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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C18orf21_chr18_35967679_35984278 | 35982821 | ATGT | A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02109.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0003c0005t0001 | a0002c0002t0001g0025 a0002c0002t0001g0038 a0002c0002t0001g0040 others(1): Show |
5 | 400 | 0.0125 | -3 | c.*38 others(14): Show |
C18orf21 | ENSG00000141428.17 | transcript | ENST00000592875.6 | protein_coding | 3544 | chr18 | TogoVar | |||||||
C18orf32_chr18_49472243_49492234 | 49481576 | TCAC | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(163): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(25): Show | a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0010 others(69): Show |
166 | 440 | 0.3773 | -3 | c.*76 others(12): Show |
C18orf32 | ENSG00000177576.12 | transcript | ENST00000318240.8 | protein_coding | 3/3 | 766 | chr18 | TogoVar | ||||||
C18orf32_chr18_49472243_49492234 | 49484148 | ATAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01099.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0003g0008 others(20): Show |
44 | 440 | 0.1000 | -3 | c.-23 others(18): Show |
C18orf32 | ENSG00000177576.12 | transcript | ENST00000318240.8 | protein_coding | 1/2 | chr18 | TogoVar | |||||||
C18orf32_chr18_49472243_49492234 | 49488004 | TATC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(181): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(31): Show | a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0010 others(83): Show |
184 | 440 | 0.4182 | -3 | c.-98 others(12): Show |
C18orf32 | ENSG00000177576.12 | transcript | ENST00000318240.8 | protein_coding | 771 | chr18 | TogoVar | |||||||
C18orf54_chr18_54352906_54387034 | 54357825 | GCAT | G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01074.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0021a0002c0002t0005a0002c0002t0016others(5): Show | a0001c0001t0021g0081 a0002c0002t0005g0008 a0002c0002t0005g0020 others(11): Show |
21 | 336 | 0.0625 | -3 | c.-39 others(12): Show |
C18orf54 | ENSG00000166845.15 | transcript | ENST00000620105.5 | protein_coding | 80 | chr18 | TogoVar | |||||||
C18orf54_chr18_54352906_54387034 | 54358403 | TCTC | T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0121 |
9 | 336 | 0.0268 | -3 | c.-14 others(20): Show |
C18orf54 | ENSG00000166845.15 | transcript | ENST00000620105.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C18orf54_chr18_54352906_54387034 | 54364144 | CATA | C | intron_variant | MODIFIER | NA18973.hp2 NA18997.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0003g0062 |
3 | 336 | 0.0089 | -3 | c.122 others(22): Show |
C18orf54 | ENSG00000166845.15 | transcript | ENST00000620105.5 | protein_coding | 5/8 | chr18 | TogoVar | |||||||
C18orf54_chr18_54352906_54387034 | 54382255 | AATC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(233): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0005a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(109): Show |
236 | 336 | 0.7024 | -3 | c.*40 others(14): Show |
C18orf54 | ENSG00000166845.15 | transcript | ENST00000620105.5 | protein_coding | 222 | chr18 | TogoVar | |||||||
C18orf63_chr18_74310839_74364189 | 74341270 | CAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01081.hp2 others(22): Show |
a0001a0002a0015 | a0001c0001a0002c0003a0015c0014 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0168 a0001c0001t0001g0169 others(15): Show |
25 | 372 | 0.0672 | -3 | c.612 others(18): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C18orf63_chr18_74310839_74364189 | 74355462 | ACTT | A | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0037 a0001c0001t0007g0057 a0001c0001t0007g0111 others(2): Show |
6 | 372 | 0.0161 | -3 | c.*33 others(18): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 13/13 | chr18 | TogoVar | |||||||
C19orf12_chr19_29693937_29720261 | 29698851 | CAAA | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01074.hp1 HG01081.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0003g0002 a0001c0001t0003g0206 a0001c0001t0003g0221 others(60): Show |
87 | 418 | 0.2081 | -3 | c.*38 others(14): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 85 | chr19 | TogoVar | |||||||
C19orf12_chr19_29693937_29720261 | 29699482 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(163): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0011 others(99): Show |
166 | 418 | 0.3971 | -3 | c.*32 others(14): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 3/3 | 3227 | chr19 | TogoVar | ||||||
C19orf12_chr19_29693937_29720261 | 29718746 | CATG | C | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01361.hp2 HG01884.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0004g0104 a0001c0001t0006g0006 a0001c0001t0006g0031 others(14): Show |
31 | 418 | 0.0742 | -3 | c.-36 others(14): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 3486 | chr19 | TogoVar | |||||||
C19orf12_chr19_29693937_29720261 | 29719389 | TTTA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0022a0001c0001t0053a0001c0002t0001others(7): Show | a0001c0001t0022g0072 a0001c0001t0022g0076 a0001c0001t0053g0236 others(32): Show |
63 | 418 | 0.1507 | -3 | c.-42 others(14): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 4129 | chr19 | TogoVar | |||||||
C19orf18_chr19_57953437_57979534 | 57969566 | GAAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01074.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0105 a0001c0001t0001g0119 others(18): Show |
39 | 408 | 0.0956 | -3 | c.268 others(20): Show |
C19orf18 | ENSG00000177025.3 | transcript | ENST00000314391.3 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
C19orf18_chr19_57953437_57979534 | 57973145 | CAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00609.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(29): Show |
48 | 408 | 0.1177 | -3 | c.227 others(18): Show |
C19orf18 | ENSG00000177025.3 | transcript | ENST00000314391.3 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
C19orf33_chr19_38299251_38310006 | 38303074 | CTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG01069.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0006t0001g0001 a0002c0002t0002g0001 others(1): Show |
28 | 406 | 0.0690 | -3 | c.-11 others(14): Show |
C19orf33 | ENSG00000167644.12 | transcript | ENST00000301246.10 | protein_coding | 1176 | chr19 | TogoVar | |||||||
C19orf33_chr19_38299251_38310006 | 38304906 | TGAA | T | conservative_inframe_deletion | MODERATE | HG00438.hp2 HG00735.hp1 HG00738.hp1 others(70): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002 | 73 | 406 | 0.1798 | -3 | c.271 others(10): Show |
p.Lys others(5): Show |
C19orf33 | ENSG00000167644.12 | transcript | ENST00000301246.10 | protein_coding | 4/4 | 282/374 | 271/321 | 91/106 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
C19orf33_chr19_38299251_38310006 | 38304914 | AAGG | A | conservative_inframe_deletion | MODERATE | HG02257.hp2 HG02258.hp1 HG03453.hp2 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0001 | 4 | 406 | 0.0099 | -3 | c.274 others(10): Show |
p.Glu others(5): Show |
C19orf33 | ENSG00000167644.12 | transcript | ENST00000301246.10 | protein_coding | 4/4 | 285/374 | 274/321 | 92/106 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
C19orf33_chr19_38299251_38310006 | 38304940 | CAAG | C | conservative_inframe_deletion | MODERATE | HG00733.hp2 HG01106.hp2 HG01358.hp1 others(7): Show |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0002a0005c0005t0002 | a0004c0004t0002g0003 a0004c0004t0002g0004 a0005c0005t0002g0001 |
10 | 406 | 0.0246 | -3 | c.304 others(10): Show |
p.Lys others(6): Show |
C19orf33 | ENSG00000167644.12 | transcript | ENST00000301246.10 | protein_coding | 4/4 | 315/374 | 304/321 | 102/106 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
C19orf38_chr19_10843415_10874790 | 10867641 | CTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00639.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0090 a0001c0001t0001g0092 others(50): Show |
54 | 384 | 0.1406 | -3 | c.544 others(20): Show |
C19orf38 | ENSG00000214212.9 | transcript | ENST00000397820.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C19orf38_chr19_10843415_10874790 | 10871589 | AGCG | A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG02257.hp1 HG02622.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0249 a0001c0001t0001g0250 others(9): Show |
12 | 384 | 0.0313 | -3 | c.*22 others(14): Show |
C19orf38 | ENSG00000214212.9 | transcript | ENST00000397820.5 | protein_coding | 1800 | chr19 | TogoVar | |||||||
C19orf38_chr19_10843415_10874790 | 10871640 | AGCG | A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02698.hp1 HG02738.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0036 a0001c0001t0001g0078 a0001c0001t0001g0102 others(7): Show |
10 | 384 | 0.0260 | -3 | c.*22 others(14): Show |
C19orf38 | ENSG00000214212.9 | transcript | ENST00000397820.5 | protein_coding | 1851 | chr19 | TogoVar | |||||||
C19orf38_chr19_10843415_10874790 | 10873624 | GTTT | G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG01192.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0078 a0001c0001t0001g0093 others(26): Show |
29 | 384 | 0.0755 | -3 | c.*42 others(14): Show |
C19orf38 | ENSG00000214212.9 | transcript | ENST00000397820.5 | protein_coding | 3835 | chr19 | TogoVar | |||||||
C19orf44_chr19_16491394_16526352 | 16493542 | ATTT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0038 others(38): Show |
63 | 330 | 0.1909 | -3 | c.-29 others(14): Show |
C19orf44 | ENSG00000105072.9 | transcript | ENST00000221671.8 | protein_coding | 2851 | chr19 | TogoVar | |||||||
C19orf44_chr19_16491394_16526352 | 16495558 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(227): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(125): Show |
230 | 330 | 0.6970 | -3 | c.-90 others(12): Show |
C19orf44 | ENSG00000105072.9 | transcript | ENST00000221671.8 | protein_coding | 835 | chr19 | TogoVar | |||||||
C19orf44_chr19_16491394_16526352 | 16507791 | CTAT | C | intron_variant | MODIFIER | HG02109.hp2 HG02818.hp2 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0006a0002c0003a0002c0007 | a0001c0006t0002a0002c0003t0003a0002c0007t0003 | a0001c0006t0002g0150 a0002c0003t0003g0024 a0002c0003t0003g0152 others(1): Show |
6 | 330 | 0.0182 | -3 | c.114 others(22): Show |
C19orf44 | ENSG00000105072.9 | transcript | ENST00000221671.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C19orf47_chr19_40314536_40353397 | 40337288 | AATT | A | intron_variant | MODIFIER | HG00673.hp1 HG01884.hp1 HG02165.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0102 a0001c0001t0002g0145 a0001c0001t0003g0012 others(2): Show |
7 | 384 | 0.0182 | -3 | c.20- others(16): Show |
C19orf47 | ENSG00000160392.14 | transcript | ENST00000683109.1 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
C19orf47_chr19_40314536_40353397 | 40345536 | TAAA | T | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01255.hp1 others(40): Show |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0059 a0001c0001t0002g0156 a0001c0001t0003g0011 others(30): Show |
43 | 384 | 0.1120 | -3 | c.-34 others(20): Show |
C19orf47 | ENSG00000160392.14 | transcript | ENST00000683109.1 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
C19orf53_chr19_13769456_13783773 | 13773630 | TTAA | T | upstream_gene_variant | MODIFIER | HG00558.hp2 NA18983.hp1 NA19056.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 a0002c0002t0002g0041 |
3 | 434 | 0.0069 | -3 | c.-84 others(12): Show |
C19orf53 | ENSG00000104979.9 | transcript | ENST00000588234.6 | protein_coding | 825 | chr19 | TogoVar | |||||||
C19orf53_chr19_13769456_13783773 | 13776124 | ATTT | A | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG02056.hp2 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 a0002c0002t0002g0045 a0002c0002t0002g0046 others(2): Show |
20 | 434 | 0.0461 | -3 | c.153 others(20): Show |
C19orf53 | ENSG00000104979.9 | transcript | ENST00000588234.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C19orf53_chr19_13769456_13783773 | 13777647 | CTCT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(160): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0010 | a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0011 others(21): Show |
163 | 434 | 0.3756 | -3 | c.154 others(18): Show |
C19orf53 | ENSG00000104979.9 | transcript | ENST00000588234.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C19orf53_chr19_13769456_13783773 | 13781937 | TTTA | T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp1 others(132): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0004g0031 a0002c0002t0001g0052 a0002c0002t0002g0001 others(19): Show |
135 | 434 | 0.3111 | -3 | c.*37 others(14): Show |
C19orf53 | ENSG00000104979.9 | transcript | ENST00000588234.6 | protein_coding | 3165 | chr19 | TogoVar | |||||||
C19orf67_chr19_14076624_14090783 | 14087590 | AAAC | A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 394 | 0.0102 | -3 | c.-19 others(14): Show |
C19orf67 | ENSG00000188032.10 | transcript | ENST00000548523.6 | protein_coding | 1808 | chr19 | TogoVar | |||||||
C19orf73_chr19_49113402_49124143 | 49113414 | TCTC | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 374 | 0.0107 | -3 | c.*52 others(14): Show |
C19orf73 | ENSG00000221916.4 | transcript | ENST00000408991.4 | protein_coding | 4987 | chr19 | TogoVar | |||||||
C19orf73_chr19_49113402_49124143 | 49113654 | AAAT | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 55 | 374 | 0.1471 | -3 | c.*49 others(14): Show |
C19orf73 | ENSG00000221916.4 | transcript | ENST00000408991.4 | protein_coding | 4747 | chr19 | TogoVar | |||||||
C19orf73_chr19_49113402_49124143 | 49115424 | CATG | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(75): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0000 a0005c0006t0001g0000 |
78 | 374 | 0.2086 | -3 | c.*32 others(14): Show |
C19orf73 | ENSG00000221916.4 | transcript | ENST00000408991.4 | protein_coding | 2977 | chr19 | TogoVar | |||||||
C19orf73_chr19_49113402_49124143 | 49123939 | CTCT | C | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02896.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 374 | 0.0134 | -3 | c.-49 others(14): Show |
C19orf73 | ENSG00000221916.4 | transcript | ENST00000408991.4 | protein_coding | 4797 | chr19 | TogoVar | |||||||
C1D_chr2_68036130_68068004 | 68052403 | TTAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00621.hp2 others(61): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0026 | a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0026 others(16): Show |
64 | 368 | 0.1739 | -3 | c.-9- others(18): Show |
C1D | ENSG00000197223.12 | transcript | ENST00000410067.8 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
C1GALT1C1L_chr2_43670151_43681429 | 43679494 | CTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 |
60 | 396 | 0.1515 | -3 | c.-31 others(14): Show |
C1GALT1C1L | ENSG00000223658.8 | transcript | ENST00000475092.4 | protein_coding | 3066 | chr2 | TogoVar | |||||||
C1GALT1C1_chrX_120620674_120635054 | 120634970 | ATCT | A | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 324 | 0.0031 | -3 | c.-50 others(14): Show |
C1GALT1C1 | ENSG00000171155.8 | transcript | ENST00000304661.6 | protein_coding | 4917 | chrX | TogoVar | |||||||
C1GALT1C1_chrX_120620674_120635054 | 120634977 | CCTT | C | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 324 | 0.0031 | -3 | c.-50 others(14): Show |
C1GALT1C1 | ENSG00000171155.8 | transcript | ENST00000304661.6 | protein_coding | 4924 | chrX | TogoVar | |||||||
C1GALT1_chr7_7177544_7253616 | 7180512 | CTGT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(44): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0032 others(37): Show |
47 | 392 | 0.1199 | -3 | c.-23 others(14): Show |
C1GALT1 | ENSG00000106392.11 | transcript | ENST00000436587.7 | protein_coding | 2031 | chr7 | TogoVar | |||||||
C1GALT1_chr7_7177544_7253616 | 7203861 | ATTG | A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(112): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(15): Show | a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0032 others(97): Show |
115 | 392 | 0.2934 | -3 | c.-18 others(22): Show |
C1GALT1 | ENSG00000106392.11 | transcript | ENST00000436587.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C1GALT1_chr7_7177544_7253616 | 7210238 | TGTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(100): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0032 others(87): Show |
103 | 392 | 0.2628 | -3 | c.-17 others(22): Show |
C1GALT1 | ENSG00000106392.11 | transcript | ENST00000436587.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C1GALT1_chr7_7177544_7253616 | 7223813 | GTGA | G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0037others(3): Show | a0001c0001t0006g0019 a0001c0001t0006g0021 a0001c0001t0006g0117 others(36): Show |
41 | 392 | 0.1046 | -3 | c.-17 others(22): Show |
C1GALT1 | ENSG00000106392.11 | transcript | ENST00000436587.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C1GALT1_chr7_7177544_7253616 | 7228180 | ATAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02451.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014a0001c0001t0019others(2): Show | a0001c0001t0010g0002 a0001c0001t0010g0043 a0001c0001t0010g0067 others(9): Show |
16 | 392 | 0.0408 | -3 | c.-17 others(20): Show |
C1GALT1 | ENSG00000106392.11 | transcript | ENST00000436587.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C1GALT1_chr7_7177544_7253616 | 7230622 | CTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01943.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0002g0295 a0001c0001t0003g0211 a0001c0001t0009g0096 others(13): Show |
17 | 392 | 0.0434 | -3 | c.-17 others(20): Show |
C1GALT1 | ENSG00000106392.11 | transcript | ENST00000436587.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C1QA_chr1_22631628_22644678 | 22632934 | AAAG | A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02109.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(2): Show |
14 | 432 | 0.0324 | -3 | c.-37 others(14): Show |
C1QA | ENSG00000173372.18 | transcript | ENST00000374642.8 | protein_coding | 3693 | chr1 | TogoVar | |||||||
C1QA_chr1_22631628_22644678 | 22633256 | AAAG | A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02723.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
8 | 432 | 0.0185 | -3 | c.-34 others(14): Show |
C1QA | ENSG00000173372.18 | transcript | ENST00000374642.8 | protein_coding | 3371 | chr1 | TogoVar |