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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP53_chr18_50222193_50271495 | 50238649 | CATTTATG others(114): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19059.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0112 | 1 | 402 | 0.0025 | -121 | c.121 others(12): Show |
p.Leu others(5): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/8 | 1360/1824 | 1214/1545 | 405/514 | chr18 | TogoVar | ||
CFAP92_chr3_128904873_128999076 | 128944223 | GCACCTGG others(2064): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG03239.hp2 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0296 | 1 | 342 | 0.0029 | -2071 | c.135 others(17): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 10/16 | chr3 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78580810 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG03704.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0171 | 1 | 382 | 0.0026 | 0 | c.107 others(5): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
CHRNG_chr2_232534692_232553115 | 232542869 | T | TGCCTGCC others(1): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02486.hp2 HG02809.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012a0001c0001t0013 | a0001c0001t0010g0054a0001c0001t0012g0052a0001c0001t0013g0025 | 5 | 434 | 0.0115 | 8 | c.605 others(20): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CHST10_chr2_100386860_100422668 | 100415112 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA18972.hp2 NA18980.hp1 NA19003.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0020 | a0001c0002t0001g0026a0001c0002t0001g0122a0001c0002t0020g0053 | 5 | 364 | 0.0137 | 0 | c.-10 others(6): Show |
CHST10 | ENSG00000115526.11 | transcript | ENST00000264249.8 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26627767 | CACCCCTC others(2539): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02083.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0151 | 1 | 344 | 0.0029 | -2546 | c.90- others(15): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/7 | chr2 | TogoVar | ||||||
CLCN7_chr16_1439935_1480028 | 1457328 | TCGGCCCT others(93): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG01993.hp1 | a0003 | a0003c0023 | a0003c0023t0002 | a0003c0023t0002g0323 | 1 | 404 | 0.0025 | -100 | c.739 others(110): Show |
p.Glu others(13): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 739/2418 | 247/805 | chr16 | TogoVar | ||
CLCN7_chr16_1439935_1480028 | 1457328 | TCGGCCCT others(143): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG02622.hp1 HG02622.hp2 |
a0003 | a0003c0016a0003c0021 | a0003c0016t0050a0003c0021t0013 | a0003c0016t0050g0154a0003c0021t0013g0189 | 2 | 404 | 0.0050 | -150 | c.739 others(11): Show |
p.Glu others(13): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 739/2418 | 247/805 | chr16 | TogoVar | ||
CLCN7_chr16_1439935_1480028 | 1457328 | TCGGCCCT others(193): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA19079.hp1 | a0003 | a0003c0013 | a0003c0013t0021 | a0003c0013t0021g0055 | 1 | 404 | 0.0025 | -200 | c.738 others(11): Show |
p.Glu others(13): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 739/2418 | 247/805 | chr16 | TogoVar | ||
CLCN7_chr16_1439935_1480028 | 1457328 | TCGGCCCT others(243): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG01978.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0109 | 1 | 404 | 0.0025 | -250 | c.738 others(11): Show |
p.Glu others(13): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 739/2418 | 247/805 | chr16 | TogoVar | ||
CLDN12_chr7_90398461_90420954 | 90412642 | A | C | splice_acceptor_variant others(1): Show |
HIGH | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 414 | 0.0024 | 0 | c.-33 others(5): Show |
CLDN12 | ENSG00000157224.16 | transcript | ENST00000496677.6 | protein_coding | 3/3 | chr7 | TogoVar | ||||||
CLDN2_chrX_106915402_106935861 | 106928040 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG01123.hp2 HG02257.hp1 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0081a0001c0001t0003g0019a0001c0001t0003g0032others(3): Show | 10 | 255 | 0.0392 | 1 | c.-17 others(7): Show |
CLDN2 | ENSG00000165376.12 | transcript | ENST00000336803.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLEC11A_chr19_50718364_50730708 | 50723904 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG02109.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 2 | 374 | 0.0054 | 0 | c.148 others(5): Show |
CLEC11A | ENSG00000105472.14 | transcript | ENST00000250340.9 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14585083 | TCCTTTCA others(4254): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02109.hp2 | a0009 | a0009c0004 | a0009c0004t0002 | a0009c0004t0002g0084 | 1 | 364 | 0.0028 | -4261 | c.121 others(17): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLEC17A_chr19_14578084_14617035 | 14585489 | TGACTCAG others(4256): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA19063.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0123 | 1 | 364 | 0.0028 | -4263 | c.122 others(17): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLHC1_chr2_55167547_55237293 | 55206377 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | NA18947.hp2 NA18983.hp1 NA19074.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0180a0002c0001t0001g0199a0002c0001t0001g0241 | 3 | 404 | 0.0074 | 1 | c.900 others(6): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 8/12 | chr2 | TogoVar | ||||||
CLPS_chr6_35789982_35802323 | 35795278 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG03688.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0023 | 1 | 418 | 0.0024 | 0 | c.208 others(5): Show |
CLPS | ENSG00000137392.10 | transcript | ENST00000259938.7 | protein_coding | 2/2 | chr6 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79761809 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0353 | 1 | 358 | 0.0028 | 0 | c.112 others(7): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 7/12 | chr5 | TogoVar | ||||||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP2_chr18_74491363_74528454 | 74518947 | A | C | splice_acceptor_variant others(1): Show |
HIGH | NA18987.hp2 | a0009 | a0009c0015 | a0009c0015t0004 | a0009c0015t0004g0258 | 1 | 424 | 0.0024 | 0 | c.121 others(6): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | chr18 | TogoVar | ||||||
CNDP2_chr18_74491363_74528454 | 74518948 | G | A | splice_acceptor_variant others(1): Show |
HIGH | NA18987.hp2 | a0009 | a0009c0015 | a0009c0015t0004 | a0009c0015t0004g0258 | 1 | 424 | 0.0024 | 0 | c.121 others(6): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | chr18 | TogoVar | ||||||
CNKSR1_chr1_26172491_26194884 | 26188770 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 372 | 0.0027 | 0 | c.169 others(6): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 19/20 | chr1 | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32704796 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0338a0001c0001t0001g0339a0001c0001t0001g0340others(12): Show | 15 | 354 | 0.0424 | 1 | c.118 others(6): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0065others(135): Show | 138 | 218 | 0.6330 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTNAP3B_chr9_41885536_42134426 | 42077064 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG02109.hp2 | a0027 | a0027c0026 | a0027c0026t0020 | a0027c0026t0020g0027 | 1 | 108 | 0.0093 | 0 | c.197 others(5): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 2/23 | chr9 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39660809 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG01167.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0244 | 1 | 370 | 0.0027 | 0 | c.298 others(5): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 2/18 | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120280903 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02027.hp1 HG02293.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0002a0001c0001t0020a0002c0002t0001others(4): Show | a0001c0001t0002g0029a0001c0001t0002g0069a0001c0001t0002g0070others(10): Show | 13 | 218 | 0.0596 | 1 | c.368 others(7): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178263111 | TGCACTAG others(1361): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00639.hp1 | a0013 | a0013c0010 | a0013c0010t0002 | a0013c0010t0002g0117 | 1 | 236 | 0.0042 | -1368 | c.523 others(15): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 9/29 | chr5 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7517839 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG01081.hp1 | a0018 | a0018c0023 | a0018c0023t0003 | a0018c0023t0003g0165 | 1 | 196 | 0.0051 | 0 | c.814 others(5): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 6/34 | chr7 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110493115 | GAAATAAC others(27): Show |
G | frameshift_variant others(3): Show |
HIGH | HG03516.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0202 | 1 | 372 | 0.0027 | -34 | c.356 others(46): Show |
p.Gly others(6): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 39/48 | 3563/5139 | 1188/1712 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
COL4A2_chr13_110302284_110518209 | 110506330 | TAGGTGCA others(34): Show |
T | frameshift_variant others(3): Show |
HIGH | HG03490.hp1 HG03492.hp1 |
a0003 | a0003c0010 | a0003c0010t0004 | a0003c0010t0004g0002 | 2 | 372 | 0.0054 | -41 | c.440 others(53): Show |
p.Ala others(6): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 46/48 | 4403/5139 | 1468/1712 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
COL5A3_chr19_9954561_10015504 | 9969393 | CTGGTTCA others(19): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | NA19087.hp1 | a0060 | a0060c0123 | a0060c0123t0001 | a0060c0123t0001g0388 | 1 | 412 | 0.0024 | -26 | c.409 others(38): Show |
p.Gly others(15): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 57/67 | 4226/6207 | 4099/5238 | 1367/1745 | chr19 | TogoVar | ||
COL6A2_chr21_46093112_46134801 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(17): Show | a0001c0001t0001g0035a0001c0001t0001g0114a0001c0001t0001g0155others(80): Show | 100 | 372 | 0.2688 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46137848 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(21): Show | a0001c0001t0001g0036a0001c0001t0001g0114a0001c0002t0001g0322others(80): Show | 97 | 364 | 0.2665 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A5_chr3_130340672_130489846 | 130413180 | CTCCCATG others(873): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00642.hp2 HG01515.hp1 |
a0027 | a0027c0089a0027c0090 | a0027c0089t0002a0027c0090t0002 | a0027c0089t0002g0200a0027c0090t0002g0280 | 2 | 292 | 0.0069 | -880 | c.466 others(15): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/41 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130635698 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp2 | a0008 | a0008c0034 | a0008c0034t0001 | a0008c0034t0001g0102 | 1 | 264 | 0.0038 | 0 | c.502 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | chr3 | TogoVar | ||||||
COMMD4_chr15_75331063_75345273 | 75338353 | A | C | splice_acceptor_variant others(1): Show |
HIGH | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 430 | 0.0023 | 0 | c.76- others(4): Show |
COMMD4 | ENSG00000140365.16 | transcript | ENST00000267935.13 | protein_coding | 2/7 | chr15 | TogoVar | ||||||
COPB1_chr11_14452512_14504811 | 14498987 | T | C | splice_acceptor_variant others(1): Show |
HIGH | NA18964.hp2 NA18966.hp1 NA18989.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351a0001c0001t0001g0352a0001c0001t0001g0353others(5): Show | 8 | 386 | 0.0207 | 0 | c.-57 others(5): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 1/21 | chr11 | TogoVar | ||||||
CORO7_chr16_4349542_4421596 | 4364414 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 297 | 0.0034 | 0 | c.113 others(6): Show |
CORO7 | ENSG00000262246.6 | transcript | ENST00000251166.9 | protein_coding | 13/27 | chr16 | TogoVar | ||||||
CORO7_chr16_4349542_4421596 | 4364691 | T | A | splice_acceptor_variant others(1): Show |
HIGH | NA18962.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0207 | 1 | 297 | 0.0034 | 0 | c.104 others(6): Show |
CORO7 | ENSG00000262246.6 | transcript | ENST00000251166.9 | protein_coding | 12/27 | chr16 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165467673 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp1 HG02486.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0157a0001c0001t0001g0194a0001c0001t0001g0196others(5): Show | 8 | 332 | 0.0241 | 1 | c.505 others(6): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89584767 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp2 HG00621.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0318a0001c0002t0002g0316a0001c0002t0003g0313others(22): Show | 28 | 348 | 0.0805 | 1 | c.508 others(6): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPPED1_chr16_12654799_12808887 | 12697915 | CAGCCTGG others(17541): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG01978.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0181 | 1 | 290 | 0.0035 | -17548 | c.290 others(18): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 3/4 | chr16 | TogoVar | ||||||
CPVL_chr7_28990235_29151537 | 29029404 | GTGTCCAT others(10905): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02129.hp2 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0207 | 1 | 282 | 0.0036 | -10912 | c.113 others(19): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/13 | chr7 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173080581 | ACAGACAG others(3): Show |
A | splice_acceptor_variant others(2): Show |
HIGH | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0179 | 1 | 292 | 0.0034 | -10 | c.-19 others(21): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/9 | 184 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
CRLF2_chrX_1185490_1217649 | 1208908 | G | GCA | splice_acceptor_variant others(1): Show |
HIGH | HG01070.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0140 | 1 | 167 | 0.0060 | 2 | c.80- others(9): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1/7 | chrX | TogoVar | ||||||
CRTC2_chr1_153942675_153963612 | 153948330 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA18992.hp2 | a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0060 | 1 | 370 | 0.0027 | 0 | c.186 others(6): Show |
CRTC2 | ENSG00000160741.17 | transcript | ENST00000368633.2 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
CRTC2_chr1_153942675_153963612 | 153948331 | T | G | splice_acceptor_variant others(1): Show |
HIGH | NA18992.hp2 | a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0060 | 1 | 370 | 0.0027 | 0 | c.186 others(6): Show |
CRTC2 | ENSG00000160741.17 | transcript | ENST00000368633.2 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26616340 | T | G | splice_acceptor_variant others(1): Show |
HIGH | NA19076.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0171 | 1 | 426 | 0.0024 | 0 | c.-19 others(5): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 1/5 | chr22 | TogoVar |