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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRPPA_chr7_16082525_16426538 | 16286059 | A | AGAATATT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0046 a0001c0001t0010g0065 a0001c0001t0010g0080 others(1): Show |
4 | 278 | 0.0144 | 7 | c.836 others(24): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389924 | A | ATATATAT | intron_variant | MODIFIER | HG01496.hp1 NA18979.hp1 NA18984.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0006g0078 others(3): Show |
6 | 239 | 0.0251 | 7 | c.535 others(26): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRTAM_chr11_122833500_122877643 | 122875436 | A | ATATATAT | downstream_gene_variant | MODIFIER | NA18961.hp2 NA18990.hp2 NA19076.hp2 others(1): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0008c0011t0001 | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0181 others(1): Show |
4 | 365 | 0.0110 | 7 | c.*40 others(18): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2794 | chr11 | TogoVar | |||||||
CRTAM_chr11_122833500_122877643 | 122875438 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG02622.hp2 HG03942.hp2 NA18979.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0011 a0001c0001t0001g0109 a0001c0001t0001g0113 others(2): Show |
6 | 303 | 0.0198 | 7 | c.*40 others(18): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2796 | chr11 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18710462 | G | GGGAGCCA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0003others(3): Show | a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0197 others(35): Show |
38 | 272 | 0.1397 | 7 | c.126 others(26): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC2_chr1_153942675_153963612 | 153943678 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01433.hp2 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 others(4): Show |
21 | 106 | 0.1981 | 7 | c.*44 others(18): Show |
CRTC2 | ENSG00000160741.17 | transcript | ENST00000368633.2 | protein_coding | 3996 | chr1 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90579634 | C | CTTTTTTT | intron_variant | MODIFIER | HG01258.hp2 HG02109.hp2 HG02258.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0014others(1): Show | a0001c0001t0005a0001c0001t0018a0001c0001t0038others(6): Show | a0001c0001t0005g0256 a0001c0001t0018g0029 a0001c0001t0038g0023 others(7): Show |
10 | 152 | 0.0658 | 7 | c.232 others(26): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90626611 | C | CTTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 HG02258.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0015others(4): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0018others(13): Show | a0001c0001t0007g0120 a0001c0001t0007g0219 a0001c0001t0008g0041 others(17): Show |
20 | 248 | 0.0806 | 7 | c.967 others(22): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647272 | T | TTCCACAC | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01167.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0022a0001c0001t0023others(3): Show | a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0151 others(31): Show |
34 | 176 | 0.1932 | 7 | c.*51 others(18): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1928 | chr15 | TogoVar | |||||||
CRX_chr19_47816937_47848324 | 47824990 | A | ATTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01192.hp2 others(25): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0035 a0001c0001t0001g0190 a0001c0001t0001g0263 others(23): Show |
28 | 171 | 0.1637 | 7 | c.-36 others(24): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26629734 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01069.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0001g0144 others(19): Show |
26 | 32 | 0.8125 | 7 | c.444 others(22): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26634230 | C | CAACAAAA | downstream_gene_variant | MODIFIER | HG01069.hp1 NA20129.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 |
3 | 400 | 0.0075 | 7 | c.*37 others(18): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 3562 | chr22 | TogoVar | |||||||
CRYBB1_chr22_26594278_26623027 | 26605671 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01168.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0040 others(10): Show |
21 | 200 | 0.1050 | 7 | c.432 others(24): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 4/5 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218778 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01109.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0002t0001g0002 others(10): Show |
18 | 356 | 0.0506 | 7 | c.-91 others(16): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 860 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218780 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | HG01981.hp2 NA18970.hp2 NA19076.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0152 a0002c0003t0001g0006 |
3 | 448 | 0.0067 | 7 | c.-91 others(16): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 858 | chr22 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106483403 | A | ATATATAT | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02723.hp2 |
a0013a0041 | a0013c0023a0013c0039a0041c0075 | a0013c0023t0001a0013c0039t0001a0041c0075t0001 | a0013c0023t0001g0265 a0013c0039t0001g0074 a0041c0075t0001g0242 |
3 | 219 | 0.0137 | 7 | c.313 others(26): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | chr6 | TogoVar | |||||||
CRYGC_chr2_208123137_208134828 | 208133789 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0002t0001g0005 others(1): Show |
8 | 318 | 0.0252 | 7 | c.-39 others(18): Show |
CRYGC | ENSG00000163254.5 | transcript | ENST00000282141.4 | protein_coding | 3962 | chr2 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20420700 | G | GTTTTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0095 a0001c0001t0001g0206 a0001c0002t0001g0117 others(2): Show |
5 | 116 | 0.0431 | 7 | c.634 others(24): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20456638 | A | ACACACAC | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01070.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0165 others(6): Show |
9 | 119 | 0.0756 | 7 | c.277 others(26): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYM_chr16_21253521_21283290 | 21272789 | A | ACAGGCAC | intron_variant | MODIFIER | HG02165.hp2 HG03831.hp2 NA18956.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0092 others(3): Show |
14 | 392 | 0.0357 | 7 | c.387 others(24): Show |
CRYM | ENSG00000103316.12 | transcript | ENST00000572914.2 | protein_coding | 3/7 | chr16 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74702928 | A | AGTGTGTG | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01975.hp1 NA20129.hp1 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0001a0002c0002t0001 | a0001c0006t0001g0227 a0002c0002t0001g0006 a0002c0002t0001g0091 |
3 | 367 | 0.0082 | 7 | c.*33 others(18): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 2557 | chr1 | TogoVar | |||||||
CSDC2_chr22_41556010_41581666 | 41562406 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00673.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0089 a0001c0001t0003g0063 a0001c0001t0003g0192 others(14): Show |
24 | 156 | 0.1538 | 7 | c.-12 others(26): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41568025 | T | TCGCCCAG | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0080 others(1): Show |
6 | 286 | 0.0210 | 7 | c.-12 others(26): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49085562 | A | ATTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0339 others(12): Show |
15 | 84 | 0.1786 | 7 | c.172 others(24): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49097938 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01099.hp2 others(21): Show |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0002a0001c0001t0004a0005c0003t0002 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(21): Show |
24 | 61 | 0.3934 | 7 | c.*15 others(18): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 990 | chr20 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19507528 | G | GAAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG02145.hp1 HG02145.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0008a0002c0003t0005 | a0001c0002t0008g0143 a0001c0002t0008g0216 a0001c0002t0008g0231 others(2): Show |
5 | 94 | 0.0532 | 7 | c.-29 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19541553 | A | ATTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01361.hp1 others(8): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0006a0001c0001t0017a0001c0002t0022others(8): Show | a0001c0001t0006g0005 a0001c0001t0017g0122 a0001c0002t0022g0169 others(8): Show |
11 | 84 | 0.1310 | 7 | c.-29 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19649819 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG02615.hp2 HG02630.hp2 others(2): Show |
a0001a0002a0011 | a0001c0001a0002c0003a0011c0020 | a0001c0001t0001a0002c0003t0005a0002c0003t0007others(2): Show | a0001c0001t0001g0199 a0002c0003t0005g0076 a0002c0003t0007g0179 others(2): Show |
5 | 21 | 0.2381 | 7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19716612 | C | CAAAAAAA | intron_variant | MODIFIER | HG02015.hp1 HG02145.hp2 HG02155.hp1 others(3): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0002c0008others(1): Show | a0001c0001t0001a0002c0003t0005a0002c0008t0003others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0002c0003t0005g0052 others(3): Show |
6 | 31 | 0.1935 | 7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19755456 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG02074.hp1 others(15): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 others(15): Show |
18 | 27 | 0.6667 | 7 | c.-39 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2994145 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02622.hp2 others(2): Show |
a0001a0020a0021others(1): Show | a0001c0004a0001c0046a0020c0112others(2): Show | a0001c0004t0063a0001c0046t0073a0020c0112t0081others(2): Show | a0001c0004t0063g0095 a0001c0046t0073g0091 a0020c0112t0081g0090 others(2): Show |
5 | 31 | 0.1613 | 7 | c.837 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 54/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3218560 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01123.hp2 others(14): Show |
a0001a0002a0004others(8): Show | a0001c0002a0001c0003a0001c0005others(14): Show | a0001c0002t0026a0001c0003t0008a0001c0005t0006others(14): Show | a0001c0002t0026g0005 a0001c0003t0008g0053 a0001c0005t0006g0070 others(14): Show |
17 | 105 | 0.1619 | 7 | c.467 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 29/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3394000 | T | TAATAATA | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG00735.hp2 others(39): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0007others(36): Show | a0001c0001t0002a0001c0001t0038a0001c0004t0020others(38): Show | a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 others(39): Show |
42 | 108 | 0.3889 | 7 | c.259 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3741250 | A | AGAAGAAG | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02965.hp2 |
a0005a0008a0025 | a0005c0064a0008c0088a0025c0066 | a0005c0064t0050a0008c0088t0076a0025c0066t0010 | a0005c0064t0050g0078 a0008c0088t0076g0057 a0025c0066t0010g0032 |
3 | 126 | 0.0238 | 7 | c.931 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3752676 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG02056.hp1 HG02257.hp1 others(2): Show |
a0001a0006a0008others(1): Show | a0001c0002a0001c0050a0006c0008others(2): Show | a0001c0002t0002a0001c0050t0052a0006c0008t0082others(2): Show | a0001c0002t0002g0083 a0001c0050t0052g0120 a0006c0008t0082g0126 others(2): Show |
5 | 23 | 0.2174 | 7 | c.931 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3968004 | T | TAAAAAAA | intron_variant | MODIFIER | HG02559.hp1 HG03540.hp1 HG06807.hp1 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0004a0001c0019a0002c0015others(3): Show | a0001c0004t0020a0001c0019t0078a0002c0015t0021others(3): Show | a0001c0004t0020g0086 a0001c0019t0078g0105 a0002c0015t0021g0008 others(3): Show |
6 | 22 | 0.2727 | 7 | c.818 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4187676 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00735.hp1 others(17): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0025a0001c0043others(17): Show | a0001c0002t0002a0001c0025t0003a0001c0043t0031others(17): Show | a0001c0002t0002g0083 a0001c0025t0003g0077 a0001c0043t0031g0044 others(17): Show |
20 | 26 | 0.7692 | 7 | c.416 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4455929 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01071.hp2 others(7): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0047a0002c0015others(7): Show | a0001c0001t0038a0001c0047t0012a0002c0015t0021others(7): Show | a0001c0001t0038g0017 a0001c0047t0012g0024 a0002c0015t0021g0008 others(7): Show |
10 | 14 | 0.7143 | 7 | c.303 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4594195 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02647.hp2 others(3): Show |
a0001a0002a0031 | a0001c0043a0001c0046a0001c0068others(3): Show | a0001c0043t0031a0001c0046t0073a0001c0068t0015others(3): Show | a0001c0043t0031g0044 a0001c0046t0073g0091 a0001c0068t0015g0049 others(3): Show |
6 | 70 | 0.0857 | 7 | c.302 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4645444 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp2 others(13): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0002a0001c0002t0061a0001c0004t0063others(13): Show | a0001c0001t0002g0102 a0001c0002t0061g0069 a0001c0004t0063g0095 others(13): Show |
16 | 47 | 0.3404 | 7 | c.86- others(22): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4750238 | A | ACATTGTG | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG02559.hp2 others(3): Show |
a0001a0002a0005 | a0001c0043a0001c0068a0002c0022others(3): Show | a0001c0043t0031a0001c0068t0015a0002c0022t0035others(3): Show | a0001c0043t0031g0044 a0001c0068t0015g0049 a0002c0022t0035g0048 others(3): Show |
6 | 126 | 0.0476 | 7 | c.86- others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4764872 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01123.hp1 others(2): Show |
a0001a0003a0006others(1): Show | a0001c0043a0003c0056a0003c0087others(2): Show | a0001c0043t0031a0003c0056t0062a0003c0087t0001others(2): Show | a0001c0043t0031g0044 a0003c0056t0062g0072 a0003c0087t0001g0022 others(2): Show |
5 | 79 | 0.0633 | 7 | c.86- others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4825933 | G | GCAGCTAT | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01081.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0038a0001c0002t0061a0001c0003t0019others(6): Show | a0001c0001t0038g0017 a0001c0002t0061g0069 a0001c0003t0019g0107 others(6): Show |
9 | 126 | 0.0714 | 7 | c.85+ others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4881460 | T | TATCTATC | intron_variant | MODIFIER | HG01255.hp2 HG02258.hp2 NA18979.hp1 others(2): Show |
a0001a0002a0003 | a0001c0049a0001c0061a0001c0115others(2): Show | a0001c0049t0002a0001c0061t0001a0001c0115t0042others(2): Show | a0001c0049t0002g0071 a0001c0061t0001g0021 a0001c0115t0042g0055 others(2): Show |
5 | 90 | 0.0556 | 7 | c.85+ others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33512943 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03017.hp1 NA18998.hp1 others(1): Show |
a0001a0002a0028 | a0001c0001a0001c0040a0002c0027others(1): Show | a0001c0001t0001a0001c0040t0001a0002c0027t0003others(1): Show | a0001c0001t0001g0033 a0001c0040t0001g0010 a0002c0027t0003g0045 others(1): Show |
4 | 35 | 0.1143 | 7 | c.*36 others(18): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1054 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33512946 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG02922.hp1 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0026a0002c0002a0002c0006others(2): Show | a0001c0026t0003a0002c0002t0005a0002c0006t0004others(2): Show | a0001c0026t0003g0035 a0002c0002t0005g0036 a0002c0006t0004g0053 others(2): Show |
5 | 12 | 0.4167 | 7 | c.*36 others(18): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1051 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33950543 | A | ATGGCATG | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02055.hp1 others(12): Show |
a0004a0005a0006others(7): Show | a0004c0032a0004c0049a0004c0051others(12): Show | a0004c0032t0001a0004c0049t0009a0004c0051t0001others(12): Show | a0004c0032t0001g0023 a0004c0049t0009g0013 a0004c0051t0001g0019 others(12): Show |
15 | 64 | 0.2344 | 7 | c.518 others(26): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112360553 | C | CAAATGGT | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02717.hp1 others(6): Show |
a0001a0002a0006others(4): Show | a0001c0023a0002c0032a0006c0009others(5): Show | a0001c0023t0001a0002c0032t0001a0006c0009t0001others(5): Show | a0001c0023t0001g0055 a0002c0032t0001g0079 a0006c0009t0001g0048 others(6): Show |
9 | 78 | 0.1154 | 7 | c.613 others(26): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112458305 | T | TATTTCAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00741.hp2 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0017others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0016 a0001c0001t0002g0014 a0001c0001t0002g0022 others(25): Show |
28 | 78 | 0.3590 | 7 | c.539 others(28): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112526421 | C | CACCCACA | intron_variant | MODIFIER | HG03225.hp1 HG03516.hp1 |
a0016a0017 | a0016c0014a0017c0026 | a0016c0014t0005a0017c0026t0001 | a0016c0014t0005g0040 a0017c0026t0001g0056 |
2 | 78 | 0.0256 | 7 | c.456 others(26): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 27/70 | chr8 | TogoVar |