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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A2_chr13_110302284_110518209 | 110355566 | TAGCTCAC others(23): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00609.hp2 others(44): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0003g0092 others(44): Show |
47 | 367 | 0.1281 | -30 | c.100 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481112 | GTTGCTGG others(23): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03516.hp2 |
a0002a0003 | a0002c0013a0003c0007 | a0002c0013t0005a0003c0007t0008 | a0002c0013t0005g0035 a0003c0007t0008g0038 |
2 | 369 | 0.0054 | -30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481128 | AGTTCTGT others(23): Show |
A | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0093 | 1 | 285 | 0.0035 | -30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481142 | ATTGCTGG others(23): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0094 | a0003c0094t0025 | a0003c0094t0025g0175 | 1 | 173 | 0.0058 | -30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481288 | TTCCGTTG others(23): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG03579.hp2 |
a0003 | a0003c0010a0003c0068 | a0003c0010t0006a0003c0068t0024 | a0003c0010t0006g0017 a0003c0010t0006g0018 a0003c0068t0024g0247 |
3 | 175 | 0.0171 | -30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481432 | CTGTCCCT others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG03579.hp2 others(1): Show |
a0001a0003 | a0001c0101a0003c0010a0003c0068 | a0001c0101t0019a0003c0010t0006a0003c0068t0024 | a0001c0101t0019g0129 a0003c0010t0006g0017 a0003c0010t0006g0018 others(1): Show |
4 | 370 | 0.0108 | -30 | c.275 others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481742 | GTTGCTGG others(23): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02809.hp1 others(1): Show |
a0003a0015 | a0003c0039a0003c0040a0003c0118others(1): Show | a0003c0039t0008a0003c0040t0001a0003c0118t0036others(1): Show | a0003c0039t0008g0027 a0003c0040t0001g0203 a0003c0118t0036g0139 others(1): Show |
4 | 241 | 0.0166 | -30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481949 | GTGCTGGA others(23): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0017 | 1 | 341 | 0.0029 | -30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481978 | GTTGCTGG others(23): Show |
G | intron_variant | MODIFIER | HG01943.hp2 HG02559.hp1 HG02723.hp1 others(4): Show |
a0001a0002a0003 | a0001c0046a0002c0097a0002c0111others(4): Show | a0001c0046t0034a0002c0097t0015a0002c0111t0015others(4): Show | a0001c0046t0034g0007 a0002c0097t0015g0260 a0002c0111t0015g0368 others(4): Show |
7 | 365 | 0.0192 | -30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110493051 | AGGTGAAA others(23): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(265): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(86): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(166): Show | a0001c0001t0001g0153 a0001c0001t0001g0189 a0001c0001t0001g0190 others(264): Show |
268 | 369 | 0.7263 | -30 | c.356 others(46): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227193840 | GAGAAGGA others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00609.hp1 others(85): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0047a0002c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(32): Show | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 others(85): Show |
88 | 342 | 0.2573 | -30 | c.87+ others(47): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203489 | GTATATGT others(23): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01934.hp2 others(15): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0004a0002c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0002c0004t0001others(10): Show | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0094 others(15): Show |
18 | 93 | 0.1935 | -30 | c.88- others(47): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108521530 | TCTTCTAT others(23): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 267 | 0.0037 | -30 | c.82- others(47): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134669212 | TTTCCCTT others(23): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG01993.hp1 HG02273.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0041 a0001c0001t0002g0220 a0001c0001t0009g0233 others(6): Show |
9 | 212 | 0.0425 | -30 | c.110 others(49): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134712166 | TCTTCTTC others(23): Show |
T | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 73 | 0.0137 | -30 | c.654 others(49): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134751123 | GCCCCGAG others(23): Show |
G | intron_variant | MODIFIER | HG01256.hp2 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0021 | a0001c0001t0004a0003c0021t0001 | a0001c0001t0004g0102 a0003c0021t0001g0166 |
2 | 221 | 0.0090 | -30 | c.166 others(47): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 13/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237332070 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01255.hp2 others(29): Show |
a0003a0004a0005others(7): Show | a0003c0031a0003c0039a0003c0089others(17): Show | a0003c0031t0003a0003c0039t0001a0003c0039t0002others(21): Show | a0003c0031t0003g0192 a0003c0031t0003g0194 a0003c0039t0001g0174 others(29): Show |
32 | 225 | 0.1422 | -30 | c.932 others(49): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237343514 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01943.hp2 others(16): Show |
a0001a0004a0009others(4): Show | a0001c0014a0001c0068a0001c0087others(10): Show | a0001c0014t0001a0001c0068t0001a0001c0087t0001others(15): Show | a0001c0014t0001g0127 a0001c0068t0001g0136 a0001c0087t0001g0146 others(16): Show |
19 | 59 | 0.3220 | -30 | c.766 others(47): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130590279 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02559.hp2 others(2): Show |
a0003a0004a0013others(1): Show | a0003c0029a0004c0071a0013c0028others(1): Show | a0003c0029t0002a0004c0071t0004a0013c0028t0004others(2): Show | a0003c0029t0002g0036 a0004c0071t0004g0200 a0013c0028t0004g0199 others(2): Show |
5 | 258 | 0.0194 | -30 | c.421 others(47): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590283 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(6): Show |
a0004a0007a0010others(2): Show | a0004c0013a0007c0017a0007c0084others(3): Show | a0004c0013t0003a0007c0017t0006a0007c0084t0002others(5): Show | a0004c0013t0003g0262 a0007c0017t0006g0079 a0007c0084t0002g0083 others(6): Show |
9 | 261 | 0.0345 | -30 | c.421 others(47): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 419148 | CTTCTATT others(23): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0013 | a0003c0013t0113 | a0003c0013t0113g0246 | 1 | 67 | 0.0149 | -30 | c.58+ others(47): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130513345 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0007a0001c0002t0011others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0002t0007g0236 others(3): Show |
6 | 305 | 0.0197 | -30 | c.215 others(49): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130646958 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0266 a0001c0001t0001g0268 others(68): Show |
72 | 84 | 0.8571 | -30 | c.323 others(47): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130646983 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | 323 | 0.0124 | -30 | c.323 others(47): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
COPS5_chr8_67038079_67067133 | 67041994 | CACACACA others(23): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 290 | 0.0034 | -30 | c.*12 others(41): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 1084 | chr8 | TogoVar | |||||||
COPS5_chr8_67038079_67067133 | 67056684 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 2 | 286 | 0.0070 | -30 | c.574 others(44): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
COQ10B_chr2_197448552_197480310 | 197455127 | TGGGTAGG others(23): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 a0001c0003t0001g0038 a0001c0003t0001g0039 |
4 | 388 | 0.0103 | -30 | c.104 others(47): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226944720 | AGAGAGAG others(23): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00621.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0072 a0001c0001t0001g0249 others(29): Show |
34 | 410 | 0.0829 | -30 | c.-10 others(47): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226956696 | TCTCCCTG others(23): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 410 | 0.0024 | -30 | c.-9- others(45): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CORO1A_chr16_30178602_30194076 | 30190212 | ATATATTT others(23): Show |
A | downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 337 | 0.0030 | -30 | c.*12 others(41): Show |
CORO1A | ENSG00000102879.17 | transcript | ENST00000219150.10 | protein_coding | 1137 | chr16 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68650356 | TAAAAAAA others(23): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp1 others(27): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0176 a0001c0001t0002g0080 others(27): Show |
30 | 118 | 0.2542 | -30 | c.216 others(47): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
COX10_chr17_14064504_14213677 | 14210395 | CTTTTTTT others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0003g0105 a0001c0001t0003g0155 a0001c0001t0004g0112 others(105): Show |
109 | 220 | 0.4955 | -30 | c.*31 others(41): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 1719 | chr17 | TogoVar | |||||||
COX16_chr14_70320081_70364683 | 70330421 | TTGCCAGT others(23): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0124 |
2 | 374 | 0.0053 | -30 | c.142 others(47): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67607169 | CTCTTCTT others(23): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 HG03491.hp1 |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0009 | a0001c0001t0001a0002c0002t0001a0008c0009t0004 | a0001c0001t0001g0116 a0002c0002t0001g0039 a0008c0009t0004g0110 |
3 | 41 | 0.0732 | -30 | c.192 others(49): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPED1_chr7_120983711_121302442 | 121047646 | TTTCTTCT others(23): Show |
T | intron_variant | MODIFIER | HG04184.hp1 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0011 | a0001c0001t0001g0086 a0002c0002t0011g0132 |
2 | 21 | 0.0952 | -30 | c.540 others(45): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121098737 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG02486.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0005g0016 |
3 | 138 | 0.0217 | -30 | c.749 others(45): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPHXL_chr16_75709131_75731490 | 75729796 | TTTTTTTT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 386 | 0.0026 | -30 | c.-33 others(41): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 3307 | chr16 | TogoVar | |||||||
CPLANE1_chr5_37101235_37254376 | 37245297 | CTATATAT others(23): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0168 |
2 | 9 | 0.2222 | -30 | c.337 others(45): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 4/52 | chr5 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826312 | CCGGGGCG others(23): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp1 NA19058.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0007g0035 |
3 | 413 | 0.0073 | -30 | c.-37 others(39): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 184 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826345 | GGGGCGGG others(23): Show |
G | upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0380 | 1 | 410 | 0.0024 | -30 | c.-40 others(39): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 217 | chr4 | TogoVar | |||||||
CPLX2_chr5_175866578_175889021 | 175871410 | GGAGAGAG others(23): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0022 | 1 | 299 | 0.0033 | -30 | c.-38 others(39): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 167 | chr5 | TogoVar | |||||||
CPNE1_chr20_35621044_35669900 | 35653332 | CTGGGCAG others(23): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 | 1 | 270 | 0.0037 | -30 | c.-1+ others(47): Show |
CPNE1 | ENSG00000214078.13 | transcript | ENST00000397443.7 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131580388 | CTATACAT others(23): Show |
C | intron_variant | MODIFIER | HG02647.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0054 a0001c0001t0013g0040 |
2 | 24 | 0.0833 | -30 | c.867 others(47): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96880518 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02615.hp2 HG03927.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0110 a0001c0001t0002g0044 a0001c0002t0001g0070 |
3 | 10 | 0.3000 | -30 | c.849 others(45): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPSF6_chr12_69234569_69279358 | 69236234 | ATAGCATA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01192.hp1 HG01934.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(11): Show | a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0030 others(26): Show |
45 | 216 | 0.2083 | -30 | c.-34 others(41): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3334 | chr12 | TogoVar | |||||||
CPSF6_chr12_69234569_69279358 | 69236324 | GTAGCATA others(23): Show |
G | upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 242 | 0.0041 | -30 | c.-33 others(41): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3244 | chr12 | TogoVar | |||||||
CPT2_chr1_53191824_53219197 | 53210928 | GCTGACTG others(23): Show |
G | conservative_inframe_deletion | MODERATE | HG03139.hp2 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0077 | 1 | 384 | 0.0026 | -30 | c.125 others(39): Show |
p.Leu others(13): Show |
CPT2 | ENSG00000157184.7 | transcript | ENST00000371486.4 | protein_coding | 4/5 | 1375/2699 | 1255/1977 | 419/658 | chr1 | TogoVar | |||
CR1_chr1_207491157_207646765 | 207617590 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02027.hp2 HG02080.hp1 HG04199.hp2 others(1): Show |
a0002a0004 | a0002c0002a0004c0035 | a0002c0002t0001a0004c0035t0001 | a0002c0002t0001g0169 a0002c0002t0001g0173 a0002c0002t0001g0194 others(1): Show |
4 | 354 | 0.0113 | -30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617592 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG01358.hp2 others(9): Show |
a0002a0004a0007 | a0002c0002a0002c0033a0004c0009others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0022others(4): Show | a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0213 others(9): Show |
12 | 353 | 0.0340 | -30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617594 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG02004.hp2 HG02293.hp2 others(13): Show |
a0002a0004a0007others(1): Show | a0002c0002a0004c0004a0004c0009others(2): Show | a0002c0002t0001a0002c0002t0002a0004c0004t0014others(3): Show | a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0185 others(12): Show |
16 | 345 | 0.0464 | -30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |