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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYBG2_chr1_26316865_26359130 | 26333014 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG01069.hp1 HG01069.hp2 others(50): Show |
a0001a0003a0009others(6): Show | a0001c0002a0001c0015a0001c0042others(10): Show | a0001c0002t0001a0001c0015t0001a0001c0042t0001others(10): Show | a0001c0002t0001g0034 a0001c0002t0001g0159 a0001c0015t0001g0197 others(41): Show |
53 | 133 | 0.3985 | -7 | c.418 others(26): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 14/19 | chr1 | TogoVar | |||||||
CRYGA_chr2_208155740_208168589 | 208157623 | CTTTTGTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(163): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(16): Show |
166 | 392 | 0.4235 | -7 | c.*31 others(18): Show |
CRYGA | ENSG00000168582.5 | transcript | ENST00000304502.5 | protein_coding | 3116 | chr2 | TogoVar | |||||||
CRYGB_chr2_208137573_208151158 | 208142048 | ACATATAG | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp2 others(105): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 others(17): Show |
108 | 412 | 0.2621 | -7 | c.*58 others(16): Show |
CRYGB | ENSG00000182187.4 | transcript | ENST00000260988.5 | protein_coding | 524 | chr2 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20460511 | CTTTTTTT | C | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01258.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0142 others(15): Show |
18 | 22 | 0.8182 | -7 | c.277 others(26): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20521123 | AAGGAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01167.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 others(17): Show |
20 | 248 | 0.0806 | -7 | c.41+ others(22): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33586848 | GGCTGTTC | G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0001t0002g0061 others(12): Show |
15 | 358 | 0.0419 | -7 | c.*29 others(18): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 2492 | chr21 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74705079 | ATAAACTT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(55): Show |
a0001a0002 | a0001c0005a0002c0004a0002c0007 | a0001c0005t0003a0002c0004t0003a0002c0007t0003 | a0001c0005t0003g0011 a0001c0005t0003g0020 a0001c0005t0003g0042 others(42): Show |
58 | 370 | 0.1568 | -7 | c.*12 others(18): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 406 | chr1 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74732597 | CGGGGGGG | C | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01074.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(8): Show | a0001c0001t0001g0215 a0001c0001t0002g0010 a0001c0001t0002g0216 others(27): Show |
40 | 54 | 0.7407 | -7 | c.-14 others(22): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53153467 | TGTATCAA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG02080.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0015 others(15): Show |
32 | 332 | 0.0964 | -7 | c.*50 others(18): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 4195 | chr12 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53179621 | TTTCAATG | T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02486.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0024 a0001c0001t0003g0025 others(2): Show |
13 | 332 | 0.0392 | -7 | c.-90 others(22): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
CSDC2_chr22_41556010_41581666 | 41561074 | ACACACAC | A | 5_prime_UTR_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG00735.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 others(20): Show |
41 | 286 | 0.1434 | -7 | c.-23 others(16): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/4 | 10885 | chr22 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150074305 | GTTTTTTT | G | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013 | a0001c0001t0009g0227 a0001c0001t0009g0229 a0001c0001t0009g0230 others(4): Show |
7 | 187 | 0.0374 | -7 | c.890 others(22): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 5/20 | chr5 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1285628 | GAGCTTGC | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 others(135): Show |
138 | 157 | 0.8790 | -7 | c.77- others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1291278 | TTTTCTTC | T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01169.hp1 others(61): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 others(61): Show |
64 | 157 | 0.4076 | -7 | c.646 others(22): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 7/12 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1304886 | AACTCTTG | A | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01358.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0038 a0001c0001t0002g0023 a0001c0001t0002g0051 others(5): Show |
8 | 157 | 0.0510 | -7 | c.104 others(24): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF3_chr17_40010440_40022813 | 40017473 | CTGGGGAA | C | 3_prime_UTR_variant | MODIFIER | HG02895.hp2 HG03471.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0005 | 4 | 431 | 0.0093 | -7 | c.*51 others(16): Show |
CSF3 | ENSG00000108342.13 | transcript | ENST00000394149.8 | protein_coding | 5/5 | 516 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CSGALNACT1_chr8_19399161_19762277 | 19407906 | TGTGTGTG | T | intron_variant | MODIFIER | HG03471.hp2 HG03486.hp2 |
a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0078 a0002c0003t0020g0101 |
2 | 235 | 0.0085 | -7 | c.130 others(24): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19459382 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG02015.hp2 others(12): Show |
a0001a0002a0004 | a0001c0006a0002c0003a0002c0008others(1): Show | a0001c0006t0002a0002c0003t0003a0002c0003t0004others(5): Show | a0001c0006t0002g0064 a0001c0006t0002g0135 a0001c0006t0002g0136 others(12): Show |
15 | 152 | 0.0987 | -7 | c.635 others(22): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19507528 | GAAAAAAA | G | intron_variant | MODIFIER | HG00140.hp2 HG02622.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0023others(2): Show | a0001c0002t0004g0158 a0001c0002t0005g0075 a0001c0002t0005g0080 others(3): Show |
6 | 95 | 0.0632 | -7 | c.-29 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19618629 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG02886.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0001c0002t0012a0001c0002t0041others(1): Show | a0001c0002t0005g0050 a0001c0002t0005g0074 a0001c0002t0012g0175 others(2): Show |
5 | 43 | 0.1163 | -7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19618650 | AAAAAAAG | A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0006a0001c0002t0023a0002c0003t0005others(1): Show | a0001c0002t0006g0017 a0001c0002t0006g0047 a0001c0002t0023g0096 others(4): Show |
7 | 236 | 0.0297 | -7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19641128 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp2 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(34): Show | a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0083 others(59): Show |
62 | 101 | 0.6139 | -7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19658062 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01099.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0033a0001c0002t0007others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0167 a0001c0001t0033g0044 others(4): Show |
7 | 31 | 0.2258 | -7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19676089 | AACAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01069.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(11): Show | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0006g0152 others(15): Show |
18 | 236 | 0.0763 | -7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT2_chr10_43133445_43190302 | 43146985 | TTTTTGTG | T | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01192.hp1 others(26): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0119 others(18): Show |
29 | 396 | 0.0732 | -7 | c.-25 others(26): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
CSHL1_chr17_63904608_63916258 | 63911803 | ACACTGAC | A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 6 | 436 | 0.0138 | -7 | c.-61 others(16): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 546 | chr17 | TogoVar | |||||||
CSK_chr15_74777080_74808197 | 74793387 | GCCTCCTC | G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01943.hp1 others(11): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0014 a0001c0005t0005g0054 a0001c0005t0005g0055 others(7): Show |
14 | 392 | 0.0357 | -7 | c.-65 others(24): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3017806 | TAAAAAAA | T | intron_variant | MODIFIER | HG02055.hp1 HG02056.hp2 HG02257.hp1 others(3): Show |
a0001a0002a0004others(3): Show | a0001c0071a0002c0074a0004c0034others(3): Show | a0001c0071t0067a0002c0074t0040a0004c0034t0029others(3): Show | a0001c0071t0067g0115 a0002c0074t0040g0031 a0004c0034t0029g0038 others(3): Show |
6 | 96 | 0.0625 | -7 | c.802 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 52/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3083639 | TATATATA | T | intron_variant | MODIFIER | HG01123.hp1 HG03139.hp1 |
a0002a0006 | a0002c0074a0006c0008 | a0002c0074t0040a0006c0008t0082 | a0002c0074t0040g0031 a0006c0008t0082g0126 |
2 | 126 | 0.0159 | -7 | c.747 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3119384 | TAAAAAAA | T | intron_variant | MODIFIER | HG01074.hp1 HG01255.hp2 HG01884.hp1 others(11): Show |
a0001a0002a0008others(6): Show | a0001c0033a0001c0045a0001c0046others(11): Show | a0001c0033t0003a0001c0045t0014a0001c0046t0073others(11): Show | a0001c0033t0003g0059 a0001c0045t0014g0010 a0001c0046t0073g0091 others(11): Show |
14 | 16 | 0.8750 | -7 | c.624 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 41/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3175686 | GCTTCAGA | G | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp2 HG01081.hp2 others(38): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0002a0001c0004others(36): Show | a0001c0001t0002a0001c0002t0026a0001c0002t0061others(38): Show | a0001c0001t0002g0125 a0001c0002t0026g0005 a0001c0002t0061g0069 others(38): Show |
41 | 126 | 0.3254 | -7 | c.572 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 37/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3268289 | ATTTTTTT | A | intron_variant | MODIFIER | HG01934.hp1 HG02257.hp2 HG02723.hp1 others(1): Show |
a0001a0002a0021 | a0001c0003a0001c0007a0002c0075others(1): Show | a0001c0003t0019a0001c0007t0001a0002c0075t0028others(1): Show | a0001c0003t0019g0107 a0001c0007t0001g0035 a0002c0075t0028g0051 others(1): Show |
4 | 46 | 0.0870 | -7 | c.415 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3270046 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp2 HG01074.hp2 others(40): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(38): Show | a0001c0001t0002a0001c0001t0038a0001c0002t0061others(40): Show | a0001c0001t0002g0102 a0001c0001t0038g0017 a0001c0002t0061g0069 others(40): Show |
43 | 85 | 0.5059 | -7 | c.415 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3270928 | TTTATTTA | T | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp2 HG01074.hp2 others(39): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(37): Show | a0001c0001t0002a0001c0001t0038a0001c0002t0061others(39): Show | a0001c0001t0002g0102 a0001c0001t0038g0017 a0001c0002t0061g0069 others(39): Show |
42 | 126 | 0.3333 | -7 | c.415 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3394021 | TATATATA | T | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG02723.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0109a0002c0036a0005c0064others(2): Show | a0001c0109t0037a0002c0036t0030a0005c0064t0050others(2): Show | a0001c0109t0037g0013 a0002c0036t0030g0009 a0005c0064t0050g0078 others(2): Show |
5 | 84 | 0.0595 | -7 | c.259 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3414212 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01261.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0005a0001c0108others(5): Show | a0001c0002t0002a0001c0002t0026a0001c0005t0006others(6): Show | a0001c0002t0002g0083 a0001c0002t0026g0005 a0001c0005t0006g0070 others(6): Show |
9 | 28 | 0.3214 | -7 | c.156 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3429211 | CTGAACGT | C | intron_variant | MODIFIER | HG00099.hp1 HG02486.hp1 HG04204.hp1 |
a0009a0017a0034 | a0009c0097a0017c0101a0034c0055 | a0009c0097t0017a0017c0101t0008a0034c0055t0034 | a0009c0097t0017g0089 a0017c0101t0008g0023 a0034c0055t0034g0047 |
3 | 73 | 0.0411 | -7 | c.156 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3739130 | AGTTAATT | A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01071.hp1 others(6): Show |
a0001a0002a0018others(1): Show | a0001c0061a0001c0079a0001c0080others(6): Show | a0001c0061t0001a0001c0079t0070a0001c0080t0041others(6): Show | a0001c0061t0001g0021 a0001c0079t0070g0113 a0001c0080t0041g0025 others(6): Show |
9 | 126 | 0.0714 | -7 | c.931 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3795904 | TCATGTAC | T | intron_variant | MODIFIER | HG02886.hp2 NA18522.hp2 |
a0002 | a0002c0072a0002c0078 | a0002c0072t0003a0002c0078t0044 | a0002c0072t0003g0066 a0002c0078t0044g0064 |
2 | 123 | 0.0163 | -7 | c.819 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3801632 | AGAAAACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(33): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0038a0001c0002t0002a0001c0002t0026others(33): Show | a0001c0001t0038g0017 a0001c0002t0002g0083 a0001c0002t0026g0005 others(33): Show |
36 | 126 | 0.2857 | -7 | c.819 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0002c0030others(3): Show | a0001c0004t0020a0001c0005t0002a0002c0030t0018others(3): Show | a0001c0004t0020g0086 a0001c0005t0002g0111 a0002c0030t0018g0122 others(3): Show |
6 | 11 | 0.5455 | -7 | c.819 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3919184 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01074.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0001c0006others(15): Show | a0001c0003t0008a0001c0003t0011a0001c0003t0019others(17): Show | a0001c0003t0008g0053 a0001c0003t0011g0026 a0001c0003t0019g0107 others(17): Show |
20 | 28 | 0.7143 | -7 | c.818 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3981500 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp1 others(32): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0038a0001c0002t0002a0001c0003t0011others(32): Show | a0001c0001t0038g0017 a0001c0002t0002g0083 a0001c0003t0011g0026 others(32): Show |
35 | 56 | 0.6250 | -7 | c.818 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4042815 | TAAAAAAA | T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02622.hp1 others(3): Show |
a0001a0002a0016others(1): Show | a0001c0017a0001c0085a0002c0030others(3): Show | a0001c0017t0005a0001c0085t0020a0002c0030t0018others(3): Show | a0001c0017t0005g0003 a0001c0085t0020g0060 a0002c0030t0018g0122 others(3): Show |
6 | 28 | 0.2143 | -7 | c.416 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4138044 | ATTTTTTT | A | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02622.hp1 others(2): Show |
a0001a0002a0008others(1): Show | a0001c0043a0002c0030a0002c0032others(2): Show | a0001c0043t0031a0002c0030t0018a0002c0032t0053others(2): Show | a0001c0043t0031g0044 a0002c0030t0018g0122 a0002c0032t0053g0061 others(2): Show |
5 | 10 | 0.5000 | -7 | c.416 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4146594 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp2 HG02451.hp2 others(5): Show |
a0001a0002a0016others(2): Show | a0001c0005a0001c0021a0002c0022others(5): Show | a0001c0005t0006a0001c0021t0005a0002c0022t0035others(5): Show | a0001c0005t0006g0070 a0001c0021t0005g0012 a0002c0022t0035g0048 others(5): Show |
8 | 42 | 0.1905 | -7 | c.416 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4201540 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG03098.hp1 others(5): Show |
a0001a0002a0014others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0038a0001c0002t0026a0001c0006t0060others(5): Show | a0001c0001t0038g0017 a0001c0002t0026g0005 a0001c0006t0060g0103 others(5): Show |
8 | 12 | 0.6667 | -7 | c.416 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4212751 | CTTTTTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG02074.hp2 others(5): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0091a0004c0034others(5): Show | a0001c0001t0002a0002c0091t0002a0004c0034t0029others(5): Show | a0001c0001t0002g0102 a0002c0091t0002g0114 a0004c0034t0029g0038 others(5): Show |
8 | 28 | 0.2857 | -7 | c.416 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4510390 | TAAAAAAA | T | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01081.hp1 others(18): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0003t0008a0001c0004t0020a0001c0005t0002others(18): Show | a0001c0003t0008g0053 a0001c0004t0020g0086 a0001c0005t0002g0111 others(18): Show |
21 | 22 | 0.9545 | -7 | c.303 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4557766 | ATGGCACG | A | intron_variant | MODIFIER | HG01071.hp2 HG01123.hp2 HG01243.hp1 others(10): Show |
a0001a0002a0004others(5): Show | a0001c0003a0001c0019a0001c0039others(10): Show | a0001c0003t0008a0001c0019t0078a0001c0039t0064others(10): Show | a0001c0003t0008g0053 a0001c0019t0078g0105 a0001c0039t0064g0080 others(10): Show |
13 | 126 | 0.1032 | -7 | c.302 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar |