0001t0049a0001c0001t0068others(2): Show | a0001c0001t0011g0034a0001c0001t0049g0157a0001c0001t0068g0083others(2): Show | 5 | 162 | 0.0309 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122091 | GTCTCTA | G | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0075a0002c0002t0104a0002c0002t0140 | a0002c0002t0075g0073a0002c0002t0104g0043a0002c0002t0140g0108 | 3 | 162 | 0.0185 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122127 | GTCTCTA | G | intron_variant | MODIFIER | HG00738.hp2 HG02451.hp1 HG02717.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0112a0002c0002t0131a0002c0002t0136 | a0001c0001t0112g0052a0002c0002t0131g0065a0002c0002t0136g0100 | 3 | 162 | 0.0185 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122169 | GTCTCTA | G | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0099a0002c0002t0104 | a0001c0001t0001g0080a0002c0002t0099g0131a0002c0002t0104g0043 | 3 | 162 | 0.0185 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122301 | ATCTGTG | A | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0077a0002c0002t0002 | a0001c0001t0001g0080a0001c0001t0077g0012a0002c0002t0002g0087others(2): Show | 5 | 162 | 0.0309 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122337 | ATCTGTG | A | intron_variant | MODIFIER | HG01081.hp1 HG02717.hp1 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0013t0063a0002c0002t0070others(1): Show | a0001c0001t0001g0076a0001c0013t0063g0077a0002c0002t0070g0138others(1): Show | 4 | 162 | 0.0247 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122373 | GTCTCTA | G | intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0140a0002c0006t0051 | a0002c0002t0140g0108a0002c0006t0051g0081 | 2 | 162 | 0.0124 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122403 | ATCTGTG | A | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 HG03669.hp1 |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0013t0063a0002c0002t0070 | a0001c0001t0001g0076a0001c0013t0063g0077a0002c0002t0070g0138 | 3 | 162 | 0.0185 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122439 | GTCTCTA | G | intron_variant | MODIFIER | HG01361.hp2 HG02055.hp2 HG02886.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0023a0001c0001t0033others(4): Show | a0001c0001t0005g0041a0001c0001t0023g0162a0001c0001t0033g0111others(7): Show | 10 | 162 | 0.0617 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122475 | GTCTCTA | G | intron_variant | MODIFIER | HG01109.hp1 HG01358.hp2 HG01884.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(12): Show | a0001c0001t0001g0080a0002c0002t0001g0149a0002c0002t0001g0152others(14): Show | 17 | 162 | 0.1049 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122511 | ATCTGTG | A | intron_variant | MODIFIER | HG01361.hp2 HG02145.hp2 HG02895.hp1 others(4): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0008 | a0001c0001t0005a0001c0001t0023a0001c0001t0033others(4): Show | a0001c0001t0005g0041a0001c0001t0023g0162a0001c0001t0033g0111others(4): Show | 7 | 162 | 0.0432 | -6 | c.156 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1143329 | CGTGTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(29): Show |
a0001a0002a0007 | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(29): Show | a0001c0001t0001g0076a0001c0001t0004g0078a0001c0001t0013g0015others(29): Show | 32 | 162 | 0.1975 | -6 | c.173 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1154213 | GTATGTA | G | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01257.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0058a0001c0001t0069others(5): Show | a0001c0001t0007g0044a0001c0001t0007g0048a0001c0001t0058g0141others(6): Show | 9 | 162 | 0.0556 | -6 | c.173 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1179500 | CTTTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01192.hp2 HG01256.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0019a0001c0001t0028a0001c0001t0090others(7): Show | a0001c0001t0019g0120a0001c0001t0028g0129a0001c0001t0090g0032others(7): Show | 10 | 162 | 0.0617 | -6 | c.173 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1180253 | ATGTGTG | A | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp1 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0091a0002c0002t0038a0002c0002t0048 | a0001c0001t0091g0028a0002c0002t0038g0082a0002c0002t0048g0070 | 3 | 162 | 0.0185 | -6 | c.173 others(23): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1196905 | TACACAC | T | intron_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0097a0001c0001t0110a0001c0001t0111others(1): Show | a0001c0001t0097g0031a0001c0001t0110g0013a0001c0001t0111g0017others(1): Show | 4 | 162 | 0.0247 | -6 | c.235 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1196957 | CACACAT | C | intron_variant | MODIFIER | HG01081.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012 | a0001c0001t0008g0010a0001c0001t0012g0022 | 2 | 162 | 0.0124 | -6 | c.235 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1208957 | ATTTTTT | A | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG02129.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0056a0001c0001t0086others(8): Show | a0001c0001t0001g0080a0001c0001t0056g0085a0001c0001t0086g0060others(8): Show | 11 | 162 | 0.0679 | -6 | c.235 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1214661 | TACATAC | T | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02922.hp1 others(2): Show |
a0002a0009 | a0002c0002a0009c0008 | a0002c0002t0053a0002c0002t0054a0002c0002t0055others(2): Show | a0002c0002t0053g0136a0002c0002t0054g0135a0002c0002t0055g0137others(2): Show | 5 | 162 | 0.0309 | -6 | c.235 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1218833 | TACACAC | T | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01891.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0056a0002c0002t0038others(2): Show | a0001c0001t0001g0080a0001c0001t0056g0085a0002c0002t0038g0082others(2): Show | 5 | 162 | 0.0309 | -6 | c.235 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1228359 | AAAATAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp1 others(101): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(94): Show | a0001c0001t0001g0080a0001c0001t0003g0029a0001c0001t0005g0041others(101): Show | 104 | 162 | 0.6420 | -6 | c.235 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1266391 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0003a0001c0001t0020a0001c0001t0021others(27): Show | a0001c0001t0003g0029a0001c0001t0020g0113a0001c0001t0021g0116others(27): Show | 30 | 162 | 0.1852 | -6 | c.261 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1284265 | CGTGTGT | C | intron_variant | MODIFIER | HG01261.hp2 HG01952.hp2 HG03927.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0057a0001c0001t0069a0001c0001t0108others(2): Show | a0001c0001t0057g0156a0001c0001t0069g0092a0001c0001t0108g0064others(2): Show | 5 | 162 | 0.0309 | -6 | c.262 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1284304 | GTGTGTA | G | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0076 | a0002c0002t0002g0087a0002c0002t0002g0089a0002c0002t0002g0090others(2): Show | 5 | 162 | 0.0309 | -6 | c.262 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1289084 | TACACAC | T | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp2 HG01891.hp1 others(13): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0005a0001c0001t0021a0001c0001t0023others(13): Show | a0001c0001t0005g0041a0001c0001t0021g0116a0001c0001t0023g0162others(13): Show | 16 | 162 | 0.0988 | -6 | c.262 others(23): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1330442 | GTATTAT | G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0019a0001c0001t0020others(12): Show | a0001c0001t0011g0034a0001c0001t0019g0120a0001c0001t0020g0113others(12): Show | 15 | 162 | 0.0926 | -6 | c.278 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1356213 | AGTGTGT | A | intron_variant | MODIFIER | HG01109.hp2 HG01515.hp1 HG01517.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0026 | a0001c0001t0007g0044a0001c0001t0007g0048a0002c0002t0026g0115 | 3 | 162 | 0.0185 | -6 | c.278 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1374824 | ATTTTTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01257.hp1 others(36): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(34): Show | a0001c0001t0001g0076a0001c0001t0004g0078a0001c0001t0008g0086others(36): Show | 39 | 162 | 0.2407 | -6 | c.292 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1386031 | CTTTTTT | C | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02055.hp2 others(22): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0076a0001c0001t0004g0078a0001c0001t0005g0041others(22): Show | 25 | 162 | 0.1543 | -6 | c.292 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1393607 | CGTGTGT | C | intron_variant | MODIFIER | HG01346.hp2 HG01496.hp2 HG01515.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0093a0002c0002t0036others(9): Show | a0001c0001t0007g0044a0001c0001t0007g0048a0001c0001t0093g0008others(10): Show | 13 | 162 | 0.0803 | -6 | c.292 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1398955 | TTTTTTG | T | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp2 HG02109.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0030a0001c0001t0119a0002c0002t0001others(5): Show | a0001c0001t0030g0109a0001c0001t0119g0061a0002c0002t0001g0149others(7): Show | 10 | 162 | 0.0617 | -6 | c.292 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1400910 | TTTTGTA | T | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01256.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0028a0001c0001t0061a0001c0001t0103others(4): Show | a0001c0001t0028g0129a0001c0001t0061g0153a0001c0001t0103g0132others(4): Show | 7 | 162 | 0.0432 | -6 | c.292 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1402614 | AACACAC | A | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG02717.hp2 |
a0002a0005 | a0002c0002a0005c0010 | a0002c0002t0105a0002c0002t0136a0005c0010t0082 | a0002c0002t0105g0148a0002c0002t0136g0100a0005c0010t0082g0126 | 3 | 162 | 0.0185 | -6 | c.292 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1418583 | TTCTTTC | T | intron_variant | MODIFIER | HG01192.hp2 HG01515.hp1 HG01517.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0007a0003c0004t0096 | a0001c0001t0007g0044a0001c0001t0007g0048a0003c0004t0096g0063 | 3 | 162 | 0.0185 | -6 | c.302 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1418631 | CTTTCTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0053a0002c0002t0054a0002c0002t0055others(1): Show | a0002c0002t0053g0136a0002c0002t0054g0135a0002c0002t0055g0137others(1): Show | 4 | 162 | 0.0247 | -6 | c.302 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1436988 | GTACTTA | G | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02717.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0052a0002c0002t0053others(7): Show | a0001c0001t0005g0041a0002c0002t0052g0154a0002c0002t0053g0136others(7): Show | 10 | 162 | 0.0617 | -6 | c.302 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1440600 | TTGTGTG | T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01175.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0008a0001c0001t0009a0001c0001t0013others(18): Show | a0001c0001t0008g0086a0001c0001t0009g0007a0001c0001t0013g0015others(18): Show | 21 | 162 | 0.1296 | -6 | c.302 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1457323 | AAAACAG | A | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG03209.hp1 |
a0002a0005 | a0002c0002a0005c0010 | a0002c0002t0104a0002c0002t0105a0005c0010t0082 | a0002c0002t0104g0043a0002c0002t0105g0148a0005c0010t0082g0126 | 3 | 162 | 0.0185 | -6 | c.321 others(27): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1487372 | ATTTTTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02572.hp1 others(11): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0074a0002c0002t0002a0002c0002t0016others(8): Show | a0001c0001t0074g0039a0002c0002t0002g0087a0002c0002t0002g0089others(11): Show | 14 | 162 | 0.0864 | -6 | c.321 others(25): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 55515312 | TTATTAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011 | a0001c0001t0002g0005a0001c0001t0002g0021a0001c0001t0002g0040others(3): Show | 6 | 74 | 0.0811 | -6 | c.*40 others(23): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55613982 | CAAAAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01169.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0041a0001c0001t0001g0048others(8): Show | 11 | 74 | 0.1487 | -6 | c.*39 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55653564 | AGTGTGT | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0033a0001c0001t0001g0041a0001c0001t0001g0048others(11): Show | 14 | 74 | 0.1892 | -6 | c.*39 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55675897 | TTCTTTC | T | intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 HG03710.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0061a0001c0001t0002g0012a0001c0001t0002g0029others(2): Show | 5 | 74 | 0.0676 | -6 | c.*39 others(23): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55713122 | CTCTCTG | C | intron_variant | MODIFIER | HG02723.hp2 HG02965.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0002g0057a0001c0001t0002g0072a0001c0001t0005g0063others(2): Show | 5 | 74 | 0.0676 | -6 | c.271 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55733527 | TTCTTTC | T | intron_variant | MODIFIER | HG03834.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0055 | 2 | 74 | 0.0270 | -6 | c.271 others(25): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55808701 | TTATATA | T | intron_variant | MODIFIER | HG00741.hp1 HG02040.hp1 HG02040.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0038a0001c0001t0002g0032a0001c0001t0002g0066others(4): Show | 7 | 74 | 0.0946 | -6 | c.256 others(27): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar |