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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPQ_chr8_96640242_97148501 | 96717024 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 16 | 0.0625 | -28 | c.-34 others(47): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96717051 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02723.hp2 others(3): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0028 a0001c0002t0001g0005 a0001c0002t0001g0006 others(3): Show |
6 | 124 | 0.0484 | -28 | c.-34 others(47): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96777750 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0090 | 1 | 124 | 0.0081 | -28 | c.-34 others(45): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96880518 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01517.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 others(24): Show |
27 | 34 | 0.7941 | -28 | c.849 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPS1_chr2_210551599_210684107 | 210571855 | TTGTGTGT others(21): Show |
T | intron_variant | MODIFIER | HG03225.hp1 NA21309.hp1 |
a0001a0003 | a0001c0032a0003c0031 | a0001c0032t0026a0003c0031t0002 | a0001c0032t0026g0015 a0003c0031t0002g0018 |
2 | 40 | 0.0500 | -28 | c.127 others(45): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF6_chr12_69234569_69279358 | 69236549 | TATAGCAT others(21): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01071.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0073a0001c0001t0074a0001c0002t0001others(10): Show | a0001c0001t0073g0142 a0001c0001t0074g0002 a0001c0002t0001g0001 others(28): Show |
44 | 390 | 0.1128 | -28 | c.-30 others(39): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3019 | chr12 | TogoVar | |||||||
CPSF7_chr11_61397729_61434975 | 61421816 | CTGTTAAT others(21): Show |
C | intron_variant | MODIFIER | NA18906.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 188 | 0.0106 | -28 | c.55- others(41): Show |
CPSF7 | ENSG00000149532.16 | transcript | ENST00000439958.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29069770 | ATGTGTGT others(21): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01167.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0006 | a0001c0001t0001a0002c0004t0001a0003c0006t0001 | a0001c0001t0001g0070 a0001c0001t0001g0134 a0001c0001t0001g0136 others(11): Show |
14 | 33 | 0.4242 | -28 | c.864 others(45): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8610967 | ATCACTCA others(21): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 440 | 0.0023 | -28 | c.122 others(47): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207581187 | CATGGACA others(21): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0309 | 1 | 331 | 0.0030 | -28 | c.521 others(45): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 31/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617590 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0310 | 1 | 351 | 0.0028 | -28 | c.689 others(45): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617592 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | NA18967.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0153 | 1 | 342 | 0.0029 | -28 | c.689 others(45): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617594 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG04204.hp1 NA18994.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 a0002c0002t0001g0298 |
2 | 331 | 0.0060 | -28 | c.689 others(45): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617596 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0176 | 1 | 329 | 0.0030 | -28 | c.689 others(45): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617598 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125 | 1 | 337 | 0.0030 | -28 | c.689 others(45): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617600 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG03098.hp1 |
a0012a0025 | a0012c0021a0025c0040 | a0012c0021t0005a0025c0040t0005 | a0012c0021t0005g0068 a0025c0040t0005g0069 |
2 | 317 | 0.0063 | -28 | c.689 others(45): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617602 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG01981.hp2 HG03471.hp1 NA21309.hp2 |
a0002a0004a0008 | a0002c0002a0004c0004a0008c0010 | a0002c0002t0001a0004c0004t0001a0008c0010t0007 | a0002c0002t0001g0036 a0004c0004t0001g0079 a0008c0010t0007g0043 |
3 | 315 | 0.0095 | -28 | c.689 others(45): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617604 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02922.hp1 |
a0012 | a0012c0021a0012c0028 | a0012c0021t0005a0012c0028t0005 | a0012c0021t0005g0255 a0012c0028t0005g0067 |
2 | 325 | 0.0062 | -28 | c.689 others(45): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617610 | TATAGAGA others(21): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0337 | 1 | 342 | 0.0029 | -28 | c.689 others(45): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRACDL_chr2_98788846_98941225 | 98889285 | GAGAAAGA others(21): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0012others(5): Show | a0001c0001t0001a0001c0010t0001a0001c0012t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0015 others(83): Show |
87 | 139 | 0.6259 | -28 | c.-10 others(47): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CRACD_chr4_56044098_56335609 | 56295660 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02451.hp1 others(3): Show |
a0001a0005a0009others(1): Show | a0001c0001a0005c0009a0009c0015others(1): Show | a0001c0001t0004a0005c0009t0003a0009c0015t0006others(1): Show | a0001c0001t0004g0042 a0001c0001t0004g0057 a0005c0009t0003g0003 others(3): Show |
6 | 17 | 0.3529 | -28 | c.-16 others(45): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197354814 | CCCGCCCC others(21): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 184 | 0.0054 | -28 | c.989 others(45): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197354817 | GCCCCCCC others(21): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 159 | 0.0063 | -28 | c.989 others(45): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CREB3L1_chr11_46272662_46326409 | 46305628 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG02155.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0072 a0001c0001t0001g0152 a0001c0001t0002g0014 others(12): Show |
17 | 260 | 0.0654 | -28 | c.332 others(45): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137899096 | AGAAGGAA others(21): Show |
A | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 155 | 0.0065 | -28 | c.104 others(47): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137922410 | ATATATGT others(21): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0024 | 1 | 278 | 0.0036 | -28 | c.319 others(45): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137972736 | TAGAGAGA others(21): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0003 | a0003c0003t0034 | a0003c0003t0034g0203 | 1 | 156 | 0.0064 | -28 | c.102 others(47): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28560865 | CCTGCGTG others(21): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0009 | 1 | 189 | 0.0053 | -28 | c.292 others(45): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28642959 | CACACACA others(21): Show |
C | intron_variant | MODIFIER | HG02083.hp1 NA18957.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(1): Show | a0001c0001t0001g0089 a0001c0001t0007g0114 a0001c0001t0013g0157 others(1): Show |
4 | 196 | 0.0204 | -28 | c.464 others(47): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28696772 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0020 | a0001c0001t0004g0010 a0001c0001t0006g0035 a0001c0001t0006g0036 others(1): Show |
4 | 187 | 0.0214 | -28 | c.465 others(47): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3849378 | CGTGTGTG others(21): Show |
C | intron_variant | MODIFIER | NA18972.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0002g0077 |
2 | 213 | 0.0094 | -28 | c.798 others(43): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBZF_chr11_85652990_85670129 | 85669001 | CAAAAAAA others(21): Show |
C | upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 6 | 0.1667 | -28 | c.-41 others(39): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 3873 | chr11 | TogoVar | |||||||
CREG2_chr2_101340550_101392503 | 101341296 | CAAAAAAA others(21): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 others(128): Show |
195 | 204 | 0.9559 | -28 | c.*95 others(39): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 4253 | chr2 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49922900 | TGGGGCGT others(21): Show |
T | intron_variant | MODIFIER | HG02922.hp1 NA18968.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0001a0002c0012t0001 | a0001c0001t0001g0040 a0002c0012t0001g0088 a0002c0012t0001g0089 |
3 | 234 | 0.0128 | -28 | c.688 others(43): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198187 | GGAAGGCA others(21): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02897.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0004a0002c0028 | a0001c0003t0001a0002c0004t0001a0002c0028t0001 | a0001c0003t0001g0123 a0002c0004t0001g0004 a0002c0004t0001g0005 others(1): Show |
4 | 159 | 0.0252 | -28 | c.646 others(43): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5825855 | GCATGCAT others(21): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0198 |
2 | 312 | 0.0064 | -28 | c.180 others(45): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 12/13 | chr4 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16089202 | ACGTACGT others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02895.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0028a0001c0001t0033others(3): Show | a0001c0001t0003g0014 a0001c0001t0003g0022 a0001c0001t0003g0199 others(5): Show |
8 | 237 | 0.0338 | -28 | c.*24 others(39): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 10/10 | 2465 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16089400 | AATGTGTA others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01891.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0002c0002t0031a0002c0002t0079 | a0001c0001t0031g0091 a0002c0002t0031g0235 a0002c0002t0079g0234 |
3 | 287 | 0.0105 | -28 | c.*22 others(39): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 10/10 | 2267 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16387062 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02040.hp2 HG02056.hp1 others(6): Show |
a0001a0006a0007 | a0001c0001a0006c0007a0007c0008 | a0001c0001t0002a0001c0001t0007a0001c0001t0027others(3): Show | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0031 others(6): Show |
9 | 288 | 0.0313 | -28 | c.535 others(47): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16414350 | AACACACA others(21): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01255.hp2 others(65): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0194 others(65): Show |
68 | 121 | 0.5620 | -28 | c.257 others(45): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 97894711 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG03471.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0002g0028 |
2 | 32 | 0.0625 | -28 | c.148 others(45): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 11/14 | chr10 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90564904 | ACCTTCCT others(21): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(145): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0015others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(142): Show |
148 | 168 | 0.8810 | -28 | c.231 others(47): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647547 | TCTCCTCT others(21): Show |
T | downstream_gene_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 | 1 | 274 | 0.0036 | -28 | c.*54 others(39): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2203 | chr15 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218763 | GAGAGAGA others(21): Show |
G | upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 447 | 0.0022 | -28 | c.-92 others(37): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 875 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | GAAGAAAG others(21): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG03654.hp2 HG03942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0079 a0001c0001t0001g0080 |
5 | 171 | 0.0292 | -28 | c.-91 others(37): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106433731 | ATATACAT others(21): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG03491.hp2 HG03492.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0006 | a0001c0001t0001g0020 a0001c0001t0001g0103 a0001c0001t0001g0184 others(4): Show |
7 | 265 | 0.0264 | -28 | c.174 others(47): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106455976 | ACTTGTCT others(21): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0049 | a0049c0078 | a0049c0078t0002 | a0049c0078t0002g0007 | 1 | 269 | 0.0037 | -28 | c.312 others(45): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20453396 | TTTTGAAT others(21): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0086 others(24): Show |
27 | 194 | 0.1392 | -28 | c.277 others(47): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CSDC2_chr22_41556010_41581666 | 41572363 | CCCACCCA others(21): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01258.hp2 NA18973.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0021g0092 others(1): Show |
4 | 251 | 0.0159 | -28 | c.176 others(43): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSDE1_chr1_114711916_114762984 | 114754249 | CCCCAAAG others(21): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 326 | 0.0031 | -28 | c.-38 others(47): Show |
CSDE1 | ENSG00000009307.17 | transcript | ENST00000358528.9 | protein_coding | 1/19 | chr1 | TogoVar |