view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN5_chr11_99015949_100363885 | 99941571 | A | AACACACA others(27): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03471.hp1 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0016a0009c0008t0007 | a0001c0001t0016g0049 a0009c0008t0007g0038 |
2 | 44 | 0.0455 | 34 | c.674 others(53): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1119322 | C | CGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0005 | 1 | 8 | 0.1250 | 34 | c.-83 others(53): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1280459 | A | ATTTTTTT others(27): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 41 | 0.0244 | 34 | c.454 others(51): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146721889 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0017 | 1 | 14 | 0.0714 | 34 | c.98- others(51): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146721889 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 14 | 0.0714 | 34 | c.98- others(51): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147510850 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 |
a0001a0003 | a0001c0009a0003c0014 | a0001c0009t0019a0003c0014t0021 | a0001c0009t0019g0027 a0003c0014t0021g0022 |
2 | 7 | 0.2857 | 34 | c.177 others(55): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41979653 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0059 | 1 | 100 | 0.0100 | 34 | c.147 others(53): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 9/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42090783 | C | CATATGTG others(27): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0020 | a0020c0026 | a0020c0026t0020 | a0020c0026t0020g0027 | 1 | 57 | 0.0175 | 34 | c.197 others(53): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 2/23 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0007 | a0007c0013 | a0007c0013t0022 | a0007c0013t0022g0249 | 1 | 104 | 0.0096 | 34 | c.133 others(53): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0102 | 1 | 104 | 0.0096 | 34 | c.133 others(53): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01928.hp2 NA18979.hp1 NA19062.hp2 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0003a0002c0002t0002a0006c0009t0003 | a0001c0001t0003g0111 a0002c0002t0002g0042 a0006c0009t0003g0031 |
3 | 106 | 0.0283 | 34 | c.133 others(53): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19077.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0151 a0002c0002t0002g0059 |
2 | 105 | 0.0190 | 34 | c.133 others(53): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76470481 | T | TTTTATAT others(27): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 a0001c0001t0005g0202 |
2 | 269 | 0.0074 | 34 | c.165 others(53): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 10/23 | chr16 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76470482 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03491.hp2 |
a0002a0007 | a0002c0005a0007c0013 | a0002c0005t0002a0007c0013t0002 | a0002c0005t0002g0257 a0007c0013t0002g0210 |
2 | 99 | 0.0202 | 34 | c.165 others(53): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76470495 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0220 | 1 | 184 | 0.0054 | 34 | c.165 others(53): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124786523 | G | GAAAGAAA others(27): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 59 | 0.0169 | 34 | c.275 others(53): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43664103 | A | AAGAGAGA others(27): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 91 | 0.0110 | 34 | c.-38 others(53): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234383064 | G | GAGGGAGG others(27): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02572.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0122 |
3 | 388 | 0.0077 | 34 | c.373 others(49): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164725114 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03710.hp1 |
a0001a0020 | a0001c0002a0020c0028 | a0001c0002t0001a0020c0028t0016 | a0001c0002t0001g0202 a0020c0028t0016g0205 |
2 | 209 | 0.0096 | 34 | c.662 others(51): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164725116 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18970.hp2 NA19079.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0002 a0005c0006t0001g0204 |
3 | 210 | 0.0143 | 34 | c.662 others(51): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0081 | 1 | 84 | 0.0119 | 34 | c.958 others(53): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COG2_chr1_230637481_230698982 | 230691178 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03139.hp1 HG03688.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0011t0001g0093 |
3 | 404 | 0.0074 | 34 | c.193 others(51): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COG2_chr1_230637481_230698982 | 230691189 | G | GTATATAC others(27): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0291 a0001c0001t0001g0296 |
4 | 403 | 0.0099 | 34 | c.193 others(51): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75180562 | C | CAATATAT others(27): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0037 | 1 | 203 | 0.0049 | 34 | c.216 others(51): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 11/65 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208124 | T | TTCTCTCT others(27): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0038 | 1 | 192 | 0.0052 | 34 | c.-23 others(45): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2072 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69810376 | G | GAGAGAGA others(27): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0079 | 1 | 240 | 0.0042 | 34 | c.294 others(51): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69949965 | C | CGTGTGTG others(27): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 301 | 0.0033 | 34 | c.205 others(53): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 38/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120200048 | A | AGCATATA others(27): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(38): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0003a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0113 others(38): Show |
41 | 198 | 0.2071 | 34 | c.877 others(49): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120200048 | A | AGCATATA others(27): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02055.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0001t0002g0018 a0001c0001t0002g0073 a0001c0003t0001g0043 others(12): Show |
15 | 172 | 0.0872 | 34 | c.877 others(49): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120348272 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0025 a0001c0007t0009g0026 |
2 | 216 | 0.0093 | 34 | c.507 others(53): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707385 | T | TTTTCTTT others(27): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 199 | 0.0050 | 34 | c.-35 others(45): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3369 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45437552 | A | ACACACTC others(27): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02922.hp1 NA19057.hp1 |
a0001a0003 | a0001c0001a0001c0054a0003c0096 | a0001c0001t0001a0001c0054t0002a0003c0096t0003 | a0001c0001t0001g0126 a0001c0054t0002g0169 a0003c0096t0003g0020 |
3 | 288 | 0.0104 | 34 | c.107 others(53): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921481 | T | TATTCATA others(27): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02074.hp1 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0002a0002c0004t0001 | a0002c0003t0002g0018 a0002c0004t0001g0124 |
2 | 43 | 0.0465 | 34 | c.267 others(51): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921513 | T | TATATTCA others(27): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0039 | a0002c0003t0039g0127 | 1 | 169 | 0.0059 | 34 | c.267 others(51): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138623237 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0018 | a0001c0018t0004 | a0001c0018t0004g0085 | 1 | 77 | 0.0130 | 34 | c.377 others(51): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 52/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258236 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0009 | a0002c0009t0006 | a0002c0009t0006g0232 | 1 | 134 | 0.0075 | 34 | c.730 others(49): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 138 | 0.0072 | 34 | c.730 others(49): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG03239.hp1 HG04204.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0020 a0002c0003t0001g0036 |
2 | 139 | 0.0144 | 34 | c.730 others(49): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01361.hp2 HG02083.hp2 others(1): Show |
a0002a0003 | a0002c0002a0002c0003a0003c0004 | a0002c0002t0001a0002c0003t0005a0003c0004t0003 | a0002c0002t0001g0033 a0002c0002t0001g0051 a0002c0003t0005g0068 others(1): Show |
4 | 141 | 0.0284 | 34 | c.730 others(49): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178523199 | T | TACACATA others(27): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0003 | 1 | 192 | 0.0052 | 34 | c.361 others(53): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01169.hp2 others(9): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0007a0002c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0007t0002others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0164 others(9): Show |
12 | 132 | 0.0909 | 34 | c.231 others(53): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02273.hp1 HG02572.hp2 others(2): Show |
a0001a0008a0014 | a0001c0001a0008c0006a0014c0020 | a0001c0001t0001a0008c0006t0001a0014c0020t0002 | a0001c0001t0001g0160 a0001c0001t0001g0165 a0008c0006t0001g0048 others(2): Show |
5 | 125 | 0.0400 | 34 | c.231 others(53): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109019375 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0059 a0001c0001t0011g0044 |
2 | 92 | 0.0217 | 34 | c.421 others(51): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101385367 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0135 a0001c0001t0015g0132 |
2 | 129 | 0.0155 | 34 | c.158 others(53): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101463903 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0060 | 1 | 151 | 0.0066 | 34 | c.385 others(53): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47971855 | T | TTATATTG others(27): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(33): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0011others(4): Show | a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0038 others(24): Show |
36 | 280 | 0.1286 | 34 | c.*15 others(45): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 1111 | chr12 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110154663 | A | AGAGAAGC others(27): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(280): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(98): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(120): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0028 others(277): Show |
283 | 332 | 0.8524 | 34 | c.475 others(51): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 50/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110313441 | G | GGCGTCCA others(27): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03516.hp1 |
a0001a0019 | a0001c0008a0019c0061 | a0001c0008t0001a0019c0061t0011 | a0001c0008t0001g0202 a0019c0061t0011g0039 |
2 | 370 | 0.0054 | 34 | c.99+ others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110313562 | C | CCCACCCC others(27): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0003 | a0003c0007 | a0003c0007t0035 | a0003c0007t0035g0025 | 1 | 366 | 0.0027 | 34 | c.99+ others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110313596 | C | CCCACCCC others(27): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0067 | a0003c0067t0050 | a0003c0067t0050g0151 | 1 | 368 | 0.0027 | 34 | c.99+ others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |