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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTNNA3_chr10_65907523_67701195 | 66644302 | CTCTCTAT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03195.hp1 HG06807.hp1 |
a0001a0002a0004 | a0001c0007a0002c0002a0004c0008 | a0001c0007t0015a0002c0002t0001a0004c0008t0005 | a0001c0007t0015g0016a0002c0002t0001g0035a0004c0008t0005g0033 | 3 | 46 | 0.0652 | -8 | c.128 others(29): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 9/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66644304 | CTCTATAT others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0008a0001c0001t0009a0001c0003t0022others(1): Show | a0001c0001t0008g0004a0001c0001t0009g0031a0001c0003t0022g0022others(1): Show | 4 | 46 | 0.0870 | -8 | c.128 others(29): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 9/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66652097 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02145.hp2 HG02280.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0006a0001c0001t0002g0009a0001c0001t0002g0024others(25): Show | 28 | 46 | 0.6087 | -8 | c.128 others(29): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 9/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66676108 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02280.hp2 HG06807.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0016a0001c0001t0023others(3): Show | a0001c0001t0004g0043a0001c0001t0016g0003a0001c0001t0023g0011others(3): Show | 6 | 46 | 0.1304 | -8 | c.128 others(29): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 9/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66806756 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0006a0001c0004t0001a0001c0005t0010 | a0001c0001t0006g0027a0001c0004t0001g0018a0001c0005t0010g0034 | 3 | 46 | 0.0652 | -8 | c.104 others(29): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66840370 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02922.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0014 | a0001c0001t0003g0023a0001c0003t0014g0025 | 2 | 46 | 0.0435 | -8 | c.104 others(29): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66909510 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01081.hp1 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0015a0001c0001t0002g0009a0001c0001t0003g0023others(22): Show | 25 | 46 | 0.5435 | -8 | c.104 others(31): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66951088 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG06807.hp2 |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0009a0001c0005t0010a0002c0002t0003 | a0001c0001t0009g0031a0001c0005t0010g0029a0002c0002t0003g0039 | 3 | 46 | 0.0652 | -8 | c.104 others(31): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66978063 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0023a0001c0001t0005g0010a0001c0001t0006g0007others(6): Show | 9 | 46 | 0.1957 | -8 | c.104 others(31): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67079858 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG06807.hp1 NA18960.hp2 |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0008 | a0001c0003t0008a0002c0002t0017a0004c0008t0005 | a0001c0003t0008g0002a0002c0002t0017g0040a0004c0008t0005g0033 | 3 | 46 | 0.0652 | -8 | c.104 others(31): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67302002 | CGAAAGAA others(1): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0003 | a0001c0001t0006g0027a0002c0002t0003g0039 | 2 | 46 | 0.0435 | -8 | c.580 others(27): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67524395 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG03579.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0008a0001c0001t0019a0001c0001t0020others(4): Show | a0001c0001t0008g0004a0001c0001t0019g0019a0001c0001t0020g0030others(4): Show | 7 | 46 | 0.1522 | -8 | c.460 others(25): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 4/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67579026 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG03195.hp2 HG06807.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0018a0002c0002t0003 | a0001c0003t0018g0037a0002c0002t0003g0039 | 2 | 46 | 0.0435 | -8 | c.292 others(27): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 3/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67620923 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02280.hp1 HG02622.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0024a0001c0001t0003g0023a0001c0001t0004g0041others(9): Show | 12 | 46 | 0.2609 | -8 | c.100 others(27): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 2/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67632126 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp1 HG02895.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0009a0001c0001t0020a0001c0003t0011others(2): Show | a0001c0001t0009g0031a0001c0001t0020g0030a0001c0003t0011g0032others(2): Show | 5 | 46 | 0.1087 | -8 | c.99+ others(25): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 2/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67692736 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | NA18612.hp2 NA18960.hp2 NA18964.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003a0002c0002t0017 | a0001c0001t0004g0041a0001c0001t0004g0043a0002c0002t0003g0042others(1): Show | 4 | 46 | 0.0870 | -8 | c.-6+ others(23): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 1/17 | chr10 | TogoVar | ||||||
CTNNAL1_chr9_108937577_109018499 | 109016656 | GTGTTTTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0031a0001c0001t0001g0298a0001c0001t0001g0300others(5): Show | 9 | 420 | 0.0214 | -8 | c.-32 others(19): Show |
CTNNAL1 | ENSG00000119326.15 | transcript | ENST00000325551.9 | protein_coding | 3158 | chr9 | TogoVar | ||||||
CTNNBIP1_chr1_9843276_9915269 | 9876845 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0012a0001c0001t0003g0251a0001c0001t0003g0276others(13): Show | 18 | 310 | 0.0581 | -8 | c.-25 others(25): Show |
CTNNBIP1 | ENSG00000178585.15 | transcript | ENST00000377263.6 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
CTNNBL1_chr20_37689030_37877118 | 37722473 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00558.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0016others(53): Show | 57 | 266 | 0.2143 | -8 | c.31- others(25): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CTNNBL1_chr20_37689030_37877118 | 37739078 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01243.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(27): Show | 32 | 266 | 0.1203 | -8 | c.326 others(25): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CTNNBL1_chr20_37689030_37877118 | 37831367 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(208): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(206): Show | 211 | 266 | 0.7932 | -8 | c.121 others(27): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CTNNBL1_chr20_37689030_37877118 | 37874451 | TTTAATGA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0021others(93): Show | 98 | 266 | 0.3684 | -8 | c.*24 others(19): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 2334 | chr20 | TogoVar | ||||||
CTNND1_chr11_57756802_57824540 | 57774691 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(96): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0011 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(88): Show | 99 | 288 | 0.3438 | -8 | c.-21 others(29): Show |
CTNND1 | ENSG00000198561.16 | transcript | ENST00000399050.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CTNND2_chr5_10966836_11909446 | 10985075 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0016others(3): Show | 6 | 26 | 0.2308 | -8 | c.334 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 20/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11081072 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG02647.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0015 | 2 | 26 | 0.0769 | -8 | c.278 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 16/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11101887 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG03225.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0021a0001c0002t0001g0006a0001c0009t0001g0008 | 3 | 26 | 0.1154 | -8 | c.246 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 14/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11439740 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0003g0026others(2): Show | 5 | 26 | 0.1923 | -8 | c.288 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11547268 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02647.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0021a0001c0002t0001g0001others(4): Show | 7 | 26 | 0.2692 | -8 | c.287 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11592154 | TCCTGCCT others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02647.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0016others(9): Show | 12 | 26 | 0.4615 | -8 | c.175 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11623796 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0003g0026 | 2 | 26 | 0.0769 | -8 | c.175 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11625389 | ATCTCTCT others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0026a0001c0002t0001g0013 | 2 | 26 | 0.0769 | -8 | c.175 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11646630 | GAAATATC others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02647.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0012others(12): Show | 15 | 26 | 0.5769 | -8 | c.175 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11653070 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG03453.hp1 HG03453.hp2 NA18522.hp2 |
a0001a0002 | a0001c0001a0001c0005a0002c0008 | a0001c0001t0001a0001c0005t0001a0002c0008t0001 | a0001c0001t0001g0018a0001c0005t0001g0020a0002c0008t0001g0014 | 3 | 26 | 0.1154 | -8 | c.174 others(27): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11756647 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0026a0001c0002t0001g0013 | 2 | 26 | 0.0769 | -8 | c.38- others(25): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11788301 | GCTAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG02258.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0009others(15): Show | 18 | 26 | 0.6923 | -8 | c.38- others(25): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11864883 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0018a0001c0001t0001g0021a0001c0001t0001g0024others(1): Show | 4 | 26 | 0.1539 | -8 | c.37+ others(25): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3641355 | GATACATA others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00741.hp1 others(23): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0072a0001c0001t0002g0001a0001c0001t0002g0012others(16): Show | 26 | 372 | 0.0699 | -8 | c.61+ others(23): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3642142 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(95): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0072a0001c0001t0002g0001others(82): Show | 98 | 372 | 0.2634 | -8 | c.61+ others(23): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTPS2_chrX_16582999_16717669 | 16583983 | CCTCAGCT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0009a0001c0001t0003g0140a0001c0001t0003g0141others(8): Show | 11 | 226 | 0.0487 | -8 | c.*58 others(19): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4015 | chrX | TogoVar | ||||||
CTPS2_chrX_16582999_16717669 | 16639777 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01169.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0035a0001c0001t0001g0083others(17): Show | 20 | 226 | 0.0885 | -8 | c.129 others(25): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | ||||||
CTPS2_chrX_16582999_16717669 | 16647255 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 226 | 0.0044 | -8 | c.129 others(27): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | ||||||
CTPS2_chrX_16582999_16717669 | 16668770 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01255.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0001g0142others(6): Show | 9 | 226 | 0.0398 | -8 | c.119 others(27): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | TogoVar | ||||||
CTPS2_chrX_16582999_16717669 | 16697432 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 226 | 0.0044 | -8 | c.438 others(23): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | TogoVar | ||||||
CTSC_chr11_88288592_88342736 | 88290844 | CATATATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp2 others(68): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(47): Show | 71 | 434 | 0.1636 | -8 | c.*31 others(19): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2747 | chr11 | TogoVar | ||||||
CTSC_chr11_88288592_88342736 | 88291569 | TGAAAGAA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00673.hp2 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(74): Show | 98 | 434 | 0.2258 | -8 | c.*24 others(19): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2022 | chr11 | TogoVar | ||||||
CTSC_chr11_88288592_88342736 | 88309812 | GCGCACAC others(1): Show |
G | intron_variant | MODIFIER | NA18940.hp2 NA18968.hp2 NA18993.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095a0002c0002t0001g0097a0002c0002t0001g0098others(1): Show | 4 | 434 | 0.0092 | -8 | c.486 others(23): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 3/6 | chr11 | TogoVar | ||||||
CTSD_chr11_1747755_1768927 | 1754525 | GGGGATGG others(1): Show |
G | intron_variant | MODIFIER | HG02056.hp1 HG02074.hp2 HG02135.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0107a0001c0001t0002g0045a0001c0002t0001g0033others(2): Show | 8 | 386 | 0.0207 | -8 | c.827 others(23): Show |
CTSD | ENSG00000117984.15 | transcript | ENST00000236671.7 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
CTSH_chr15_78916058_78950046 | 78930537 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp1 others(75): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0010a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(59): Show | 78 | 414 | 0.1884 | -8 | c.548 others(23): Show |
CTSH | ENSG00000103811.18 | transcript | ENST00000220166.10 | protein_coding | 7/11 | chr15 | TogoVar | ||||||
CTSK_chr1_150791208_150813260 | 150807074 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0103 | 6 | 392 | 0.0153 | -8 | c.-1- others(21): Show |
CTSK | ENSG00000143387.14 | transcript | ENST00000271651.8 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
CTSK_chr1_150791208_150813260 | 150807078 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(94): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(29): Show | 97 | 392 | 0.2475 | -8 | c.-1- others(21): Show |
CTSK | ENSG00000143387.14 | transcript | ENST00000271651.8 | protein_coding | 1/7 | chr1 | TogoVar |