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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A5_chrX_108434838_108702545 | 108526660 | CTTCTTTC others(16): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0201 a0001c0001t0001g0216 |
3 | 210 | 0.0143 | -23 | c.82- others(40): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134684916 | TCCATCCA others(16): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02451.hp1 others(7): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0009a0001c0003t0003a0001c0003t0010others(7): Show | a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 others(7): Show |
10 | 270 | 0.0370 | -23 | c.110 others(40): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9964854 | TAAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0305 | 1 | 13 | 0.0769 | -23 | c.478 others(42): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 64/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9983521 | AAAAGAAA others(16): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0030 | a0030c0047 | a0030c0047t0001 | a0030c0047t0001g0318 a0030c0047t0001g0319 |
2 | 406 | 0.0049 | -23 | c.240 others(42): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45988211 | GGGGGTCC others(16): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0005 | a0005c0023 | a0005c0023t0001 | a0005c0023t0001g0060 | 1 | 116 | 0.0086 | -23 | c.804 others(38): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46122713 | TCCCTTTT others(16): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 370 | 0.0027 | -23 | c.160 others(40): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46124017 | ATGAGTGG others(16): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(90): Show |
a0001a0003a0008 | a0001c0002a0001c0013a0001c0014others(9): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0010others(14): Show | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 others(74): Show |
93 | 370 | 0.2514 | -23 | c.167 others(40): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46122713 | TCCCTTTT others(16): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 362 | 0.0028 | -23 | c.160 others(40): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46124017 | ATGAGTGG others(16): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0023a0001c0024others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(18): Show | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(75): Show |
91 | 362 | 0.2514 | -23 | c.167 others(40): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237343514 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA18954.hp1 NA19058.hp1 |
a0002 | a0002c0001a0002c0106 | a0002c0001t0001a0002c0106t0001 | a0002c0001t0001g0301 a0002c0106t0001g0226 |
2 | 42 | 0.0476 | -23 | c.766 others(40): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | |||||||
COL6A5_chr3_130340672_130489846 | 130362308 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01256.hp1 HG02080.hp1 others(5): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0014a0001c0082others(4): Show | a0001c0001t0002a0001c0014t0002a0001c0082t0002others(4): Show | a0001c0001t0002g0220 a0001c0001t0002g0249 a0001c0014t0002g0250 others(5): Show |
8 | 272 | 0.0294 | -23 | c.-28 others(42): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130362310 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00642.hp1 others(50): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0014a0001c0025others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0002others(15): Show | a0001c0001t0001g0184 a0001c0001t0002g0215 a0001c0001t0002g0216 others(48): Show |
53 | 274 | 0.1934 | -23 | c.-28 others(42): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590289 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp1 |
a0011 | a0011c0008 | a0011c0008t0001 | a0011c0008t0001g0124 a0011c0008t0001g0125 |
2 | 261 | 0.0077 | -23 | c.421 others(40): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590293 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | NA18945.hp2 NA18968.hp2 NA19058.hp2 others(1): Show |
a0003a0013 | a0003c0004a0013c0012 | a0003c0004t0001a0003c0004t0002a0013c0012t0006 | a0003c0004t0001g0206 a0003c0004t0002g0038 a0003c0004t0002g0039 others(1): Show |
4 | 233 | 0.0172 | -23 | c.421 others(40): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590295 | ATATATTT others(16): Show |
A | intron_variant | MODIFIER | HG02083.hp1 | a0013 | a0013c0012 | a0013c0012t0006 | a0013c0012t0006g0086 | 1 | 215 | 0.0047 | -23 | c.421 others(40): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321124 | TATATATA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG03130.hp2 NA20129.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0023 a0002c0001t0001g0143 |
2 | 285 | 0.0070 | -23 | c.-39 others(34): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3839 | chr1 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069620 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02165.hp2 HG02622.hp1 HG02717.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0007 others(5): Show |
12 | 385 | 0.0312 | -23 | c.148 others(40): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069622 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01243.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0040 a0001c0001t0003g0003 a0001c0001t0003g0007 others(21): Show |
28 | 386 | 0.0725 | -23 | c.148 others(40): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069624 | AAAAAAAT others(16): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021 | a0001c0001t0008g0328 a0001c0001t0021g0330 |
2 | 384 | 0.0052 | -23 | c.148 others(40): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3616753 | AGAGAGGG others(16): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0204 a0002c0002t0001g0219 a0002c0002t0001g0314 |
3 | 374 | 0.0080 | -23 | c.202 others(40): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3616794 | CGTGGGGA others(16): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0315 a0001c0001t0001g0319 a0002c0002t0001g0189 |
3 | 376 | 0.0080 | -23 | c.202 others(40): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 435414 | TATAAAAC others(16): Show |
T | intron_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0001 | a0002c0001t0051 | a0002c0001t0051g0055 | 1 | 364 | 0.0027 | -23 | c.58+ others(40): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COPS5_chr8_67038079_67067133 | 67056649 | AAAAATAT others(16): Show |
A | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 279 | 0.0036 | -23 | c.574 others(36): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
COPS5_chr8_67038079_67067133 | 67056651 | AAATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01175.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(4): Show |
11 | 270 | 0.0407 | -23 | c.574 others(36): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
COPS5_chr8_67038079_67067133 | 67056653 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(10): Show |
16 | 234 | 0.0684 | -23 | c.574 others(36): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
COQ10B_chr2_197448552_197480310 | 197463953 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0256 | 1 | 371 | 0.0027 | -23 | c.447 others(40): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ3_chr6_99364401_99399195 | 99378137 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0294 | 1 | 378 | 0.0026 | -23 | c.387 others(38): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | |||||||
CORO1C_chr12_108640109_108736518 | 108685295 | TACTAGAG others(16): Show |
T | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 324 | 0.0031 | -23 | c.196 others(40): Show |
CORO1C | ENSG00000110880.11 | transcript | ENST00000261401.8 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98192811 | GGGGCGCG others(16): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 340 | 0.0029 | -23 | c.-27 others(32): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 175 | chr9 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68650355 | CTAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG02135.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0167 a0001c0001t0003g0082 a0001c0001t0003g0116 others(5): Show |
8 | 178 | 0.0449 | -23 | c.216 others(40): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
CORO6_chr17_29609762_29627912 | 29613035 | AGAACCCG others(16): Show |
A | downstream_gene_variant | MODIFIER | NA18939.hp1 NA19058.hp1 NA19065.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 5 | 364 | 0.0137 | -23 | c.*26 others(34): Show |
CORO6 | ENSG00000167549.19 | transcript | ENST00000388767.8 | protein_coding | 1726 | chr17 | TogoVar | |||||||
COX14_chr12_50107236_50125453 | 50118269 | ACTCCTGA others(16): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(214): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(98): Show |
217 | 416 | 0.5216 | -23 | c.-8- others(38): Show |
COX14 | ENSG00000178449.9 | transcript | ENST00000550487.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COX19_chr7_959852_980549 | 975620 | GCCCCTTG others(16): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0041 | 2 | 428 | 0.0047 | -23 | c.-13 others(32): Show |
COX19 | ENSG00000240230.6 | transcript | ENST00000344111.4 | protein_coding | 72 | chr7 | TogoVar | |||||||
COX6C_chr8_99872865_99898707 | 99875818 | CTGCCACC others(16): Show |
C | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01192.hp2 HG01358.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0023 |
4 | 354 | 0.0113 | -23 | c.*24 others(34): Show |
COX6C | ENSG00000164919.11 | transcript | ENST00000520468.7 | protein_coding | 2046 | chr8 | TogoVar | |||||||
COX8A_chr11_63969620_63981543 | 63975610 | CTGTCACC others(16): Show |
C | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 318 | 0.0031 | -23 | c.115 others(38): Show |
COX8A | ENSG00000176340.4 | transcript | ENST00000314133.4 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82579918 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0010a0001c0001t0017a0001c0001t0020others(4): Show | a0001c0001t0010g0114 a0001c0001t0010g0215 a0001c0001t0010g0216 others(15): Show |
19 | 31 | 0.6129 | -23 | c.272 others(40): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92258628 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00642.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0108 a0001c0001t0002g0006 a0001c0001t0002g0125 others(34): Show |
37 | 240 | 0.1542 | -23 | c.-11 others(42): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826301 | GGGGGGTG others(16): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp1 HG04204.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0027 | a0001c0001t0005g0085 a0001c0001t0005g0093 a0001c0001t0027g0042 |
3 | 399 | 0.0075 | -23 | c.-35 others(32): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 173 | chr4 | TogoVar | |||||||
CPN2_chr3_194334768_194356328 | 194348188 | GCCCAGTT others(16): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp1 HG03486.hp2 others(3): Show |
a0001a0004a0005 | a0001c0004a0004c0018a0005c0008 | a0001c0004t0004a0004c0018t0001a0005c0008t0008 | a0001c0004t0004g0084 a0004c0018t0001g0085 a0005c0008t0008g0021 others(1): Show |
6 | 438 | 0.0137 | -23 | c.-4+ others(38): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131547455 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 26 | 0.0385 | -23 | c.130 others(42): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 14/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131958970 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 67 | 0.0149 | -23 | c.-1- others(40): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131979779 | GTTTTATA others(16): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0028 others(12): Show |
15 | 92 | 0.1630 | -23 | c.-2+ others(40): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38660026 | ATGGCCAT others(16): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0138 | 1 | 340 | 0.0029 | -23 | c.150 others(42): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 19/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38862282 | TATTTCTC others(16): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01071.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0021 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 others(33): Show |
36 | 340 | 0.1059 | -23 | c.186 others(42): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38902370 | AAGAAAGA others(16): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02818.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0002c0005t0001g0012 |
3 | 323 | 0.0093 | -23 | c.98+ others(38): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPNE9_chr3_9698833_9734908 | 9703765 | GGGGCGGG others(16): Show |
G | upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | -23 | c.-23 others(32): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 67 | chr3 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96771081 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0045 | 1 | 124 | 0.0081 | -23 | c.-34 others(42): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96777742 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0008 | 1 | 122 | 0.0082 | -23 | c.-34 others(40): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPS1_chr2_210551599_210684107 | 210571856 | TGTGTGTG others(16): Show |
T | intron_variant | MODIFIER | NA19090.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0044 | 1 | 338 | 0.0030 | -23 | c.127 others(40): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | TogoVar | |||||||
CPSF3_chr2_9418654_9478101 | 9425746 | GTTTACAT others(16): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(104): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(98): Show |
107 | 228 | 0.4693 | -23 | c.50+ others(38): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |