| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CDH4_chr20_61247261_61945617 | 61784311 | AGAGAAAT others(56): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0083 | 1 | 106 | 0.0094 | -63 | c.576 others(82): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61784550 | TTGTGCCC others(56): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 106 | 0.0094 | -63 | c.576 others(82): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61784635 | GCCCAGTT others(56): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG03927.hp1 NA19240.hp2 |
a0002a0004 | a0002c0002a0002c0005a0004c0019 | a0002c0002t0012a0002c0005t0002a0004c0019t0001 | a0002c0002t0012g0104a0002c0005t0002g0061a0004c0019t0001g0015 | 3 | 106 | 0.0283 | -63 | c.576 others(82): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDK14_chr7_90591321_91215590 | 90989414 | ACTCTGTA others(56): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 168 | 0.0060 | -63 | c.104 others(82): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CEACAM20_chr19_44501159_44534675 | 44532525 | GGAAAGAA others(56): Show |
G | upstream_gene_variant | MODIFIER | NA18942.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0305 | 1 | 438 | 0.0023 | -63 | c.-30 others(74): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2851 | chr19 | TogoVar | ||||||
| CECR2_chr22_17364460_17563151 | 17432004 | TGACATTT others(56): Show |
T | intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 324 | 0.0031 | -63 | c.127 others(82): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CENPM_chr22_41933737_41952152 | 41938619 | CCTCCCAA others(56): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 258 | 0.0039 | -63 | c.*37 others(72): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 117 | chr22 | TogoVar | ||||||
| CEP85_chr1_26229200_26283808 | 26239551 | CATGTTGG others(56): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02257.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0010others(1): Show | a0001c0001t0001a0004c0004t0003a0004c0004t0008others(2): Show | a0001c0001t0001g0284a0001c0001t0001g0285a0004c0004t0003g0292others(6): Show | 9 | 342 | 0.0263 | -63 | c.-22 others(78): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
| CERK_chr22_46679410_46743252 | 46687275 | CTGGACAG others(56): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(102): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(38): Show | a0001c0001t0004g0017a0001c0001t0004g0018a0001c0001t0004g0019others(97): Show | 105 | 340 | 0.3088 | -63 | c.154 others(79): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 12/12 | chr22 | TogoVar | ||||||
| CERS3_chr15_100395395_100533950 | 100511973 | TTCTGTTA others(56): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG03540.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0037 | a0001c0003t0012g0351a0001c0003t0012g0352a0001c0003t0037g0026 | 3 | 362 | 0.0083 | -63 | c.-2+ others(78): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
| CFAP97D2_chr13_114174257_114228085 | 114213889 | AAGCTCCA others(56): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0321 | 1 | 400 | 0.0025 | -63 | c.291 others(80): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
| CFAP99_chr4_2413955_2468002 | 2430207 | CCGGACAG others(56): Show |
C | intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0135 | 1 | 350 | 0.0029 | -63 | c.111 others(80): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CFAP99_chr4_2413955_2468002 | 2430216 | GGACTGCG others(56): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0021a0001c0003t0001g0127a0001c0006t0001g0128 | 4 | 350 | 0.0114 | -63 | c.111 others(80): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CFAP99_chr4_2413955_2468002 | 2430369 | CGCAATAC others(56): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136 | 1 | 350 | 0.0029 | -63 | c.111 others(80): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CHCHD6_chr3_126699240_126965420 | 126862736 | CCTCCACC others(56): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 216 | 0.0046 | -63 | c.495 others(82): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CHL1_chr3_191763_414417 | 289726 | TATCTTAT others(56): Show |
T | intron_variant | MODIFIER | HG03130.hp1 NA19240.hp2 |
a0007a0011 | a0007c0006a0011c0011 | a0007c0006t0023a0011c0011t0050 | a0007c0006t0023g0215a0011c0011t0050g0089 | 2 | 290 | 0.0069 | -63 | c.-94 others(82): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CHMP1A_chr16_89639435_89662708 | 89655373 | CCCTCACC others(56): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02129.hp2 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0118 | 3 | 392 | 0.0077 | -63 | c.8-1 others(76): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
| CHSY1_chr15_101170727_101257048 | 101202138 | AAGGATGG others(56): Show |
A | intron_variant | MODIFIER | HG02071.hp1 HG02109.hp1 HG02132.hp2 others(11): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0007 | a0001c0001t0008a0001c0008t0010a0001c0008t0039others(3): Show | a0001c0001t0008g0003a0001c0008t0010g0034a0001c0008t0010g0035others(9): Show | 14 | 422 | 0.0332 | -63 | c.817 others(82): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
| CHSY1_chr15_101170727_101257048 | 101202400 | GGCATTTC others(56): Show |
G | intron_variant | MODIFIER | HG04115.hp1 NA19030.hp1 |
a0001a0005 | a0001c0003a0005c0010 | a0001c0003t0004a0005c0010t0001 | a0001c0003t0004g0089a0005c0010t0001g0094 | 2 | 422 | 0.0047 | -63 | c.817 others(82): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
| CHSY1_chr15_101170727_101257048 | 101202477 | AGGGGCAG others(56): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0004 | a0004c0007 | a0004c0007t0008 | a0004c0007t0008g0074 | 1 | 422 | 0.0024 | -63 | c.817 others(82): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
| CHSY1_chr15_101170727_101257048 | 101202516 | AAGGATGG others(56): Show |
A | intron_variant | MODIFIER | HG02071.hp1 HG02132.hp2 HG02165.hp1 others(7): Show |
a0001 | a0001c0008 | a0001c0008t0010a0001c0008t0039a0001c0008t0040others(1): Show | a0001c0008t0010g0034a0001c0008t0010g0035a0001c0008t0010g0037others(7): Show | 10 | 422 | 0.0237 | -63 | c.817 others(82): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
| CHSY1_chr15_101170727_101257048 | 101202540 | GGGGGCAG others(56): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0028 | a0001c0028t0061 | a0001c0028t0061g0364 | 1 | 422 | 0.0024 | -63 | c.817 others(82): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
| CHTF18_chr16_783620_803074 | 795504 | ACTGCCCG others(56): Show |
A | intron_variant | MODIFIER | NA19012.hp1 | a0019 | a0019c0019 | a0019c0019t0001 | a0019c0019t0001g0093 | 1 | 428 | 0.0023 | -63 | c.217 others(80): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CIB3_chr19_16156368_16178525 | 16167708 | TGTAATCC others(56): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0100 | 1 | 378 | 0.0027 | -63 | c.346 others(78): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
| CLMN_chr14_95176940_95324908 | 95245191 | TATAATAT others(56): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp2 NA20129.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0020 | a0001c0001t0001g0171a0003c0007t0020g0002 | 3 | 276 | 0.0109 | -63 | c.83- others(80): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
| CLN8_chr8_1758789_1791570 | 1763581 | GCCGCGCC others(56): Show |
G | upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 413 | 0.0024 | -63 | c.-42 others(72): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 207 | chr8 | TogoVar | ||||||
| CMSS1_chr3_99812862_100186732 | 100037130 | ATAAAATG others(56): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0055a0001c0001t0010g0056 | 2 | 232 | 0.0086 | -63 | c.65- others(82): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
| CNTN5_chr11_99015949_100363885 | 99990380 | TATTGGCT others(56): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG02976.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0007a0004c0004t0020 | a0003c0003t0007g0034a0004c0004t0020g0024 | 2 | 66 | 0.0303 | -63 | c.878 others(82): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 147084328 | CTATATAT others(56): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0039 | 1 | 40 | 0.0250 | -63 | c.551 others(82): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178547563 | CCCCACAC others(56): Show |
C | intron_variant | MODIFIER | HG02572.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0119a0001c0001t0005g0144 | 2 | 236 | 0.0085 | -63 | c.361 others(82): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| COL26A1_chr7_101357875_101564024 | 101489711 | TTCATTCT others(56): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03492.hp2 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0009a0002c0004t0001 | a0001c0001t0005g0094a0001c0001t0009g0159a0002c0004t0001g0138 | 3 | 174 | 0.0172 | -63 | c.385 others(82): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| COL26A1_chr7_101357875_101564024 | 101489713 | CATTCTTT others(56): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0010 | a0003c0010t0005 | a0003c0010t0005g0165 | 1 | 174 | 0.0058 | -63 | c.385 others(82): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| COL4A2_chr13_110302284_110518209 | 110355533 | TAGCTCAC others(56): Show |
T | intron_variant | MODIFIER | NA19086.hp1 | a0006 | a0006c0027 | a0006c0027t0012 | a0006c0027t0012g0281 | 1 | 372 | 0.0027 | -63 | c.100 others(80): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL5A1_chr9_134636803_134849843 | 134710564 | GCCCCATT others(56): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 272 | 0.0037 | -63 | c.654 others(80): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COL5A1_chr9_134636803_134849843 | 134760444 | TGCATACA others(56): Show |
T | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0080 | 1 | 272 | 0.0037 | -63 | c.193 others(82): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45997059 | ACCTGAGG others(56): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0013 | a0013c0020 | a0013c0020t0002 | a0013c0020t0002g0002 | 1 | 128 | 0.0078 | -63 | c.139 others(80): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45997112 | TTCCGTGG others(56): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0007 | a0007c0036 | a0007c0036t0005 | a0007c0036t0005g0083 | 1 | 128 | 0.0078 | -63 | c.139 others(80): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45997137 | CGGGCGCC others(56): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01074.hp2 others(7): Show |
a0002a0020 | a0002c0002a0002c0008a0020c0013 | a0002c0002t0004a0002c0002t0008a0002c0008t0004others(1): Show | a0002c0002t0004g0021a0002c0002t0004g0023a0002c0002t0004g0025others(7): Show | 10 | 128 | 0.0781 | -63 | c.139 others(80): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CPNE7_chr16_89570758_89602246 | 89587718 | ACCCCCGT others(56): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG03041.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0002t0001g0287a0001c0002t0004g0228a0001c0002t0005g0019others(1): Show | 4 | 348 | 0.0115 | -63 | c.927 others(78): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CPXM2_chr10_123740639_123896807 | 123773200 | ATTGTGGT others(56): Show |
A | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0030 | a0001c0030t0012 | a0001c0030t0012g0242 | 1 | 288 | 0.0035 | -63 | c.979 others(80): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 7/13 | chr10 | TogoVar | ||||||
| CPXM2_chr10_123740639_123896807 | 123773213 | GCTCCCTC others(56): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG01243.hp1 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0055a0001c0001t0002g0024a0001c0001t0002g0031others(10): Show | 13 | 288 | 0.0451 | -63 | c.979 others(80): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 7/13 | chr10 | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1201103 | GTAAGTAT others(56): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0123 | 1 | 167 | 0.0060 | -63 | c.483 others(80): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
| CSGALNACT1_chr8_19399161_19762277 | 19666983 | GAAAGAAA others(56): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0005 | a0003c0005t0027 | a0003c0005t0027g0229 | 1 | 238 | 0.0042 | -63 | c.-39 others(84): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
| CSGALNACT1_chr8_19399161_19762277 | 19667004 | AAAGAAAG others(56): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0014 | a0014c0013 | a0014c0013t0004 | a0014c0013t0004g0220 | 1 | 238 | 0.0042 | -63 | c.-39 others(84): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3795276 | CAGATATA others(56): Show |
C | intron_variant | MODIFIER | HG06807.hp1 NA19090.hp1 |
a0001a0002 | a0001c0102a0002c0035 | a0001c0102t0005a0002c0035t0047 | a0001c0102t0005g0034a0002c0035t0047g0076 | 2 | 126 | 0.0159 | -63 | c.819 others(82): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4055502 | TAAGAGTC others(56): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0090a0002c0035others(5): Show | a0001c0004t0063a0001c0090t0001a0002c0035t0047others(5): Show | a0001c0004t0063g0095a0001c0090t0001g0027a0002c0035t0047g0076others(5): Show | 8 | 126 | 0.0635 | -63 | c.416 others(82): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4920869 | AAGAAAAG others(56): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0043 | a0001c0043t0031 | a0001c0043t0031g0044 | 1 | 126 | 0.0079 | -63 | c.85+ others(80): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4920887 | AAAAGAAA others(56): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03834.hp2 NA18971.hp1 |
a0001a0002a0037 | a0001c0040a0002c0077a0037c0101 | a0001c0040t0019a0002c0077t0001a0037c0101t0008 | a0001c0040t0019g0123a0002c0077t0001g0016a0037c0101t0008g0023 | 3 | 126 | 0.0238 | -63 | c.85+ others(80): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSNK1D_chr17_82237667_82278700 | 82254745 | GGAGCCTC others(56): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0210a0001c0001t0011g0211 | 2 | 320 | 0.0063 | -63 | c.336 others(78): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
| CSNK1D_chr17_82237667_82278700 | 82260288 | CGACTGAT others(56): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01433.hp1 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0181a0001c0001t0001g0192a0001c0001t0001g0195others(1): Show | 4 | 320 | 0.0125 | -63 | c.188 others(80): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 2/8 | chr17 | TogoVar |