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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLSTN2_chr3_139930185_140582397 | 140135097 | CACACACA others(35): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 HG01884.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0022others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0005g0089 others(13): Show |
16 | 110 | 0.1455 | -42 | c.110 others(61): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140550824 | ACCTTTTT others(35): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp2 HG02723.hp1 others(1): Show |
a0001a0002 | a0001c0008a0002c0021 | a0001c0008t0009a0001c0008t0016a0002c0021t0009 | a0001c0008t0009g0042 a0001c0008t0009g0100 a0001c0008t0016g0051 others(1): Show |
4 | 110 | 0.0364 | -42 | c.167 others(61): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965196 | AAAAAACA others(35): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0167 | a0002c0002t0167g0291 | 1 | 408 | 0.0025 | -42 | c.*10 others(55): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1251 | chr16 | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81704356 | CCCCCCTT others(35): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 268 | 0.0037 | -42 | c.209 others(59): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99983446 | GTATATAT others(35): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0185 others(52): Show |
55 | 232 | 0.2371 | -42 | c.65- others(61): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM1_chr16_66561439_66584135 | 66579699 | GTAAGGAG others(35): Show |
G | downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | -42 | c.*69 others(51): Show |
CMTM1 | ENSG00000089505.18 | transcript | ENST00000379500.7 | protein_coding | 565 | chr16 | TogoVar | |||||||
CMTM2_chr16_66574463_66593275 | 66579699 | GTAAGGAG others(35): Show |
G | conservative_inframe_deletion | MODERATE | HG00673.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0002 | 1 | 410 | 0.0024 | -42 | c.130 others(49): Show |
p.Asp others(11): Show |
CMTM2 | ENSG00000140932.10 | transcript | ENST00000268595.3 | protein_coding | 1/4 | 275/1048 | 130/747 | 44/248 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
CNBP_chr3_129162827_129188896 | 129187161 | AAAAATTA others(35): Show |
A | upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0267 | 1 | 430 | 0.0023 | -42 | c.-34 others(53): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3266 | chr3 | TogoVar | |||||||
CNIH3_chr1_224611317_224745554 | 224700026 | GTTGTCCA others(35): Show |
G | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0295 | 1 | 358 | 0.0028 | -42 | c.198 others(61): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2287669 | AGAAGAAG others(35): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0084 | 1 | 116 | 0.0086 | -42 | c.-14 others(63): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2287693 | GGAAGAAG others(35): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG01256.hp2 HG01884.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0009a0001c0002t0002others(1): Show | a0001c0001t0002g0055 a0001c0001t0009g0052 a0001c0002t0002g0035 others(1): Show |
4 | 116 | 0.0345 | -42 | c.-14 others(63): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99598287 | TTCTTTTC others(35): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015 | a0001c0001t0006g0032 a0001c0001t0015g0064 |
2 | 66 | 0.0303 | -42 | c.55+ others(59): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76397938 | TTATATAC others(35): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03130.hp2 HG03453.hp2 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0010a0002c0002t0002a0003c0003t0007others(1): Show | a0001c0001t0010g0250 a0002c0002t0002g0206 a0003c0003t0007g0259 others(1): Show |
4 | 274 | 0.0146 | -42 | c.391 others(61): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COG1_chr17_73188055_73213507 | 73192838 | GCGCCCGC others(35): Show |
G | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01192.hp2 others(2): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0001a0004c0007t0001 | a0002c0001t0001g0121 a0002c0001t0001g0122 a0004c0007t0001g0019 |
5 | 428 | 0.0117 | -42 | c.-23 others(51): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 216 | chr17 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73192842 | CCGCCCCC others(35): Show |
C | upstream_gene_variant | MODIFIER | HG02015.hp2 HG02129.hp1 HG02132.hp1 others(7): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 a0002c0001t0001g0006 a0002c0001t0001g0014 others(6): Show |
10 | 428 | 0.0234 | -42 | c.-22 others(51): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 212 | chr17 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73192846 | CCCCGCCC others(35): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0105 | 1 | 428 | 0.0023 | -42 | c.-22 others(51): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 208 | chr17 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103043174 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0024a0003c0023others(3): Show | a0001c0005t0004a0001c0005t0005a0001c0005t0012others(5): Show | a0001c0005t0004g0015 a0001c0005t0005g0061 a0001c0005t0005g0070 others(13): Show |
16 | 184 | 0.0870 | -42 | c.652 others(61): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL15A1_chr9_98938907_99075787 | 99074633 | ATATTTCT others(35): Show |
A | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0220 | 1 | 310 | 0.0032 | -42 | c.*47 others(53): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 3847 | chr9 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45437865 | CTCAGACA others(35): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00733.hp2 others(25): Show |
a0001a0003a0005others(1): Show | a0001c0003a0001c0007a0001c0011others(11): Show | a0001c0003t0001a0001c0007t0002a0001c0011t0001others(12): Show | a0001c0003t0001g0005 a0001c0003t0001g0048 a0001c0003t0001g0193 others(25): Show |
28 | 292 | 0.0959 | -42 | c.107 others(61): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45443050 | GTGTGGGC others(35): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
a0011a0018a0020 | a0011c0040a0011c0104a0018c0095others(1): Show | a0011c0040t0001a0011c0104t0002a0018c0095t0001others(1): Show | a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 others(2): Show |
5 | 292 | 0.0171 | -42 | c.107 others(61): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45501825 | CTCCACAG others(35): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0084 | a0002c0084t0002 | a0002c0084t0002g0212 | 1 | 292 | 0.0034 | -42 | c.268 others(61): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45507450 | GTGGGCTG others(35): Show |
G | intron_variant | MODIFIER | HG00423.hp1 NA18945.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0125 a0001c0004t0001g0271 |
2 | 292 | 0.0069 | -42 | c.321 others(58): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 37/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45507456 | TGGGAGGG others(35): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(149): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0003others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(60): Show | a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 others(149): Show |
152 | 292 | 0.5206 | -42 | c.321 others(57): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 37/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178358270 | ATATGTGT others(35): Show |
A | intron_variant | MODIFIER | HG02523.hp2 NA18959.hp1 NA19005.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0002g0079 a0002c0002t0001g0047 a0002c0002t0002g0149 others(1): Show |
4 | 236 | 0.0170 | -42 | c.362 others(61): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101470990 | CTCAGGAA others(35): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0105 | 1 | 174 | 0.0058 | -42 | c.385 others(61): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489754 | CTCTCTTT others(35): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0016 | 1 | 174 | 0.0058 | -42 | c.385 others(61): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7453796 | GGAATGAA others(35): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(17): Show |
a0004a0007a0010others(5): Show | a0004c0006a0004c0039a0007c0008others(8): Show | a0004c0006t0002a0004c0039t0003a0007c0008t0003others(9): Show | a0004c0006t0002g0005 a0004c0006t0002g0006 a0004c0006t0002g0007 others(17): Show |
20 | 196 | 0.1020 | -42 | c.137 others(59): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 16/34 | chr7 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110253285 | ATTACATA others(35): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(44): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(25): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0072 others(43): Show |
47 | 344 | 0.1366 | -42 | c.85- others(59): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110456830 | AACCCCAG others(35): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0294 | 1 | 372 | 0.0027 | -42 | c.134 others(59): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110456858 | CTGCGTCT others(35): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0018 | a0018c0049 | a0018c0049t0031 | a0018c0049t0031g0045 | 1 | 372 | 0.0027 | -42 | c.134 others(59): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202846 | CATATGTG others(35): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02922.hp2 NA20129.hp1 |
a0002 | a0002c0007a0002c0026 | a0002c0007t0003a0002c0026t0014 | a0002c0007t0003g0092 a0002c0026t0014g0071 a0002c0026t0014g0146 |
3 | 344 | 0.0087 | -42 | c.88- others(59): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041806 | AAGAAAGA others(35): Show |
A | intron_variant | MODIFIER | NA18945.hp2 NA21309.hp1 |
a0001a0020 | a0001c0001a0020c0054 | a0001c0001t0001a0020c0054t0010 | a0001c0001t0001g0097 a0020c0054t0010g0020 |
2 | 284 | 0.0070 | -42 | c.350 others(59): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134714701 | GTGGAGGT others(35): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 272 | 0.0037 | -42 | c.655 others(61): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134829255 | GGAGGGCT others(35): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0009a0001c0005t0022a0001c0007t0017others(1): Show | a0001c0001t0009g0233 a0001c0005t0022g0085 a0001c0007t0017g0241 others(1): Show |
4 | 272 | 0.0147 | -42 | c.506 others(59): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134829369 | GGCCTCCG others(35): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01175.hp1 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0140 a0001c0002t0013g0168 |
2 | 272 | 0.0074 | -42 | c.506 others(59): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237343514 | CAAAAAAA others(35): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02896.hp2 |
a0005 | a0005c0008a0005c0111 | a0005c0008t0005a0005c0111t0003 | a0005c0008t0005g0098 a0005c0111t0003g0118 |
2 | 322 | 0.0062 | -42 | c.766 others(59): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | |||||||
COQ10B_chr2_197448552_197480310 | 197473475 | CACGTATA others(35): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 390 | 0.0026 | -42 | c.550 others(57): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226944722 | AGAGAGAG others(35): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG02145.hp1 HG02965.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0002t0003a0002c0004t0008 | a0001c0001t0002g0308 a0001c0002t0003g0252 a0002c0004t0008g0358 others(2): Show |
5 | 412 | 0.0121 | -42 | c.-10 others(59): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COX4I1_chr16_85794695_85812068 | 85800037 | AGGCTGCG others(35): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0036 others(1): Show |
5 | 432 | 0.0116 | -42 | c.-2+ others(55): Show |
COX4I1 | ENSG00000131143.10 | transcript | ENST00000253452.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67607154 | CTCTTCTT others(35): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 144 | 0.0069 | -42 | c.192 others(61): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPED1_chr7_120983711_121302442 | 121047646 | TTTCTTCT others(35): Show |
T | intron_variant | MODIFIER | HG06807.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 |
2 | 140 | 0.0143 | -42 | c.540 others(57): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37245297 | CTATATAT others(35): Show |
C | intron_variant | MODIFIER | NA18939.hp2 NA18986.hp2 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0153 a0013c0017t0001g0154 |
2 | 268 | 0.0075 | -42 | c.337 others(57): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 4/52 | chr5 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826379 | GCGGGGGC others(35): Show |
G | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0035 | 1 | 416 | 0.0024 | -42 | c.-45 others(51): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 251 | chr4 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89570966 | GACGGGAG others(35): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0166 | 1 | 348 | 0.0029 | -42 | c.-49 others(53): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 4791 | chr16 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587958 | ACCCACAG others(35): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp1 HG01167.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0083 a0001c0001t0001g0085 others(12): Show |
15 | 348 | 0.0431 | -42 | c.928 others(57): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617594 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01928.hp2 HG01943.hp2 others(1): Show |
a0002a0017 | a0002c0002a0017c0022 | a0002c0002t0001a0017c0022t0001 | a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0221 others(1): Show |
4 | 360 | 0.0111 | -42 | c.689 others(59): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28642951 | TACACACA others(35): Show |
T | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 198 | 0.0051 | -42 | c.464 others(61): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1211871 | TGGTAGAT others(35): Show |
T | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 | 1 | 167 | 0.0060 | -42 | c.79+ others(55): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240916465 | CCCCCCGT others(35): Show |
C | intron_variant | MODIFIER | NA18998.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0208 | 1 | 350 | 0.0029 | -42 | c.79- others(57): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240919020 | AGTCCTGG others(35): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(47): Show | a0001c0001a0001c0020a0001c0022others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0095 others(230): Show |
235 | 350 | 0.6714 | -42 | c.229 others(57): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |