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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPNE4_chr3_131528569_132040014 | 131951544 | AGTCTCCC others(18): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0058 | 2 | 94 | 0.0213 | -25 | c.-1- others(42): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131951568 | CGGTCTCC others(18): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0013a0001c0002t0001 | a0001c0001t0002g0069a0001c0001t0002g0070a0001c0001t0002g0072others(6): Show | 9 | 94 | 0.0957 | -25 | c.-1- others(42): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89579671 | ATCACATG others(18): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(5): Show | a0001c0001t0001g0175a0001c0002t0001g0331a0001c0008t0001g0005others(5): Show | 8 | 348 | 0.0230 | -25 | c.357 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89588092 | CCCCCGTG others(18): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG03942.hp1 NA19005.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0002c0003t0003 | a0001c0002t0004g0110a0001c0002t0004g0131a0001c0002t0004g0266others(1): Show | 4 | 348 | 0.0115 | -25 | c.928 others(40): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE9_chr3_9698833_9734908 | 9725632 | ATATACAT others(18): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 440 | 0.0023 | -25 | c.124 others(42): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 17/20 | chr3 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 97122917 | TAAAATAA others(18): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02040.hp2 HG02109.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0028a0001c0001t0001g0031others(22): Show | 25 | 126 | 0.1984 | -25 | c.125 others(46): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPS1_chr2_210551599_210684107 | 210571854 | TTTGTGTG others(18): Show |
T | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030 | 1 | 340 | 0.0029 | -25 | c.127 others(42): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPS1_chr2_210551599_210684107 | 210681332 | GTCTATGT others(18): Show |
G | downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0024 | 1 | 340 | 0.0029 | -25 | c.*33 others(36): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2226 | chr2 | TogoVar | ||||||
CPVL_chr7_28990235_29151537 | 29051922 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(49): Show |
a0003a0008 | a0003c0003a0008c0013 | a0003c0003t0001a0003c0003t0003a0003c0003t0005others(1): Show | a0003c0003t0001g0005a0003c0003t0001g0011a0003c0003t0001g0013others(49): Show | 52 | 282 | 0.1844 | -25 | c.113 others(46): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 11/12 | chr7 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56183235 | AAAAATAA others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02109.hp2 HG02622.hp1 others(1): Show |
a0002a0009 | a0002c0003a0002c0006a0002c0008others(1): Show | a0002c0003t0001a0002c0006t0001a0002c0008t0002others(1): Show | a0002c0003t0001g0084a0002c0006t0001g0122a0002c0008t0002g0046others(1): Show | 4 | 250 | 0.0160 | -25 | c.-18 others(44): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CRB3_chr19_6459271_6472221 | 6461233 | GTTTTTTT others(18): Show |
G | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01884.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0002t0001g0011a0001c0002t0002g0003 | 11 | 390 | 0.0282 | -25 | c.-32 others(36): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3849423 | GTGTGTGT others(18): Show |
G | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0067 | 1 | 286 | 0.0035 | -25 | c.798 others(40): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3849425 | GTGTGTGT others(18): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0031 | 1 | 286 | 0.0035 | -25 | c.798 others(40): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3849435 | GTGTGTGT others(18): Show |
G | intron_variant | MODIFIER | NA18942.hp1 NA19082.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0099a0001c0001t0001g0171 | 3 | 286 | 0.0105 | -25 | c.798 others(40): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREM_chr10_35121846_35217953 | 35187130 | TAATATAT others(18): Show |
T | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 294 | 0.0034 | -25 | c.410 others(42): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CRIP3_chr6_43300472_43313826 | 43313748 | AGTAGTCC others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(146): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0002c0002t0001g0001others(6): Show | 149 | 376 | 0.3963 | -25 | c.-49 others(36): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 4923 | chr6 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240907718 | GGGGTGAG others(18): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00642.hp2 others(15): Show |
a0001a0002a0008others(4): Show | a0001c0001a0001c0024a0002c0002others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0024t0002others(8): Show | a0001c0001t0002g0274a0001c0001t0002g0312a0001c0001t0002g0315others(15): Show | 18 | 350 | 0.0514 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240907825 | CCTCTACC others(18): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(62): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0002a0003c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0058a0001c0001t0001g0084a0001c0001t0002g0274others(62): Show | 65 | 350 | 0.1857 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240908218 | GGGGTGAC others(18): Show |
G | intron_variant | MODIFIER | HG03017.hp2 HG03491.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0340a0002c0002t0002g0235 | 2 | 350 | 0.0057 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240908300 | CCTCTACC others(18): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00735.hp2 others(5): Show |
a0001a0002a0018others(1): Show | a0001c0001a0002c0002a0002c0012others(2): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(3): Show | a0001c0001t0002g0312a0001c0001t0004g0340a0002c0002t0002g0235others(5): Show | 8 | 350 | 0.0229 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240908500 | GCTCTACC others(18): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0018 | a0018c0017 | a0018c0017t0002 | a0018c0017t0002g0242 | 1 | 350 | 0.0029 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240908545 | GGTGAGCT others(18): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02922.hp1 |
a0018a0052 | a0018c0017a0052c0072 | a0018c0017t0002a0052c0072t0002 | a0018c0017t0002g0240a0018c0017t0002g0241a0052c0072t0002g0239 | 3 | 350 | 0.0086 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240908600 | GCTCTACC others(18): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(85): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0020a0001c0022others(24): Show | a0001c0001t0002a0001c0001t0004a0001c0020t0002others(25): Show | a0001c0001t0002g0236a0001c0001t0002g0273a0001c0001t0002g0277others(85): Show | 88 | 350 | 0.2514 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240908675 | GCTCTACC others(18): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG02683.hp2 |
a0002a0026 | a0002c0002a0026c0078 | a0002c0002t0002a0026c0078t0004 | a0002c0002t0002g0276a0026c0078t0004g0341 | 2 | 350 | 0.0057 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240908950 | GCTCTACC others(18): Show |
G | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312 | 1 | 350 | 0.0029 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240909000 | CCTCTACC others(18): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG02109.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0002 | a0001c0001t0002g0267a0004c0004t0002g0244 | 2 | 350 | 0.0057 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240909050 | GCTCTACC others(18): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0342 | 1 | 350 | 0.0029 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240909175 | CCTCTACC others(18): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG01978.hp2 HG02258.hp1 others(9): Show |
a0001a0006a0009others(3): Show | a0001c0001a0006c0007a0009c0010others(3): Show | a0001c0001t0001a0001c0001t0003a0006c0007t0001others(5): Show | a0001c0001t0001g0191a0001c0001t0003g0196a0006c0007t0001g0194others(9): Show | 12 | 350 | 0.0343 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240909300 | CCTCTACC others(18): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA19087.hp1 |
a0007a0014 | a0007c0006a0014c0014 | a0007c0006t0001a0014c0014t0001 | a0007c0006t0001g0085a0014c0014t0001g0174 | 2 | 350 | 0.0057 | -25 | c.78+ others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240984872 | CCACACAC others(18): Show |
C | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 350 | 0.0029 | -25 | c.455 others(44): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240985001 | ACACACAC others(18): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01099.hp2 others(51): Show |
a0001a0005a0007others(9): Show | a0001c0001a0005c0005a0007c0006others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0236a0001c0001t0003g0003a0001c0001t0003g0064others(48): Show | 54 | 350 | 0.1543 | -25 | c.455 others(44): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240985258 | CCACACAC others(18): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0033 | 1 | 350 | 0.0029 | -25 | c.455 others(44): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240985386 | CCACACAC others(18): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02129.hp1 HG02129.hp2 others(9): Show |
a0001a0005a0007others(3): Show | a0001c0001a0001c0022a0005c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0002others(5): Show | a0001c0001t0001g0156a0001c0001t0001g0191a0001c0001t0002g0308others(9): Show | 12 | 350 | 0.0343 | -25 | c.455 others(44): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240985707 | ACACACAC others(18): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01257.hp2 others(5): Show |
a0002a0003a0006others(3): Show | a0002c0002a0003c0003a0006c0007others(3): Show | a0002c0002t0002a0003c0003t0001a0003c0003t0002others(4): Show | a0002c0002t0002g0259a0003c0003t0001g0020a0003c0003t0001g0049others(5): Show | 8 | 350 | 0.0229 | -25 | c.455 others(44): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CRTAC1_chr10_97860000_98035621 | 97904002 | AGGCCTGG others(18): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02622.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0017 | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0069a0001c0004t0001g0023others(6): Show | 9 | 204 | 0.0441 | -25 | c.996 others(40): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 7/14 | chr10 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107098202 | AAAAGGAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02109.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0144a0001c0001t0005g0232a0001c0001t0005g0234others(1): Show | 4 | 320 | 0.0125 | -25 | c.-52 others(36): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 4654 | chr12 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106542608 | CATTTTAT others(18): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01243.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0004others(1): Show | a0001c0001t0001a0002c0003t0010a0004c0004t0002others(1): Show | a0001c0001t0001g0131a0001c0001t0001g0258a0002c0003t0010g0234others(5): Show | 8 | 272 | 0.0294 | -25 | c.488 others(42): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CSAG1_chrX_152722484_152738721 | 152734158 | TCCCATCC others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012 | 4 | 318 | 0.0126 | -25 | c.-56 others(34): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 438 | chrX | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666792 | AAAGAAAG others(18): Show |
A | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 238 | 0.0042 | -25 | c.-39 others(46): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT2_chr10_43133445_43190302 | 43167323 | TTTAGGTC others(18): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 398 | 0.0025 | -25 | c.125 others(42): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CSKMT_chr11_62660312_62673108 | 62665952 | GAGGTGGG others(18): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 362 | 0.0028 | -25 | c.67+ others(36): Show |
CSKMT | ENSG00000214756.8 | transcript | ENST00000532971.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3077206 | GTGAGAAC others(18): Show |
G | intron_variant | MODIFIER | HG02280.hp2 NA20129.hp2 |
a0001a0003 | a0001c0111a0003c0034 | a0001c0111t0045a0003c0034t0030 | a0001c0111t0045g0063a0003c0034t0030g0038 | 2 | 126 | 0.0159 | -25 | c.747 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3083630 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01123.hp2 HG02129.hp1 others(8): Show |
a0001a0007a0025others(3): Show | a0001c0003a0001c0006a0001c0021others(8): Show | a0001c0003t0008a0001c0006t0060a0001c0021t0005others(8): Show | a0001c0003t0008g0053a0001c0006t0060g0103a0001c0021t0005g0012others(8): Show | 11 | 126 | 0.0873 | -25 | c.747 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3194408 | CTATTTTA others(18): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02723.hp2 others(1): Show |
a0002a0005a0009others(1): Show | a0002c0084a0005c0065a0009c0113others(1): Show | a0002c0084t0018a0005c0065t0023a0009c0113t0011others(1): Show | a0002c0084t0018g0087a0005c0065t0023g0050a0009c0113t0011g0043others(1): Show | 4 | 126 | 0.0318 | -25 | c.519 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 33/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3440206 | TTATAACA others(18): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01255.hp1 HG01884.hp1 others(16): Show |
a0001a0002a0003others(4): Show | a0001c0043a0001c0045a0001c0046others(16): Show | a0001c0043t0031a0001c0045t0012a0001c0046t0073others(16): Show | a0001c0043t0031g0044a0001c0045t0012g0010a0001c0046t0073g0091others(16): Show | 19 | 126 | 0.1508 | -25 | c.156 others(46): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3485762 | AAAAATAA others(18): Show |
A | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0019a0001c0093 | a0001c0019t0078a0001c0093t0009 | a0001c0019t0078g0105a0001c0093t0009g0007 | 2 | 126 | 0.0159 | -25 | c.144 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 11/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3729937 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0093 | a0001c0093t0009 | a0001c0093t0009g0007 | 1 | 126 | 0.0079 | -25 | c.932 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3796264 | TATAGATA others(18): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02074.hp2 HG02257.hp1 others(2): Show |
a0002a0007a0030 | a0002c0031a0002c0091a0002c0092others(2): Show | a0002c0031t0015a0002c0091t0002a0002c0092t0001others(2): Show | a0002c0031t0015g0001a0002c0091t0002g0114a0002c0092t0001g0011others(2): Show | 5 | 126 | 0.0397 | -25 | c.819 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02129.hp1 NA18984.hp2 others(1): Show |
a0001a0002a0028 | a0001c0003a0001c0103a0002c0076others(1): Show | a0001c0003t0013a0001c0103t0033a0002c0076t0035others(1): Show | a0001c0003t0013g0026a0001c0103t0033g0028a0002c0076t0035g0014others(1): Show | 4 | 126 | 0.0318 | -25 | c.819 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4583739 | ACAGACCA others(18): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02451.hp2 HG02622.hp2 |
a0010a0029a0032 | a0010c0112a0029c0028a0032c0011 | a0010c0112t0081a0029c0028t0024a0032c0011t0065 | a0010c0112t0081g0090a0029c0028t0024g0040a0032c0011t0065g0101 | 3 | 126 | 0.0238 | -25 | c.302 others(44): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar |