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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COG3_chr13_45459939_45541701 | 45512108 | CTTG | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0124a0001c0001t0001g0131others(1): Show | 4 | 342 | 0.0117 | -3 | c.180 others(20): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45521802 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(215): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0040a0001c0001t0001g0041others(212): Show | 218 | 342 | 0.6374 | -3 | c.215 others(22): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45531107 | TAAG | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(68): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0002a0002c0007t0002 | a0002c0003t0002g0005a0002c0003t0002g0006a0002c0003t0002g0007others(65): Show | 71 | 342 | 0.2076 | -3 | c.245 others(20): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45540281 | GCCT | G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(46): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(3): Show | a0001c0001t0001g0055a0001c0001t0001g0115a0001c0001t0001g0119others(46): Show | 49 | 342 | 0.1433 | -3 | c.*55 others(14): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 3581 | chr13 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70495228 | TAAA | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014a0001c0003t0001g0015a0001c0003t0001g0016others(7): Show | 10 | 354 | 0.0283 | -3 | c.164 others(22): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 12/18 | chr16 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70525059 | TCTC | T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240a0001c0001t0002g0241a0001c0001t0002g0242others(4): Show | 7 | 354 | 0.0198 | -3 | c.-15 others(14): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 1506 | chr16 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70528464 | CTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(140): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0001g0040others(139): Show | 143 | 354 | 0.4040 | -3 | c.-49 others(14): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 4911 | chr16 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39651677 | CTTT | C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01257.hp2 HG01934.hp2 others(20): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0149others(20): Show | 23 | 370 | 0.0622 | -3 | c.-40 others(14): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 3984 | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39651966 | ACTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(208): Show | 223 | 370 | 0.6027 | -3 | c.-37 others(14): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 3695 | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39678919 | GTTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(220): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0006t0003others(16): Show | a0001c0001t0003g0001a0001c0001t0003g0003a0001c0001t0003g0004others(214): Show | 223 | 370 | 0.6027 | -3 | c.541 others(18): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39725705 | ATAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(116): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(111): Show | 119 | 370 | 0.3216 | -3 | c.174 others(22): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG7_chr16_23383493_23458189 | 23426835 | AAAG | A | intron_variant | MODIFIER | HG01516.hp1 HG02257.hp1 HG02965.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0002a0001c0001t0005a0004c0011t0007 | a0001c0001t0002g0005a0001c0001t0002g0023a0001c0001t0002g0024others(10): Show | 14 | 272 | 0.0515 | -3 | c.811 others(20): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 6/16 | chr16 | TogoVar | ||||||
COL10A1_chr6_116113909_116131132 | 116114533 | GGGA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0002c0002t0001g0002others(7): Show | 44 | 422 | 0.1043 | -3 | c.*55 others(14): Show |
COL10A1 | ENSG00000123500.10 | transcript | ENST00000651968.1 | protein_coding | 4375 | chr6 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102954849 | TAAA | T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp2 others(19): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0006a0001c0008others(5): Show | a0001c0002t0001a0001c0006t0001a0001c0008t0006others(6): Show | a0001c0002t0001g0095a0001c0006t0001g0017a0001c0006t0001g0035others(19): Show | 22 | 184 | 0.1196 | -3 | c.316 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 41/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102956709 | ATAT | A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0155a0001c0002t0003g0019a0001c0002t0003g0020others(11): Show | 14 | 184 | 0.0761 | -3 | c.316 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 41/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102960259 | CTTG | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02451.hp2 |
a0004 | a0004c0012 | a0004c0012t0003 | a0004c0012t0003g0010a0004c0012t0003g0011a0004c0012t0003g0012 | 3 | 184 | 0.0163 | -3 | c.316 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 41/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103005900 | CCAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(132): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0005others(28): Show | a0001c0002t0002a0001c0002t0003a0001c0004t0004others(36): Show | a0001c0002t0002g0155a0001c0002t0003g0019a0001c0002t0003g0020others(132): Show | 135 | 184 | 0.7337 | -3 | c.179 others(18): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 17/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103006526 | ATTT | A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02976.hp1 others(2): Show |
a0001a0019 | a0001c0008a0019c0020 | a0001c0008t0006a0019c0020t0001 | a0001c0008t0006g0002a0001c0008t0006g0004a0001c0008t0006g0005others(2): Show | 5 | 184 | 0.0272 | -3 | c.168 others(20): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 15/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103035820 | GTTT | G | intron_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG01243.hp1 others(24): Show |
a0001a0002a0008others(1): Show | a0001c0002a0002c0001a0002c0033others(2): Show | a0001c0002t0002a0001c0002t0003a0002c0001t0001others(4): Show | a0001c0002t0002g0155a0001c0002t0003g0019a0001c0002t0003g0020others(24): Show | 27 | 184 | 0.1467 | -3 | c.652 others(20): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103048477 | ATTC | A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0155a0001c0002t0003g0019a0001c0002t0003g0020others(11): Show | 14 | 184 | 0.0761 | -3 | c.652 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103065522 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0024a0003c0023others(4): Show | a0001c0005t0005a0001c0005t0012a0002c0024t0002others(5): Show | a0001c0005t0005g0061a0001c0005t0005g0070a0001c0005t0005g0071others(13): Show | 16 | 184 | 0.0870 | -3 | c.651 others(20): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103070209 | AAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(89): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0006others(15): Show | a0001c0002t0001a0001c0002t0003a0001c0004t0004others(22): Show | a0001c0002t0001g0069a0001c0002t0001g0095a0001c0002t0003g0048others(89): Show | 92 | 184 | 0.5000 | -3 | c.651 others(20): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A2_chr6_33157694_33197467 | 33183925 | GCTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00738.hp2 others(50): Show |
a0001a0006a0015 | a0001c0001a0001c0014a0006c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0020others(13): Show | 53 | 367 | 0.1444 | -3 | c.111 others(20): Show |
COL11A2 | ENSG00000204248.12 | transcript | ENST00000341947.7 | protein_coding | 8/65 | chr6 | TogoVar | ||||||
COL11A2_chr6_33157694_33197467 | 33194113 | CCTT | C | upstream_gene_variant | MODIFIER | HG03017.hp1 HG03490.hp1 HG03492.hp2 |
a0001a0015 | a0001c0014a0015c0016 | a0001c0014t0001a0015c0016t0001 | a0001c0014t0001g0049a0015c0016t0001g0145 | 3 | 367 | 0.0082 | -3 | c.-18 others(14): Show |
COL11A2 | ENSG00000204248.12 | transcript | ENST00000341947.7 | protein_coding | 1647 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75094115 | CCTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01261.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0038a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0038t0004others(5): Show | a0001c0001t0001g0074a0001c0001t0001g0081a0001c0001t0001g0103others(23): Show | 27 | 206 | 0.1311 | -3 | c.864 others(20): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 60/65 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75095623 | CAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02559.hp2 others(24): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0035a0002c0054others(13): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(17): Show | a0001c0001t0003g0139a0001c0001t0003g0150a0001c0001t0004g0073others(23): Show | 27 | 206 | 0.1311 | -3 | c.857 others(20): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 59/65 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75153115 | ATAT | A | intron_variant | MODIFIER | HG03225.hp1 NA18522.hp1 |
a0003a0005 | a0003c0003a0005c0008 | a0003c0003t0016a0005c0008t0006 | a0003c0003t0016g0172a0005c0008t0006g0036 | 2 | 206 | 0.0097 | -3 | c.356 others(20): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 17/65 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75181216 | TTAA | T | splice_region_variant others(1): Show |
LOW | HG02976.hp1 HG03195.hp1 |
a0002a0005 | a0002c0017a0005c0016 | a0002c0017t0002a0005c0016t0006 | a0002c0017t0002g0037a0005c0016t0006g0028 | 2 | 206 | 0.0097 | -3 | c.189 others(16): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 10/65 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75182256 | AACG | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(137): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0005a0001c0019others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0004a0001c0001t0001g0046a0001c0001t0001g0051others(133): Show | 140 | 206 | 0.6796 | -3 | c.189 others(20): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 10/65 | chr6 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69803518 | TTGA | T | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG03098.hp2 |
a0001a0002 | a0001c0002a0002c0031 | a0001c0002t0008a0002c0031t0012 | a0001c0002t0008g0318a0001c0002t0008g0319a0002c0031t0012g0153 | 3 | 324 | 0.0093 | -3 | c.294 others(18): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69804809 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG02155.hp2 HG02165.hp2 others(29): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0007others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(8): Show | a0001c0002t0001g0249a0001c0002t0003g0246a0001c0002t0003g0247others(29): Show | 32 | 324 | 0.0988 | -3 | c.294 others(20): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69868119 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(88): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(20): Show | a0001c0001t0001g0036a0001c0001t0001g0040a0001c0001t0001g0060others(88): Show | 91 | 324 | 0.2809 | -3 | c.372 others(18): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 3/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69868310 | TGGC | T | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01167.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(9): Show | a0001c0001t0001g0025a0001c0001t0001g0111a0001c0001t0001g0200others(16): Show | 19 | 324 | 0.0586 | -3 | c.372 others(18): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 3/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69933135 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(141): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(26): Show | a0001c0001t0001g0011a0001c0001t0001g0025a0001c0001t0001g0031others(141): Show | 144 | 324 | 0.4444 | -3 | c.172 others(20): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 31/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120136959 | CAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02165.hp1 HG02258.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0002g0205others(14): Show | 17 | 218 | 0.0780 | -3 | c.-37 others(22): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120144190 | CTTG | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(55): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0081a0001c0001t0001g0103a0001c0001t0001g0113others(55): Show | 58 | 218 | 0.2661 | -3 | c.-37 others(20): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120207720 | TTTG | T | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02451.hp2 others(2): Show |
a0001a0004 | a0001c0003a0001c0013a0004c0008 | a0001c0003t0001a0001c0003t0002a0001c0013t0004others(1): Show | a0001c0003t0001g0064a0001c0003t0002g0084a0001c0013t0004g0071others(2): Show | 5 | 218 | 0.0229 | -3 | c.119 others(20): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 10/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120220813 | GTGA | G | intron_variant | MODIFIER | HG00639.hp1 HG03139.hp2 |
a0002 | a0002c0006 | a0002c0006t0002a0002c0006t0006 | a0002c0006t0002g0033a0002c0006t0006g0212 | 2 | 218 | 0.0092 | -3 | c.173 others(22): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120222912 | AAAC | A | intron_variant | MODIFIER | HG00639.hp1 HG03098.hp1 HG03139.hp2 others(1): Show |
a0002a0003 | a0002c0006a0003c0010 | a0002c0006t0002a0002c0006t0006a0003c0010t0002others(1): Show | a0002c0006t0002g0033a0002c0006t0006g0212a0003c0010t0002g0078others(1): Show | 4 | 218 | 0.0184 | -3 | c.173 others(22): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120251959 | ATTG | A | intron_variant | MODIFIER | HG00639.hp1 HG02622.hp1 HG02647.hp2 others(6): Show |
a0001a0002 | a0001c0007a0002c0006a0002c0017 | a0001c0007t0001a0001c0007t0002a0001c0007t0009others(3): Show | a0001c0007t0001g0083a0001c0007t0001g0216a0001c0007t0002g0066others(6): Show | 9 | 218 | 0.0413 | -3 | c.275 others(22): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 22/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120280903 | CTTT | C | splice_region_variant others(1): Show |
LOW | HG02896.hp1 HG02897.hp1 HG02976.hp1 others(2): Show |
a0002 | a0002c0002a0002c0033 | a0002c0002t0001a0002c0033t0001 | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0002t0001g0207others(2): Show | 5 | 218 | 0.0229 | -3 | c.368 others(16): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120294434 | CTTT | C | intron_variant | MODIFIER | HG01169.hp2 HG01261.hp2 HG02451.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0013a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0020a0001c0013t0004others(6): Show | a0001c0001t0002g0029a0001c0001t0002g0069a0001c0001t0002g0070others(12): Show | 15 | 218 | 0.0688 | -3 | c.423 others(22): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 34/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120315369 | TAAA | T | intron_variant | MODIFIER | HG01261.hp2 HG02071.hp1 HG02257.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0006others(2): Show | a0001c0001t0002a0001c0007t0009a0002c0006t0001others(2): Show | a0001c0001t0002g0016a0001c0001t0002g0091a0001c0001t0002g0215others(6): Show | 9 | 218 | 0.0413 | -3 | c.455 others(20): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99006623 | CCTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01358.hp2 HG02922.hp1 |
a0010a0020 | a0010c0012a0020c0046 | a0010c0012t0002a0020c0046t0007 | a0010c0012t0002g0087a0010c0012t0002g0277a0020c0046t0007g0004 | 3 | 310 | 0.0097 | -3 | c.135 others(22): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99006663 | CTCT | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(55): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0013a0002c0002others(15): Show | a0001c0001t0002a0001c0013t0001a0002c0002t0001others(16): Show | a0001c0001t0002g0059a0001c0001t0002g0070a0001c0013t0001g0064others(55): Show | 58 | 310 | 0.1871 | -3 | c.135 others(22): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99009179 | AACC | A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(55): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0013a0002c0002others(15): Show | a0001c0001t0002a0001c0013t0001a0002c0002t0001others(16): Show | a0001c0001t0002g0059a0001c0001t0002g0070a0001c0013t0001g0064others(55): Show | 58 | 310 | 0.1871 | -3 | c.135 others(22): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99020374 | ATCT | A | splice_region_variant others(1): Show |
LOW | NA18948.hp1 NA18950.hp2 NA18979.hp2 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0095a0003c0006t0001g0096a0003c0006t0001g0097others(1): Show | 4 | 310 | 0.0129 | -3 | c.164 others(16): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 11/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99034586 | TAAA | T | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01109.hp1 others(28): Show |
a0001a0002a0003others(11): Show | a0001c0013a0002c0002a0002c0003others(15): Show | a0001c0013t0001a0002c0002t0001a0002c0003t0002others(18): Show | a0001c0013t0001g0015a0002c0002t0001g0083a0002c0002t0001g0235others(28): Show | 31 | 310 | 0.1000 | -3 | c.207 others(18): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99060233 | TTTA | T | intron_variant | MODIFIER | HG02809.hp1 HG03225.hp1 NA18906.hp1 |
a0010a0024 | a0010c0012a0024c0028 | a0010c0012t0002a0024c0028t0002 | a0010c0012t0002g0220a0010c0012t0002g0221a0024c0028t0002g0088 | 3 | 310 | 0.0097 | -3 | c.340 others(20): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 36/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99060253 | TATA | T | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp2 HG03471.hp2 others(1): Show |
a0019a0038 | a0019c0024a0038c0057 | a0019c0024t0006a0038c0057t0006 | a0019c0024t0006g0122a0019c0024t0006g0124a0019c0024t0006g0166others(1): Show | 4 | 310 | 0.0129 | -3 | c.340 others(20): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 36/41 | chr9 | TogoVar |