regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSNK2A2_chr16_58152907_58203106 | 58155748 | GGTGTGTG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02738.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0055 | 2 | 400 | 0.0050 | -12 | c.*26 others(23): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 2158 | chr16 | TogoVar | ||||||
CSNK2A2_chr16_58152907_58203106 | 58161518 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0080others(44): Show | 51 | 400 | 0.1275 | -12 | c.*17 others(29): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 11/11 | chr16 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88411367 | ATCTATCT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0150 | 1 | 386 | 0.0026 | -12 | c.-27 others(33): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CSNKA2IP_chr3_88333456_88472594 | 88446026 | TTTCTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01993.hp1 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(3): Show | a0001c0001t0001g0117a0001c0001t0001g0145a0001c0001t0001g0205others(16): Show | 19 | 386 | 0.0492 | -12 | c.-27 others(33): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CSNKA2IP_chr3_88333456_88472594 | 88446030 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00735.hp1 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(9): Show | a0001c0001t0001g0013a0001c0001t0001g0092a0001c0001t0001g0106others(35): Show | 38 | 386 | 0.0985 | -12 | c.-27 others(33): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CSNKA2IP_chr3_88333456_88472594 | 88449818 | GAGACACA others(5): Show |
G | intron_variant | MODIFIER | HG01943.hp1 HG03927.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0181a0001c0001t0001g0194a0001c0001t0002g0340 | 3 | 386 | 0.0078 | -12 | c.-27 others(33): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CSNKA2IP_chr3_88333456_88472594 | 88470731 | TACATACA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01255.hp1 HG03490.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0201a0001c0004t0001g0213a0001c0004t0002g0381 | 3 | 386 | 0.0078 | -12 | c.*31 others(23): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 3138 | chr3 | TogoVar | ||||||
CSPG4_chr15_75669322_75717848 | 75697264 | GCTCTTTG others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0166 | 1 | 374 | 0.0027 | -12 | c.89- others(27): Show |
CSPG4 | ENSG00000173546.7 | transcript | ENST00000308508.5 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67108007 | GGTGGCTC others(5): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0144 | 1 | 158 | 0.0063 | -12 | c.109 others(31): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 9/30 | chr8 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67149947 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 158 | 0.0063 | -12 | c.212 others(27): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CSPP1_chr8_67059392_67201614 | 67159852 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0059a0001c0001t0007g0058 | 2 | 158 | 0.0127 | -12 | c.253 others(29): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CSPP1_chr8_67059392_67201614 | 67159916 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 158 | 0.0063 | -12 | c.253 others(29): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | chr8 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67184943 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp1 others(30): Show |
a0002a0006 | a0002c0002a0002c0007a0006c0008 | a0002c0002t0002a0002c0002t0005a0002c0007t0002others(1): Show | a0002c0002t0002g0009a0002c0002t0002g0110a0002c0002t0002g0111others(30): Show | 33 | 158 | 0.2089 | -12 | c.322 others(31): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 28/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CSPP1_chr8_67059392_67201614 | 67186970 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0029 | 1 | 158 | 0.0063 | -12 | c.322 others(31): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 28/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CSPP1_chr8_67059392_67201614 | 67192062 | ATTTGTTT others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03516.hp2 |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0145a0002c0007t0002g0146 | 2 | 158 | 0.0127 | -12 | c.333 others(31): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CSRNP2_chr12_51056205_51088596 | 51072562 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 2 | 420 | 0.0048 | -12 | c.411 others(29): Show |
CSRNP2 | ENSG00000110925.7 | transcript | ENST00000228515.6 | protein_coding | 3/4 | chr12 | TogoVar | ||||||
CSRNP2_chr12_51056205_51088596 | 51080127 | AGCAGGCA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(50): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0024 | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0020others(25): Show | 53 | 420 | 0.1262 | -12 | c.-87 others(29): Show |
CSRNP2 | ENSG00000110925.7 | transcript | ENST00000228515.6 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165500386 | TATATATG others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG03579.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0010 | a0001c0002t0001g0229a0002c0003t0010g0092 | 2 | 246 | 0.0081 | -12 | c.-11 others(31): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165520783 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 246 | 0.0041 | -12 | c.-24 others(29): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165599279 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0069 | a0001c0001t0054g0021a0001c0001t0069g0035 | 2 | 246 | 0.0081 | -12 | c.148 others(29): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165599283 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG03209.hp2 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0190a0001c0002t0014g0236a0001c0002t0014g0238 | 3 | 246 | 0.0122 | -12 | c.148 others(29): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165625634 | AAAAAAAG others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02145.hp2 HG02257.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(6): Show | a0001c0001t0002g0187a0001c0001t0003g0050a0001c0001t0003g0052others(14): Show | 17 | 246 | 0.0691 | -12 | c.148 others(31): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165642103 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00741.hp1 others(13): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0009a0001c0001t0013a0001c0001t0022others(6): Show | a0001c0001t0009g0098a0001c0001t0013g0109a0001c0001t0013g0201others(13): Show | 16 | 246 | 0.0650 | -12 | c.149 others(31): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165666585 | GGAAGGGA others(5): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 246 | 0.0041 | -12 | c.408 others(29): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165674681 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | NA18972.hp2 NA18984.hp1 NA19009.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0020a0001c0002t0021a0001c0004t0088others(1): Show | a0001c0001t0020g0088a0001c0002t0021g0245a0001c0004t0088g0087others(1): Show | 4 | 246 | 0.0163 | -12 | c.409 others(29): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165681752 | TATATATA others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0038 | a0001c0002t0012g0071a0001c0002t0012g0079a0001c0002t0012g0100others(3): Show | 6 | 246 | 0.0244 | -12 | c.*20 others(23): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 7/7 | 2001 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CSRP1_chr1_201478530_201512123 | 201485965 | TCTGTGCC others(5): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 432 | 0.0023 | -12 | c.412 others(27): Show |
CSRP1 | ENSG00000159176.14 | transcript | ENST00000340006.7 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
CSRP1_chr1_201478530_201512123 | 201501992 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 2 | 432 | 0.0046 | -12 | c.-2+ others(27): Show |
CSRP1 | ENSG00000159176.14 | transcript | ENST00000340006.7 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
CSRP2_chr12_76853709_76884019 | 76869529 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG03688.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0065 | 3 | 388 | 0.0077 | -12 | c.-1- others(27): Show |
CSRP2 | ENSG00000175183.10 | transcript | ENST00000311083.10 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19197337 | TCTCCCTC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01081.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0297a0001c0001t0001g0298others(22): Show | 25 | 416 | 0.0601 | -12 | c.-29 others(29): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19197384 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0223 | 1 | 416 | 0.0024 | -12 | c.-29 others(29): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19197388 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 416 | 0.0024 | -12 | c.-29 others(29): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19197501 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG02109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0118others(11): Show | 14 | 416 | 0.0337 | -12 | c.-29 others(29): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19204705 | TAATAAAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG00741.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(1): Show | 4 | 416 | 0.0096 | -12 | c.-27 others(23): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 2723 | chr11 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23560956 | TTTCCTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 392 | 0.0026 | -12 | c.*39 others(23): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3775 | chr20 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23560964 | TTTCCTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 392 | 0.0026 | -12 | c.*39 others(23): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3767 | chr20 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23561012 | CTTCCTTC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02132.hp1 HG02135.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(4): Show | 8 | 392 | 0.0204 | -12 | c.*39 others(23): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3719 | chr20 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23561020 | CTTCTTTC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | 392 | 0.0102 | -12 | c.*39 others(23): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3711 | chr20 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23561040 | TTTCCTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 392 | 0.0026 | -12 | c.*38 others(23): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3691 | chr20 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23561056 | TTTCCTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 392 | 0.0026 | -12 | c.*38 others(23): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3675 | chr20 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23561064 | TTTCCTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01169.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015 | 5 | 392 | 0.0128 | -12 | c.*38 others(23): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3667 | chr20 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23561072 | TTTCCTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 392 | 0.0026 | -12 | c.*38 others(23): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3659 | chr20 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23561084 | CTTCTTTC others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 392 | 0.0026 | -12 | c.*38 others(23): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3647 | chr20 | TogoVar | ||||||
CSTA_chr3_122320248_122346969 | 122333540 | GAAGAAAG others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00738.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0063a0001c0001t0001g0066a0001c0001t0001g0091others(12): Show | 16 | 378 | 0.0423 | -12 | c.67- others(27): Show |
CSTA | ENSG00000121552.4 | transcript | ENST00000264474.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CSTB_chr21_43768950_43781308 | 43776442 | CGCGCGGG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(235): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(12): Show | 238 | 452 | 0.5266 | -12 | c.-18 others(21): Show |
CSTB | ENSG00000160213.10 | transcript | ENST00000291568.7 | protein_coding | 135 | chr21 | TogoVar | ||||||
CSTF2T_chr10_51690486_51704595 | 51698890 | CCCAGGGC others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG03486.hp2 | a0005 | a0005c0014 | a0005c0014t0002 | a0005c0014t0002g0000 | 1 | 428 | 0.0023 | -12 | c.648 others(19): Show |
p.Pro others(13): Show |
CSTF2T | ENSG00000177613.9 | transcript | ENST00000331173.6 | protein_coding | 1/1 | 705/4110 | 648/1851 | 216/616 | chr10 | TogoVar | ||
CSTF2_chrX_100815391_100846520 | 100845507 | TGCTGCTA others(5): Show |
T | downstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0102 | 1 | 299 | 0.0033 | -12 | c.*47 others(23): Show |
CSTF2 | ENSG00000101811.15 | transcript | ENST00000372972.7 | protein_coding | 3988 | chrX | TogoVar | ||||||
CSTF3_chr11_33079584_33166480 | 33095819 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300a0001c0001t0001g0304 | 2 | 360 | 0.0056 | -12 | c.137 others(29): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 15/20 | chr11 | TogoVar | ||||||
CSTF3_chr11_33079584_33166480 | 33158927 | TGAGACTA others(5): Show |
T | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 360 | 0.0028 | -12 | c.27+ others(27): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
CSTF3_chr11_33079584_33166480 | 33163925 | ATTTTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG03927.hp2 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0086a0001c0001t0002g0111 | 3 | 360 | 0.0083 | -12 | c.-26 others(23): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2446 | chr11 | TogoVar |