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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSNKA2IP_chr3_88333456_88472594 | 88449872 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18943.hp1 NA18952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(5): Show |
8 | 386 | 0.0207 | 8 | c.-27 others(29): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88449874 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03669.hp1 NA18612.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 others(11): Show |
14 | 386 | 0.0363 | 8 | c.-27 others(29): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88470698 | G | GTGTATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG02683.hp2 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0001 | a0002c0002t0001g0044 a0004c0005t0001g0115 a0004c0005t0001g0225 |
3 | 386 | 0.0078 | 8 | c.*31 others(19): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 3105 | chr3 | TogoVar | |||||||
CSNKA2IP_chr3_88333456_88472594 | 88470731 | T | TATATACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG03710.hp1 HG03942.hp2 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0057 a0003c0003t0001g0074 a0003c0003t0001g0075 others(11): Show |
14 | 386 | 0.0363 | 8 | c.*31 others(19): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 3138 | chr3 | TogoVar | |||||||
CSPG4_chr15_75669322_75717848 | 75681353 | C | CCAGCAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(144): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0008others(24): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0005others(27): Show | a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0010g0059 others(90): Show |
147 | 374 | 0.3931 | 8 | c.495 others(25): Show |
CSPG4 | ENSG00000173546.7 | transcript | ENST00000308508.5 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
CSPP1_chr8_67059392_67201614 | 67104949 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18952.hp2 NA18961.hp1 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0013 a0003c0003t0001g0015 a0003c0003t0001g0017 others(7): Show |
10 | 158 | 0.0633 | 8 | c.102 others(25): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67159956 | T | TTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02486.hp1 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0003 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0002c0004t0003g0033 others(1): Show |
4 | 158 | 0.0253 | 8 | c.253 others(25): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | chr8 | TogoVar | |||||||
CSPP1_chr8_67059392_67201614 | 67186970 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01261.hp1 HG02293.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0073 others(7): Show |
10 | 158 | 0.0633 | 8 | c.322 others(27): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 28/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CSRNP2_chr12_51056205_51088596 | 51072562 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00639.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0047 others(20): Show |
34 | 420 | 0.0810 | 8 | c.411 others(25): Show |
CSRNP2 | ENSG00000110925.7 | transcript | ENST00000228515.6 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
CSRNP3_chr2_165464698_165694407 | 165515338 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG02723.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0079a0001c0002t0005a0001c0002t0006 | a0001c0001t0079g0102 a0001c0002t0005g0001 a0001c0002t0006g0104 |
3 | 246 | 0.0122 | 8 | c.-11 others(27): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165521173 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(15): Show | a0001c0001t0002g0232 a0001c0001t0003g0225 a0001c0001t0007g0207 others(20): Show |
23 | 246 | 0.0935 | 8 | c.-24 others(25): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165599283 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00673.hp1 others(31): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(21): Show | a0001c0001t0002g0008 a0001c0001t0002g0113 a0001c0001t0002g0230 others(31): Show |
34 | 246 | 0.1382 | 8 | c.148 others(25): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165611363 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02622.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0017others(1): Show | a0001c0001t0002g0187 a0001c0001t0003g0050 a0001c0001t0003g0052 others(7): Show |
10 | 246 | 0.0407 | 8 | c.148 others(27): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165611379 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp2 others(71): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(43): Show | a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0023 others(71): Show |
74 | 246 | 0.3008 | 8 | c.148 others(27): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165665775 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18974.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0029a0001c0001t0056a0002c0003t0010 | a0001c0001t0029g0186 a0001c0001t0056g0183 a0002c0003t0010g0067 |
3 | 246 | 0.0122 | 8 | c.408 others(25): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165666621 | A | AGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02071.hp1 NA18747.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0003g0185 a0001c0002t0001g0128 a0001c0002t0001g0205 others(3): Show |
6 | 246 | 0.0244 | 8 | c.408 others(25): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165667145 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | NA18972.hp2 NA18984.hp1 NA19009.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0020a0001c0002t0021a0001c0004t0088others(1): Show | a0001c0001t0020g0088 a0001c0002t0021g0245 a0001c0004t0088g0087 others(1): Show |
4 | 246 | 0.0163 | 8 | c.408 others(25): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165674681 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02071.hp2 HG02132.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(5): Show | a0001c0001t0002g0134 a0001c0001t0002g0232 a0001c0001t0004g0022 others(9): Show |
12 | 246 | 0.0488 | 8 | c.409 others(25): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165681726 | C | CATATATA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp2 HG02723.hp2 NA18522.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0030a0001c0001t0075others(3): Show | a0001c0001t0029g0126 a0001c0001t0029g0186 a0001c0001t0030g0120 others(4): Show |
7 | 246 | 0.0285 | 8 | c.*20 others(19): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 7/7 | 2009 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRP1_chr1_201478530_201512123 | 201501992 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01257.hp1 others(49): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0049 others(36): Show |
52 | 432 | 0.1204 | 8 | c.-2+ others(23): Show |
CSRP1 | ENSG00000159176.14 | transcript | ENST00000340006.7 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
CSRP2_chr12_76853709_76884019 | 76869529 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG01928.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0001g0115 others(8): Show |
11 | 388 | 0.0284 | 8 | c.-1- others(23): Show |
CSRP2 | ENSG00000175183.10 | transcript | ENST00000311083.10 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
CSRP3_chr11_19177030_19206983 | 19188613 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01346.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0172 others(6): Show |
9 | 416 | 0.0216 | 8 | c.113 others(23): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
CSRP3_chr11_19177030_19206983 | 19197501 | C | CTCTTTCG others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03471.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0240 others(1): Show |
4 | 416 | 0.0096 | 8 | c.-29 others(25): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CSRP3_chr11_19177030_19206983 | 19197501 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(58): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0003t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(44): Show |
61 | 416 | 0.1466 | 8 | c.-29 others(25): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CST1_chr20_23742562_23755935 | 23747001 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG02055.hp1 others(13): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0002t0001a0005c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0002t0001g0004 others(3): Show |
16 | 472 | 0.0339 | 8 | c.*81 others(17): Show |
CST1 | ENSG00000170373.9 | transcript | ENST00000304749.7 | protein_coding | 560 | chr20 | TogoVar | |||||||
CST4_chr20_23680640_23694038 | 23685075 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG01258.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0051 a0001c0001t0002g0003 a0001c0001t0002g0014 others(5): Show |
28 | 452 | 0.0620 | 8 | c.*81 others(17): Show |
CST4 | ENSG00000101441.5 | transcript | ENST00000217423.4 | protein_coding | 564 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23560913 | C | CTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01192.hp1 HG01261.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(1): Show |
15 | 392 | 0.0383 | 8 | c.*40 others(19): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3818 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23561076 | C | CTTCTTTC others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 NA18941.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0055 |
3 | 392 | 0.0077 | 8 | c.*38 others(19): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3655 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23570011 | G | GTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(121): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0055 a0001c0001t0002g0031 others(11): Show |
124 | 392 | 0.3163 | 8 | c.-15 others(19): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 1528 | chr20 | TogoVar | |||||||
CSTA_chr3_122320248_122346969 | 122333540 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01884.hp1 HG02027.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0074 others(12): Show |
20 | 378 | 0.0529 | 8 | c.67- others(23): Show |
CSTA | ENSG00000121552.4 | transcript | ENST00000264474.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSTA_chr3_122320248_122346969 | 122333548 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01496.hp1 HG02027.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0017 others(6): Show |
21 | 378 | 0.0556 | 8 | c.67- others(23): Show |
CSTA | ENSG00000121552.4 | transcript | ENST00000264474.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSTA_chr3_122320248_122346969 | 122335613 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02717.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 |
3 | 378 | 0.0079 | 8 | c.67- others(23): Show |
CSTA | ENSG00000121552.4 | transcript | ENST00000264474.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSTF2T_chr10_51690486_51704595 | 51704242 | C | CAGATAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 NA18993.hp2 NA19006.hp2 |
a0001a0010 | a0001c0002a0010c0012 | a0001c0002t0003a0001c0002t0018a0010c0012t0003 | a0001c0002t0003g0000 a0001c0002t0018g0000 a0010c0012t0003g0000 |
3 | 428 | 0.0070 | 8 | c.-46 others(19): Show |
CSTF2T | ENSG00000177613.9 | transcript | ENST00000331173.6 | protein_coding | 4648 | chr10 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33095819 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01109.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 others(22): Show |
25 | 360 | 0.0694 | 8 | c.137 others(25): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 15/20 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33113206 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0273 a0001c0001t0001g0319 others(2): Show |
5 | 360 | 0.0139 | 8 | c.226 others(25): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 3/20 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33166264 | A | ATGTAAGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 NA18522.hp2 NA18979.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0002g0129 others(2): Show |
5 | 360 | 0.0139 | 8 | c.-49 others(19): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 4785 | chr11 | TogoVar | |||||||
CSTPP1_chr11_46931761_47167247 | 46939631 | C | CATAGATA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02165.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0090 |
3 | 224 | 0.0134 | 8 | c.46+ others(23): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47065977 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03654.hp2 NA18960.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 others(3): Show |
6 | 224 | 0.0268 | 8 | c.280 others(27): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47101164 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01496.hp1 HG01978.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0139 others(3): Show |
6 | 224 | 0.0268 | 8 | c.281 others(27): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47110890 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00609.hp2 others(52): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(52): Show |
55 | 224 | 0.2455 | 8 | c.281 others(27): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0163 others(3): Show |
6 | 224 | 0.0268 | 8 | c.281 others(27): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | AAAATATA others(1): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02300.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0146 others(2): Show |
5 | 224 | 0.0223 | 8 | c.281 others(27): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CS_chr12_56266699_56305330 | 56295951 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01516.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0255 others(3): Show |
8 | 316 | 0.0253 | 8 | c.42+ others(23): Show |
CS | ENSG00000062485.19 | transcript | ENST00000351328.8 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
CT45A10_chrX_135876065_135898444 | 135880563 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 258 | 0.0039 | 8 | c.*69 others(17): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 501 | chrX | TogoVar | |||||||
CT45A10_chrX_135876065_135898444 | 135894987 | A | AGTTTGTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(29): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0012 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0095 a0001c0002t0001g0002 a0001c0002t0001g0009 others(15): Show |
32 | 258 | 0.1240 | 8 | c.-16 others(19): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 1544 | chrX | TogoVar | |||||||
CT45A1_chrX_135708639_135728228 | 135712937 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 NA18940.hp1 NA18945.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0003a0004c0003t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(3): Show |
6 | 57 | 0.1053 | 8 | c.-76 others(17): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 701 | chrX | TogoVar | |||||||
CT45A1_chrX_135708639_135728228 | 135723933 | G | GTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG02818.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 2 | 57 | 0.0351 | 8 | c.*90 others(17): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 706 | chrX | TogoVar | |||||||
CT45A1_chrX_135708639_135728228 | 135723952 | G | GTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(15): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(9): Show |
18 | 57 | 0.3158 | 8 | c.*91 others(17): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 725 | chrX | TogoVar | |||||||
CT45A2_chrX_135806668_135825012 | 135811481 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0012 |
3 | 22 | 0.1364 | 8 | c.*69 others(17): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 186 | chrX | TogoVar | |||||||
CT45A2_chrX_135806668_135825012 | 135821173 | G | GAGAAAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 22 | 0.0455 | 8 | c.-14 others(19): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1162 | chrX | TogoVar |