| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCSER1_chr4_90122394_91610295 | 90815526 | A | ATGTGTG | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0027a0001c0001t0003g0034a0001c0001t0007g0036others(3): Show | 6 | 38 | 0.1579 | 6 | c.201 others(23): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 90933132 | A | AGTGTGT | intron_variant | MODIFIER | HG02809.hp2 HG02897.hp2 HG03516.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0008a0001c0003t0002a0002c0002t0006 | a0001c0001t0008g0038a0001c0003t0002g0026a0002c0002t0006g0025 | 3 | 38 | 0.0790 | 6 | c.217 others(25): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 90937480 | A | AACACAC | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG02897.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0001c0001t0015a0002c0002t0006others(1): Show | a0001c0001t0003g0031a0001c0001t0015g0019a0002c0002t0006g0025others(1): Show | 4 | 38 | 0.1053 | 6 | c.217 others(27): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 91115841 | T | TTATATA | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02897.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0001c0001t0020a0002c0002t0006others(1): Show | a0001c0001t0003g0034a0001c0001t0020g0033a0002c0002t0006g0025others(1): Show | 4 | 38 | 0.1053 | 6 | c.221 others(27): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 91246827 | T | TACACAC | intron_variant | MODIFIER | HG01099.hp1 HG02109.hp2 HG02723.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0003t0002others(2): Show | a0001c0001t0001g0032a0001c0001t0014g0028a0001c0003t0002g0015others(2): Show | 5 | 38 | 0.1316 | 6 | c.221 others(29): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 91247911 | A | ACGAACC | intron_variant | MODIFIER | HG03209.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0036a0001c0001t0013g0035 | 2 | 38 | 0.0526 | 6 | c.221 others(29): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 91257472 | T | TACACAC | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG02897.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0003t0002others(2): Show | a0001c0001t0003g0034a0001c0001t0009g0037a0001c0003t0002g0026others(2): Show | 5 | 38 | 0.1316 | 6 | c.221 others(29): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 91446668 | A | AATATAT | intron_variant | MODIFIER | HG02809.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0008 | a0001c0001t0008g0038a0002c0002t0008g0030 | 2 | 38 | 0.0526 | 6 | c.221 others(29): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 91446672 | A | AATATAT | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0001g0032others(3): Show | 6 | 38 | 0.1579 | 6 | c.221 others(29): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 91490873 | C | CATATAT | intron_variant | MODIFIER | HG01884.hp2 HG03017.hp2 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0017a0002c0002t0018 | a0001c0001t0005g0017a0002c0002t0017g0008a0002c0002t0018g0009 | 3 | 38 | 0.0790 | 6 | c.221 others(29): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 91496564 | G | GTATATA | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG03130.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0032a0001c0001t0004g0005a0001c0001t0013g0035others(1): Show | 4 | 38 | 0.1053 | 6 | c.221 others(29): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84326635 | G | GCATTAT | upstream_gene_variant | MODIFIER | HG01257.hp1 HG03688.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0342a0001c0001t0012g0343a0001c0001t0012g0344others(2): Show | 5 | 370 | 0.0135 | 6 | c.-22 others(17): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 1953 | chr10 | TogoVar | ||||||
| CCSER2_chr10_84323589_84523517 | 84335226 | C | CTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG01928.hp2 HG01993.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005a0002c0002t0010 | a0002c0002t0003g0103a0002c0002t0003g0131a0002c0002t0003g0132others(9): Show | 12 | 370 | 0.0324 | 6 | c.-40 others(23): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84385004 | A | AACACAC | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(53): Show |
a0002a0013a0014others(1): Show | a0002c0002a0002c0003a0013c0018others(2): Show | a0002c0002t0003a0002c0002t0016a0002c0002t0017others(4): Show | a0002c0002t0003g0102a0002c0002t0003g0103a0002c0002t0003g0104others(53): Show | 56 | 370 | 0.1514 | 6 | c.161 others(27): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84394385 | A | ATGTGTG | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(37): Show |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0215a0001c0001t0001g0221a0001c0001t0001g0223others(37): Show | 40 | 370 | 0.1081 | 6 | c.161 others(27): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84428985 | G | GTATATA | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG03516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0338a0001c0001t0004g0148a0001c0001t0004g0158others(3): Show | 6 | 370 | 0.0162 | 6 | c.186 others(25): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84457737 | G | GTTTGTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0006a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(31): Show | a0001c0001t0001g0204a0001c0001t0001g0212a0001c0001t0001g0215others(258): Show | 262 | 370 | 0.7081 | 6 | c.206 others(25): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84484489 | A | ATGTGTG | intron_variant | MODIFIER | HG01496.hp2 HG02056.hp2 HG02074.hp2 others(11): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0012a0002c0003t0006g0013a0002c0003t0006g0014others(11): Show | 14 | 370 | 0.0378 | 6 | c.232 others(25): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | chr10 | TogoVar | ||||||
| CCSER2_chr10_84323589_84523517 | 84484490 | C | CGTGTGT | intron_variant | MODIFIER | HG02055.hp1 HG02056.hp1 HG02559.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0002c0002t0010a0003c0004t0007others(1): Show | a0001c0001t0002g0040a0001c0001t0002g0333a0002c0002t0010g0144others(8): Show | 11 | 370 | 0.0297 | 6 | c.232 others(25): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84484497 | G | GTGTGTA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00738.hp1 others(24): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0014a0002c0002t0015 | a0002c0002t0005g0075a0002c0002t0005g0076a0002c0002t0005g0077others(24): Show | 27 | 370 | 0.0730 | 6 | c.232 others(25): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCS_chr11_66588185_66611019 | 66608906 | A | AAATAAT | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01192.hp2 HG01243.hp2 others(48): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(28): Show | 51 | 404 | 0.1262 | 6 | c.*30 others(17): Show |
CCS | ENSG00000173992.9 | transcript | ENST00000533244.6 | protein_coding | 2888 | chr11 | TogoVar | ||||||
| CCT4_chr2_61863085_61893656 | 61883773 | G | GACAGAC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(96): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0001c0010others(2): Show | a0001c0001t0001a0001c0009t0001a0001c0010t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(51): Show | 99 | 414 | 0.2391 | 6 | c.181 others(21): Show |
CCT4 | ENSG00000115484.15 | transcript | ENST00000394440.8 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
| CCT4_chr2_61863085_61893656 | 61889202 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01099.hp1 others(18): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0002t0002a0004c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0040a0001c0001t0001g0041others(13): Show | 21 | 414 | 0.0507 | 6 | c.-70 others(15): Show |
CCT4 | ENSG00000115484.15 | transcript | ENST00000394440.8 | protein_coding | 547 | chr2 | TogoVar | ||||||
| CCT6B_chr17_34922861_34966460 | 34953318 | A | AATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0022a0001c0001t0001g0164others(4): Show | 17 | 402 | 0.0423 | 6 | c.510 others(23): Show |
CCT6B | ENSG00000132141.14 | transcript | ENST00000314144.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
| CCT7_chr2_73229308_73258005 | 73252324 | G | GATATAT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01891.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0025a0001c0001t0001g0027others(10): Show | 22 | 378 | 0.0582 | 6 | c.141 others(23): Show |
CCT7 | ENSG00000135624.17 | transcript | ENST00000258091.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CCT8L2_chr22_16585751_16597810 | 16588623 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0006a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0006t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0007g0000a0001c0006t0001g0000others(4): Show | 182 | 432 | 0.4213 | 6 | c.*22 others(17): Show |
CCT8L2 | ENSG00000198445.4 | transcript | ENST00000359963.4 | protein_coding | 2127 | chr22 | TogoVar | ||||||
| CCZ1B_chr7_6793937_6831275 | 6803946 | T | TAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(94): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0002g0005a0001c0001t0002g0024a0001c0001t0002g0025others(89): Show | 97 | 354 | 0.2740 | 6 | c.110 others(23): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 12/14 | chr7 | TogoVar | ||||||
| CCZ1B_chr7_6793937_6831275 | 6819123 | G | GAAAAAA | intron_variant | MODIFIER | HG02027.hp2 HG02055.hp2 HG02080.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0010a0001c0001t0016others(1): Show | a0001c0001t0002g0218a0001c0001t0002g0219a0001c0001t0002g0220others(12): Show | 15 | 354 | 0.0424 | 6 | c.698 others(21): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 7/14 | chr7 | TogoVar | ||||||
| CCZ1B_chr7_6793937_6831275 | 6820108 | A | ACTCAGT | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01109.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0005t0006others(3): Show | a0001c0001t0004g0183a0001c0001t0004g0184a0001c0001t0004g0185others(10): Show | 13 | 354 | 0.0367 | 6 | c.523 others(21): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 6/14 | chr7 | TogoVar | ||||||
| CCZ1B_chr7_6793937_6831275 | 6828278 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG02080.hp1 HG02132.hp2 HG02293.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0196a0001c0001t0002g0200a0001c0001t0002g0201others(5): Show | 8 | 354 | 0.0226 | 6 | c.-20 others(17): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 2004 | chr7 | TogoVar | ||||||
| CCZ1B_chr7_6793937_6831275 | 6830711 | G | GACACAC | upstream_gene_variant | MODIFIER | HG02004.hp2 HG02148.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0014 | a0001c0001t0002g0194a0001c0001t0002g0273a0001c0001t0006g0076others(1): Show | 4 | 354 | 0.0113 | 6 | c.-45 others(17): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 4437 | chr7 | TogoVar | ||||||
| CCZ1_chr7_5893733_5931550 | 5910710 | A | ATTTTAT | intron_variant | MODIFIER | HG01081.hp1 HG03471.hp1 HG03486.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0001 | a0001c0001t0020g0051a0002c0002t0001g0032a0002c0002t0001g0084 | 3 | 114 | 0.0263 | 6 | c.780 others(21): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CCZ1_chr7_5893733_5931550 | 5927045 | G | GTGTGTA | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02965.hp2 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0003a0003c0003t0010 | a0002c0002t0001g0047a0002c0002t0001g0071a0002c0002t0001g0072others(5): Show | 9 | 114 | 0.0790 | 6 | c.*13 others(17): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 496 | chr7 | TogoVar | ||||||
| CCZ1_chr7_5893733_5931550 | 5927070 | A | ATATGTG | downstream_gene_variant | MODIFIER | HG03471.hp2 NA18939.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076a0002c0002t0001g0091 | 2 | 114 | 0.0175 | 6 | c.*13 others(17): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 521 | chr7 | TogoVar | ||||||
| CD101_chr1_116996760_117041552 | 116997307 | C | CTTCTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(81): Show |
a0001a0003a0007others(4): Show | a0001c0002a0001c0003a0001c0038others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0002t0001g0006a0001c0002t0001g0008a0001c0002t0001g0009others(76): Show | 84 | 426 | 0.1972 | 6 | c.-45 others(17): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 4452 | chr1 | TogoVar | ||||||
| CD101_chr1_116996760_117041552 | 117014185 | T | TTGTGTG | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00673.hp2 others(26): Show |
a0001a0016 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0189a0001c0001t0001g0220a0001c0001t0003g0221others(23): Show | 29 | 426 | 0.0681 | 6 | c.122 others(23): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CD101_chr1_116996760_117041552 | 117014228 | T | TGTGTGA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(55): Show |
a0001a0007a0008 | a0001c0002a0001c0003a0001c0038others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(4): Show | a0001c0002t0001g0008a0001c0002t0001g0009a0001c0002t0001g0010others(51): Show | 58 | 426 | 0.1362 | 6 | c.122 others(23): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CD101_chr1_116996760_117041552 | 117028102 | T | TAAAATA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01123.hp1 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0368a0001c0001t0001g0369a0001c0002t0001g0040others(11): Show | 14 | 426 | 0.0329 | 6 | c.282 others(25): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73707962 | T | TTATATA | intron_variant | MODIFIER | HG03098.hp2 HG03195.hp1 NA18522.hp2 others(4): Show |
a0003a0004a0005others(2): Show | a0003c0004a0004c0005a0005c0006others(2): Show | a0003c0004t0003a0003c0004t0023a0004c0005t0008others(4): Show | a0003c0004t0003g0331a0003c0004t0023g0290a0004c0005t0008g0033others(4): Show | 7 | 362 | 0.0193 | 6 | c.247 others(25): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73725504 | C | CTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00609.hp2 others(34): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0012a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0028others(13): Show | a0001c0001t0001g0222a0001c0001t0001g0278a0001c0001t0001g0313others(34): Show | 37 | 362 | 0.1022 | 6 | c.276 others(23): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73729335 | A | AGTGTGT | intron_variant | MODIFIER | NA18950.hp2 NA18974.hp1 NA18975.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0010 | a0002c0002t0014a0003c0010t0001 | a0002c0002t0014g0206a0002c0002t0014g0275a0002c0002t0014g0309others(2): Show | 5 | 362 | 0.0138 | 6 | c.277 others(21): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73729491 | G | GTTATTA | intron_variant | MODIFIER | HG01169.hp2 HG02486.hp2 HG02559.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0002a0003c0004t0003others(3): Show | a0001c0001t0001g0189a0002c0002t0002g0087a0002c0002t0002g0165others(8): Show | 11 | 362 | 0.0304 | 6 | c.277 others(21): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73791134 | T | TACACAC | intron_variant | MODIFIER | HG00408.hp2 HG02895.hp2 HG03209.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0007a0006c0036 | a0001c0001t0005a0001c0001t0050a0006c0007t0009others(2): Show | a0001c0001t0005g0266a0001c0001t0050g0012a0006c0007t0009g0149others(2): Show | 5 | 362 | 0.0138 | 6 | c.270 others(25): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 22/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73802255 | A | ATGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG02809.hp2 HG03209.hp2 others(6): Show |
a0006 | a0006c0007a0006c0036 | a0006c0007t0009a0006c0007t0017a0006c0007t0046others(1): Show | a0006c0007t0009g0118a0006c0007t0009g0149a0006c0007t0009g0187others(6): Show | 9 | 362 | 0.0249 | 6 | c.287 others(23): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 23/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73802289 | G | GTGTGTA | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01243.hp1 others(9): Show |
a0004a0007 | a0004c0005a0007c0009 | a0004c0005t0007a0004c0005t0012a0007c0009t0002 | a0004c0005t0007g0092a0004c0005t0007g0166a0004c0005t0007g0195others(9): Show | 12 | 362 | 0.0332 | 6 | c.287 others(23): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 23/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73803689 | T | TTGTGTG | intron_variant | MODIFIER | HG00423.hp2 HG02083.hp2 HG02109.hp2 others(9): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0004a0004c0005others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(7): Show | a0001c0001t0001g0219a0001c0001t0011g0141a0001c0001t0021g0238others(9): Show | 12 | 362 | 0.0332 | 6 | c.296 others(23): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 24/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD163L1_chr12_7349960_7449153 | 7363418 | A | AAATAAT | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01074.hp2 others(41): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0138a0001c0001t0001g0141a0001c0001t0001g0142others(38): Show | 44 | 384 | 0.1146 | 6 | c.427 others(25): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 18/19 | chr12 | TogoVar | ||||||
| CD163L1_chr12_7349960_7449153 | 7375582 | G | GACAGAT | disruptive_inframe_insertion | MODERATE | NA18747.hp1 NA18979.hp2 NA18998.hp1 others(2): Show |
a0007 | a0007c0010 | a0007c0010t0001a0007c0010t0003 | a0007c0010t0001g0014a0007c0010t0001g0174a0007c0010t0001g0176others(1): Show | 5 | 384 | 0.0130 | 6 | c.269 others(15): Show |
p.Val others(19): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 11/20 | 2725/4583 | 2699/4362 | 900/1453 | chr12 | TogoVar | ||
| CD163L1_chr12_7349960_7449153 | 7389960 | T | TTATATA | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00735.hp2 others(48): Show |
a0001a0004 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0088a0001c0001t0001g0099others(46): Show | 51 | 384 | 0.1328 | 6 | c.205 others(25): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 8/19 | chr12 | TogoVar | ||||||
| CD163L1_chr12_7349960_7449153 | 7421486 | T | TATATAC | intron_variant | MODIFIER | HG02135.hp1 NA18948.hp2 NA18956.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0008a0001c0002t0001g0009a0001c0002t0001g0104others(2): Show | 7 | 384 | 0.0182 | 6 | c.766 others(25): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 4/19 | chr12 | TogoVar |