| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CPVL_chr7_28990235_29151537 | 29123597 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | NA19070.hp2 homoSapiens_chm13v2.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0274a0003c0003t0001g0097 | 2 | 282 | 0.0071 | -18 | c.-10 others(35): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
| CPXM2_chr10_123740639_123896807 | 123857540 | AGCGATGG others(11): Show |
A | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0215 | 1 | 288 | 0.0035 | -18 | c.513 others(35): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
| CPXM2_chr10_123740639_123896807 | 123857542 | CGATGGAA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(63): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(63): Show | 66 | 288 | 0.2292 | -18 | c.513 others(35): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
| CPXM2_chr10_123740639_123896807 | 123878506 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03225.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0267a0001c0001t0002g0040a0001c0001t0005g0259 | 3 | 288 | 0.0104 | -18 | c.403 others(35): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
| CP_chr3_149167497_149226829 | 149172318 | TCACACAC others(11): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0093 | 1 | 376 | 0.0027 | -18 | c.*13 others(29): Show |
CP | ENSG00000047457.14 | transcript | ENST00000264613.11 | protein_coding | 178 | chr3 | TogoVar | ||||||
| CR1L_chr1_207640133_207728703 | 207664839 | AAGATAAT others(11): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0024 | a0024c0029 | a0024c0029t0001 | a0024c0029t0001g0041 | 1 | 346 | 0.0029 | -18 | c.98- others(35): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1L_chr1_207640133_207728703 | 207669393 | TATTTCAG others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
a0001a0002a0005others(12): Show | a0001c0001a0002c0002a0002c0035others(14): Show | a0001c0001t0001a0002c0002t0001a0002c0035t0001others(14): Show | a0001c0001t0001g0278a0001c0001t0001g0280a0001c0001t0001g0282others(118): Show | 126 | 346 | 0.3642 | -18 | c.98- others(33): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617600 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG03225.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0002a0008c0011t0006 | a0001c0001t0002g0235a0001c0001t0002g0238a0008c0011t0006g0074others(2): Show | 5 | 360 | 0.0139 | -18 | c.689 others(35): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617602 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | NA18989.hp2 NA18993.hp2 NA19070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(1): Show | 4 | 360 | 0.0111 | -18 | c.689 others(35): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617604 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02165.hp1 HG02738.hp2 NA18612.hp2 others(1): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0011 | a0001c0001t0002a0003c0003t0003a0008c0011t0006 | a0001c0001t0002g0253a0001c0001t0002g0286a0003c0003t0003g0143others(1): Show | 4 | 360 | 0.0111 | -18 | c.689 others(35): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617606 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG02056.hp2 HG02083.hp2 others(4): Show |
a0001a0013a0022others(1): Show | a0001c0001a0013c0012a0022c0029others(1): Show | a0001c0001t0002a0001c0001t0010a0013c0012t0001others(3): Show | a0001c0001t0002g0248a0001c0001t0010g0339a0001c0001t0010g0340others(4): Show | 7 | 360 | 0.0194 | -18 | c.689 others(35): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617608 | TATATAGA others(11): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG02056.hp1 NA18951.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0003 | a0001c0001t0002g0187a0001c0001t0002g0234a0001c0001t0002g0239others(1): Show | 4 | 360 | 0.0111 | -18 | c.689 others(35): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617610 | TATAGAGA others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 |
a0007a0013 | a0007c0008a0013c0012 | a0007c0008t0003a0013c0012t0001 | a0007c0008t0003g0061a0013c0012t0001g0028 | 2 | 360 | 0.0056 | -18 | c.689 others(35): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617612 | TAGAGAGA others(11): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0109 | 1 | 360 | 0.0028 | -18 | c.689 others(35): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207623587 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG01891.hp2 HG01978.hp1 others(4): Show |
a0002a0005a0008others(3): Show | a0002c0002a0005c0005a0008c0011others(3): Show | a0002c0002t0001a0005c0005t0002a0008c0011t0001others(3): Show | a0002c0002t0001g0294a0005c0005t0002g0326a0008c0011t0001g0078others(4): Show | 7 | 360 | 0.0194 | -18 | c.735 others(35): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 45/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR2_chr1_207449328_207494892 | 207458059 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | NA18943.hp2 NA18983.hp2 |
a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0043 | 2 | 378 | 0.0053 | -18 | c.58+ others(33): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR2_chr1_207449328_207494892 | 207484330 | TTTATTTC others(11): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 378 | 0.0027 | -18 | c.318 others(37): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
| CRACD_chr4_56044098_56335609 | 56066775 | CAGTTCTA others(11): Show |
C | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 250 | 0.0040 | -18 | c.-33 others(39): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 1/10 | chr4 | TogoVar | ||||||
| CRACD_chr4_56044098_56335609 | 56295660 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00741.hp2 others(18): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0031others(8): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(11): Show | a0001c0001t0003g0054a0001c0001t0003g0107a0001c0001t0003g0187others(18): Show | 21 | 250 | 0.0840 | -18 | c.-16 others(35): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRACR2A_chr12_3610328_3758109 | 3660829 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01433.hp2 NA18951.hp2 NA18964.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0137a0001c0001t0001g0152a0001c0001t0001g0172others(4): Show | 7 | 320 | 0.0219 | -18 | c.672 others(35): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 7/19 | chr12 | TogoVar | ||||||
| CRACR2B_chr11_822919_836986 | 833070 | GGCGAGGG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0005 | a0005c0004 | a0005c0004t0012 | a0005c0004t0012g0021 | 1 | 448 | 0.0022 | -18 | c.*13 others(29): Show |
CRACR2B | ENSG00000177685.17 | transcript | ENST00000525077.2 | protein_coding | 1085 | chr11 | TogoVar | ||||||
| CRACR2B_chr11_822919_836986 | 833195 | GCCCAGCT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0014a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0017others(48): Show | 339 | 448 | 0.7567 | -18 | c.*14 others(29): Show |
CRACR2B | ENSG00000177685.17 | transcript | ENST00000525077.2 | protein_coding | 1210 | chr11 | TogoVar | ||||||
| CRAMP1_chr16_1607360_1682908 | 1667631 | AGCTCTGG others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00642.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002a0001c0001t0004g0014a0001c0001t0004g0061others(17): Show | 24 | 332 | 0.0723 | -18 | c.310 others(35): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CRB1_chr1_197263252_197483455 | 197354824 | CACCCCCC others(11): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 186 | 0.0054 | -18 | c.989 others(35): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
| CRB2_chr9_123351197_123383753 | 123359430 | GTTTTTGT others(11): Show |
G | intron_variant | MODIFIER | NA18990.hp1 NA19011.hp1 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046a0001c0002t0002g0240 | 3 | 432 | 0.0069 | -18 | c.94+ others(33): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CRB3_chr19_6459271_6472221 | 6461233 | GTTTTTTT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00597.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0002t0001g0015others(1): Show | 31 | 390 | 0.0795 | -18 | c.-32 others(29): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | ||||||
| CRBN_chr3_3145011_3184691 | 3183951 | AGTGTGTG others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(1): Show | a0001c0001t0001g0037a0001c0001t0012g0035a0001c0002t0001g0001others(2): Show | 7 | 376 | 0.0186 | -18 | c.-42 others(29): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 4261 | chr3 | TogoVar | ||||||
| CRCP_chr7_66109847_66159568 | 66124044 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 380 | 0.0026 | -18 | c.9-3 others(31): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB3L2_chr7_137869979_138007086 | 137922398 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA19087.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0258 | 1 | 288 | 0.0035 | -18 | c.319 others(35): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 137969819 | AAAAATAA others(11): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02258.hp1 HG02572.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0006others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0007t0023others(2): Show | a0001c0001t0005g0016a0001c0001t0005g0035a0001c0001t0008g0214others(3): Show | 6 | 288 | 0.0208 | -18 | c.102 others(37): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 137972736 | TAGAGAGA others(11): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0054 | 1 | 288 | 0.0035 | -18 | c.102 others(37): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 138001082 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02630.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0016others(5): Show | a0001c0001t0005g0030a0001c0001t0005g0035a0001c0001t0007g0029others(7): Show | 10 | 288 | 0.0347 | -18 | c.102 others(33): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CREB5_chr7_28407518_28830894 | 28607735 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01243.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0109a0001c0001t0002g0136a0001c0001t0002g0143others(11): Show | 14 | 198 | 0.0707 | -18 | c.464 others(37): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28608113 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(7): Show | a0001c0001t0002g0136a0001c0001t0002g0143a0001c0001t0002g0191others(12): Show | 15 | 198 | 0.0758 | -18 | c.464 others(37): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28642969 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0179 | 1 | 198 | 0.0051 | -18 | c.464 others(37): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28737527 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 198 | 0.0051 | -18 | c.702 others(37): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28737538 | CGTATATA others(11): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 198 | 0.0051 | -18 | c.702 others(37): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | chr7 | TogoVar | ||||||
| CREB5_chr7_28407518_28830894 | 28737539 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 HG01255.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0081a0001c0001t0001g0084a0001c0001t0002g0018others(15): Show | 18 | 198 | 0.0909 | -18 | c.702 others(37): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28790444 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 198 | 0.0051 | -18 | c.703 others(37): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREBBP_chr16_3720054_3885713 | 3768136 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02080.hp1 HG02615.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0026a0001c0032others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0028others(3): Show | a0001c0001t0001g0077a0001c0001t0001g0173a0001c0001t0002g0060others(4): Show | 7 | 286 | 0.0245 | -18 | c.306 others(35): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 15/30 | chr16 | TogoVar | ||||||
| CREBBP_chr16_3720054_3885713 | 3814215 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG02976.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0028a0001c0003t0002others(3): Show | a0001c0001t0001g0110a0001c0001t0028g0001a0001c0003t0002g0152others(5): Show | 8 | 286 | 0.0280 | -18 | c.799 others(35): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
| CREBBP_chr16_3720054_3885713 | 3849378 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG03942.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042a0001c0001t0002g0057 | 2 | 286 | 0.0070 | -18 | c.798 others(33): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
| CREBRF_chr5_173051352_173144284 | 173122569 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 292 | 0.0034 | -18 | c.168 others(35): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CREBRF_chr5_173051352_173144284 | 173132434 | TCCCCTCC others(11): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01106.hp1 HG01261.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0020a0003c0006t0001 | a0001c0001t0001g0003a0001c0001t0001g0082a0001c0001t0001g0089others(9): Show | 12 | 292 | 0.0411 | -18 | c.180 others(37): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CREBRF_chr5_173051352_173144284 | 173134255 | GATATATA others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0260 | 1 | 292 | 0.0034 | -18 | c.*52 others(27): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 9/9 | 520 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
| CREBZF_chr11_85652990_85670129 | 85669001 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 392 | 0.0051 | -18 | c.-41 others(29): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 3873 | chr11 | TogoVar | ||||||
| CREG1_chr1_167536013_167558762 | 167558195 | AGAATAGA others(11): Show |
A | upstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 418 | 0.0024 | -18 | c.-44 others(29): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 4434 | chr1 | TogoVar | ||||||
| CREG2_chr2_101340550_101392503 | 101359055 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02040.hp2 HG02056.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0048others(1): Show | a0001c0001t0002g0009a0001c0001t0002g0036a0001c0001t0002g0159others(14): Show | 23 | 388 | 0.0593 | -18 | c.612 others(35): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| CREG2_chr2_101340550_101392503 | 101389023 | TATATATA others(11): Show |
T | upstream_gene_variant | MODIFIER | NA18945.hp1 NA18967.hp2 NA18992.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0004a0001c0001t0002g0163a0001c0001t0004g0035others(2): Show | 6 | 388 | 0.0155 | -18 | c.-15 others(29): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 1521 | chr2 | TogoVar | ||||||
| CREG2_chr2_101340550_101392503 | 101390744 | GATTATTA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG01261.hp1 NA18957.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0058 | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0058g0286 | 3 | 388 | 0.0077 | -18 | c.-33 others(29): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 3242 | chr2 | TogoVar |