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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CADPS2_chr7_122313411_122891460 | 122369155 | T | TGAGACG | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01167.hp2 others(46): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0040 others(46): Show |
49 | 126 | 0.3889 | 6 | c.338 others(25): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 25/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122427121 | C | CGTGTGT | intron_variant | MODIFIER | HG01243.hp1 HG02965.hp1 HG02970.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0058 others(11): Show |
14 | 126 | 0.1111 | 6 | c.247 others(27): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 17/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122480355 | T | TTTTTAA | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01069.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(52): Show |
55 | 126 | 0.4365 | 6 | c.186 others(23): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 12/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122486923 | T | TTGTTAG | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02886.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0088 a0001c0001t0001g0098 others(5): Show |
8 | 126 | 0.0635 | 6 | c.185 others(25): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 11/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122527580 | A | AAGAGAG | intron_variant | MODIFIER | HG02132.hp2 HG03834.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0077 a0001c0001t0002g0080 a0001c0002t0001g0065 others(1): Show |
4 | 126 | 0.0318 | 6 | c.147 others(27): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 8/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122527582 | T | TAGAGAG | intron_variant | MODIFIER | HG01069.hp1 HG03540.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0008a0001c0002t0001a0001c0005t0004 | a0001c0001t0008g0118 a0001c0002t0001g0026 a0001c0005t0004g0072 |
3 | 126 | 0.0238 | 6 | c.147 others(27): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 8/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122528110 | A | AGTGGTG | intron_variant | MODIFIER | HG00609.hp2 HG01192.hp1 HG01952.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0063 a0001c0001t0002g0064 a0001c0001t0002g0107 others(7): Show |
10 | 126 | 0.0794 | 6 | c.147 others(27): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 8/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122564846 | T | TGCACAC | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01243.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0038 |
3 | 126 | 0.0238 | 6 | c.133 others(27): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 7/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122564847 | G | GCACACA | intron_variant | MODIFIER | HG01975.hp2 HG02080.hp2 HG02809.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004 a0001c0001t0002g0045 a0001c0001t0003g0078 others(8): Show |
11 | 126 | 0.0873 | 6 | c.133 others(27): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 7/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122574445 | T | TAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG01346.hp2 HG02683.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0002g0020 others(6): Show |
9 | 126 | 0.0714 | 6 | c.133 others(25): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 7/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122577458 | G | GCATTTA | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
2 | 126 | 0.0159 | 6 | c.133 others(25): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 7/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122579464 | T | TATATAC | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01243.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0038 |
3 | 126 | 0.0238 | 6 | c.133 others(25): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 7/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122585247 | G | GATACAA | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 HG03225.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0004a0002c0006t0001a0002c0006t0002 | a0001c0002t0004g0067 a0002c0006t0001g0059 a0002c0006t0002g0055 |
3 | 126 | 0.0238 | 6 | c.122 others(25): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 6/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122637208 | T | TTTTCTC | intron_variant | MODIFIER | HG00609.hp1 HG01255.hp1 NA20752.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0004t0002 | a0001c0002t0001g0054 a0001c0002t0001g0065 a0001c0002t0002g0052 others(2): Show |
5 | 126 | 0.0397 | 6 | c.787 others(23): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122645658 | G | GATATAT | intron_variant | MODIFIER | HG01257.hp2 HG02280.hp1 HG02486.hp2 others(4): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0008 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0002t0001g0017 a0001c0002t0001g0044 a0001c0002t0001g0054 others(4): Show |
7 | 126 | 0.0556 | 6 | c.787 others(25): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122645681 | A | ATATATC | intron_variant | MODIFIER | HG01346.hp1 HG01978.hp2 HG02132.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0040 a0001c0001t0003g0037 a0001c0003t0001g0011 others(4): Show |
7 | 126 | 0.0556 | 6 | c.787 others(25): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122645681 | A | ATATCTC | intron_variant | MODIFIER | HG01070.hp1 HG01975.hp2 HG02080.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0088 others(10): Show |
13 | 126 | 0.1032 | 6 | c.787 others(25): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3/29 | chr7 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62407135 | A | ACATCAT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01071.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0093 others(15): Show |
18 | 160 | 0.1125 | 6 | c.377 others(25): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 28/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62420861 | A | AACACAC | intron_variant | MODIFIER | NA18986.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0096 a0001c0003t0001g0016 |
2 | 160 | 0.0125 | 6 | c.377 others(27): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 28/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62449798 | A | AGTGTGT | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01891.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0118 a0001c0001t0001g0132 others(5): Show |
8 | 160 | 0.0500 | 6 | c.363 others(25): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 26/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62491550 | C | CACACAA | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 |
3 | 160 | 0.0188 | 6 | c.288 others(21): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 20/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62491558 | A | AACACAC | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0143 others(3): Show |
6 | 160 | 0.0375 | 6 | c.288 others(21): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 20/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62507088 | G | GTACTAC | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0139 others(1): Show |
4 | 160 | 0.0250 | 6 | c.259 others(25): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 17/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62583155 | G | GTCTCTC | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00621.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0024 others(36): Show |
39 | 160 | 0.2438 | 6 | c.157 others(25): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 8/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62638077 | T | TTATATA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01884.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0067 others(2): Show |
5 | 160 | 0.0313 | 6 | c.132 others(25): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 6/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62649543 | C | CTTTTTT | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01261.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 others(3): Show |
6 | 160 | 0.0375 | 6 | c.120 others(25): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 5/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62715753 | C | CTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00738.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0001g0075 others(6): Show |
9 | 160 | 0.0563 | 6 | c.888 others(25): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62819407 | C | CGTGTGT | intron_variant | MODIFIER | HG00438.hp1 HG02109.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0066 others(7): Show |
10 | 160 | 0.0625 | 6 | c.442 others(25): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
CAD_chr2_27212369_27248943 | 27221780 | T | TTTTTTA | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG02735.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0016 a0001c0005t0001g0160 a0001c0005t0001g0162 others(1): Show |
6 | 258 | 0.0233 | 6 | c.353 others(21): Show |
CAD | ENSG00000084774.14 | transcript | ENST00000264705.9 | protein_coding | 3/43 | chr2 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7325315 | T | TTATATA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01261.hp2 HG01361.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0174 a0001c0001t0002g0250 a0001c0001t0002g0251 others(40): Show |
43 | 360 | 0.1194 | 6 | c.*15 others(17): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 1343 | chr6 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7328918 | G | GTGTGTA | intron_variant | MODIFIER | HG03486.hp1 NA18967.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0156 a0001c0001t0002g0322 a0001c0001t0002g0335 |
3 | 360 | 0.0083 | 6 | c.247 others(23): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 13/13 | chr6 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7358025 | G | GAAATAT | intron_variant | MODIFIER | HG00323.hp1 NA18747.hp1 NA18951.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0036 others(2): Show |
5 | 360 | 0.0139 | 6 | c.219 others(25): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7358027 | G | GATATAT | intron_variant | MODIFIER | HG01175.hp1 HG01515.hp2 HG02040.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001 | a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0218 others(7): Show |
10 | 360 | 0.0278 | 6 | c.219 others(25): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
CALB1_chr8_90053608_90087879 | 90056954 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0081 |
8 | 384 | 0.0208 | 6 | c.*32 others(17): Show |
CALB1 | ENSG00000104327.7 | transcript | ENST00000265431.7 | protein_coding | 1653 | chr8 | TogoVar | |||||||
CALB1_chr8_90053608_90087879 | 90070837 | A | AGTGTGT | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0077 others(1): Show |
6 | 384 | 0.0156 | 6 | c.232 others(23): Show |
CALB1 | ENSG00000104327.7 | transcript | ENST00000265431.7 | protein_coding | 3/10 | chr8 | TogoVar | |||||||
CALB1_chr8_90053608_90087879 | 90070861 | T | TGTGTGA | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG01934.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0002g0016 a0001c0001t0002g0027 others(3): Show |
12 | 384 | 0.0313 | 6 | c.232 others(23): Show |
CALB1 | ENSG00000104327.7 | transcript | ENST00000265431.7 | protein_coding | 3/10 | chr8 | TogoVar | |||||||
CALB1_chr8_90053608_90087879 | 90083799 | G | GTATATA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01358.hp1 HG03225.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(1): Show |
9 | 384 | 0.0234 | 6 | c.-11 others(17): Show |
CALB1 | ENSG00000104327.7 | transcript | ENST00000265431.7 | protein_coding | 921 | chr8 | TogoVar | |||||||
CALB2_chr16_71353723_71395433 | 71364290 | A | ACCAGCC | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02622.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0012 a0002c0002t0002g0044 a0002c0002t0002g0045 others(6): Show |
10 | 426 | 0.0235 | 6 | c.94+ others(21): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CALB2_chr16_71353723_71395433 | 71382016 | A | AGAGGAG | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01123.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0034 others(22): Show |
27 | 426 | 0.0634 | 6 | c.343 others(21): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CALB2_chr16_71353723_71395433 | 71388346 | A | AAAAAAG | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 a0001c0001t0003g0053 a0001c0001t0003g0264 others(8): Show |
12 | 426 | 0.0282 | 6 | c.700 others(23): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48845371 | C | CTCTGTG | intron_variant | MODIFIER | HG02135.hp2 NA20805.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0014g0296 |
3 | 328 | 0.0092 | 6 | c.181 others(23): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854382 | T | TTATATA | intron_variant | MODIFIER | HG01243.hp1 HG02738.hp2 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0009 | a0001c0001t0002g0122 a0001c0001t0002g0151 a0001c0001t0002g0245 others(3): Show |
6 | 328 | 0.0183 | 6 | c.912 others(23): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48857497 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01243.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0002a0001c0001t0014a0002c0003t0001others(4): Show | a0001c0001t0002g0321 a0001c0001t0014g0322 a0002c0003t0001g0020 others(15): Show |
18 | 328 | 0.0549 | 6 | c.100 others(25): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48861659 | G | GTATATA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0002c0003t0001others(1): Show | a0001c0001t0002g0260 a0001c0001t0002g0268 a0001c0001t0002g0310 others(4): Show |
7 | 328 | 0.0213 | 6 | c.114 others(23): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCRL_chr2_187336964_187453252 | 187346841 | T | TCAGCAG | intron_variant | MODIFIER | HG01928.hp1 HG01943.hp2 HG01981.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0083 a0001c0001t0002g0094 a0001c0001t0002g0166 others(12): Show |
15 | 344 | 0.0436 | 6 | c.117 others(23): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 14/14 | chr2 | TogoVar | |||||||
CALCRL_chr2_187336964_187453252 | 187362575 | G | GACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(75): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0018a0001c0001t0020others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(71): Show |
78 | 344 | 0.2267 | 6 | c.627 others(21): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 9/14 | chr2 | TogoVar | |||||||
CALCRL_chr2_187336964_187453252 | 187366249 | C | CAAAAAA | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG02015.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0012a0001c0001t0026others(2): Show | a0001c0001t0004g0157 a0001c0001t0004g0161 a0001c0001t0004g0177 others(5): Show |
8 | 344 | 0.0233 | 6 | c.501 others(23): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 8/14 | chr2 | TogoVar | |||||||
CALCRL_chr2_187336964_187453252 | 187366918 | C | CCACACA | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01516.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(15): Show |
18 | 344 | 0.0523 | 6 | c.501 others(23): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 8/14 | chr2 | TogoVar | |||||||
CALCRL_chr2_187336964_187453252 | 187405960 | G | GGTGTGT | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0002t0005 | a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0313 others(7): Show |
10 | 344 | 0.0291 | 6 | c.-29 others(27): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
CALCRL_chr2_187336964_187453252 | 187435865 | C | CGTGTGT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(66): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(60): Show |
69 | 344 | 0.2006 | 6 | c.-29 others(27): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 1/14 | chr2 | TogoVar |