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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPED1_chr7_120983711_121302442 | 121241347 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02818.hp1 HG02965.hp2 others(3): Show |
a0003 | a0003c0005a0003c0006a0003c0016 | a0003c0005t0003a0003c0006t0001a0003c0016t0005 | a0003c0005t0003g0016a0003c0005t0003g0017a0003c0006t0001g0039others(3): Show | 6 | 140 | 0.0429 | -24 | c.217 others(43): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPLANE1_chr5_37101235_37254376 | 37245297 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG02027.hp1 others(6): Show |
a0001a0011a0021 | a0001c0001a0011c0014a0021c0034 | a0001c0001t0001a0011c0014t0001a0011c0014t0008others(1): Show | a0001c0001t0001g0167a0001c0001t0001g0228a0001c0001t0001g0231others(6): Show | 9 | 268 | 0.0336 | -24 | c.337 others(39): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 4/52 | chr5 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 785276 | AGAGGGGC others(17): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01256.hp1 HG01258.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0015a0001c0001t0013g0074 | 3 | 416 | 0.0072 | -24 | c.*12 others(35): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 4/4 | 1201 | chr4 | TogoVar | |||||
CPNE2_chr16_57087583_57153369 | 57118668 | GGATGGAT others(17): Show |
G | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 362 | 0.0028 | -24 | c.508 others(39): Show |
CPNE2 | ENSG00000140848.17 | transcript | ENST00000290776.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE4_chr3_131528569_132040014 | 131580388 | CTATACAT others(17): Show |
C | intron_variant | MODIFIER | HG03516.hp2 NA18939.hp1 NA18982.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0002t0014others(1): Show | a0001c0001t0001g0011a0001c0001t0007g0002a0001c0002t0014g0065others(1): Show | 4 | 94 | 0.0426 | -24 | c.867 others(41): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131615905 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0010a0001c0005t0001 | a0001c0004t0010g0086a0001c0005t0001g0012 | 2 | 94 | 0.0213 | -24 | c.682 others(43): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131792648 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 94 | 0.0106 | -24 | c.181 others(43): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131814572 | ATTTTTTT others(17): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03098.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0001 | a0001c0001t0002g0075a0001c0001t0008g0066a0001c0002t0001g0020 | 3 | 94 | 0.0319 | -24 | c.180 others(43): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89580793 | CACACGGA others(17): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0295 | 1 | 348 | 0.0029 | -24 | c.358 others(41): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89580839 | ATCACACG others(17): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 348 | 0.0029 | -24 | c.358 others(41): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89598255 | CCCGCCCA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG00733.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(4): Show | a0001c0001t0001g0021a0001c0001t0001g0040a0001c0001t0001g0045others(21): Show | 24 | 348 | 0.0690 | -24 | c.*16 others(35): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 1010 | chr16 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38894658 | ACTCTCTC others(17): Show |
A | intron_variant | MODIFIER | HG02129.hp2 HG02698.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0011 | a0001c0001t0003g0204a0001c0003t0011g0001a0001c0003t0011g0002others(1): Show | 4 | 342 | 0.0117 | -24 | c.98+ others(41): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96717024 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02717.hp1 NA19057.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0064a0001c0002t0001g0122a0001c0002t0001g0123 | 3 | 126 | 0.0238 | -24 | c.-34 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96777746 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 126 | 0.0079 | -24 | c.-34 others(41): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96880518 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0038 | 1 | 126 | 0.0079 | -24 | c.849 others(39): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPS1_chr2_210551599_210684107 | 210574162 | TGAGTTCT others(17): Show |
T | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 | 1 | 340 | 0.0029 | -24 | c.236 others(39): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | TogoVar | ||||||
CPSF3_chr2_9418654_9478101 | 9466248 | GCGCACAC others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01074.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0049others(34): Show | 41 | 230 | 0.1783 | -24 | c.178 others(43): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPT1B_chr22_50563861_50583427 | 50573746 | GGGGCCCC others(17): Show |
G | intron_variant | MODIFIER | NA19003.hp1 | a0010 | a0010c0023 | a0010c0023t0001 | a0010c0023t0001g0056 | 1 | 414 | 0.0024 | -24 | c.971 others(37): Show |
CPT1B | ENSG00000205560.13 | transcript | ENST00000312108.12 | protein_coding | 9/19 | chr22 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207686082 | CCCTTCCT others(17): Show |
C | intron_variant | MODIFIER | HG03704.hp2 HG03710.hp2 NA20905.hp1 |
a0014a0015 | a0014c0023a0015c0024 | a0014c0023t0001a0015c0024t0001 | a0014c0023t0001g0261a0015c0024t0001g0260a0015c0024t0001g0262 | 3 | 346 | 0.0087 | -24 | c.463 others(41): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207617594 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG01981.hp1 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0204 | 1 | 360 | 0.0028 | -24 | c.689 others(41): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207617596 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0196 | 1 | 360 | 0.0028 | -24 | c.689 others(41): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207617600 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02040.hp1 HG02109.hp1 HG03688.hp2 |
a0001a0012a0014 | a0001c0001a0012c0013a0014c0020 | a0001c0001t0003a0012c0013t0013a0014c0020t0002 | a0001c0001t0003g0276a0012c0013t0013g0006a0014c0020t0002g0020 | 3 | 360 | 0.0083 | -24 | c.689 others(41): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207617602 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0041 | 1 | 360 | 0.0028 | -24 | c.689 others(41): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207617604 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp2 NA20300.hp2 |
a0001a0012 | a0001c0001a0012c0013 | a0001c0001t0002a0012c0013t0001 | a0001c0001t0002g0229a0012c0013t0001g0255 | 2 | 360 | 0.0056 | -24 | c.689 others(41): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRACDL_chr2_98788846_98941225 | 98889285 | GAGAAAGA others(17): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02630.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0183others(4): Show | 7 | 316 | 0.0222 | -24 | c.-10 others(43): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56180489 | AAAATAAA others(17): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0005 | a0005c0005t0006 | a0005c0005t0006g0001 | 1 | 250 | 0.0040 | -24 | c.-18 others(43): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CRACD_chr4_56044098_56335609 | 56295660 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00741.hp1 others(36): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0003a0002c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0023a0001c0001t0001g0051a0001c0001t0001g0102others(36): Show | 39 | 250 | 0.1560 | -24 | c.-16 others(41): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CRACR2A_chr12_3610328_3758109 | 3660865 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0029 | a0029c0026 | a0029c0026t0002 | a0029c0026t0002g0092 | 1 | 320 | 0.0031 | -24 | c.672 others(41): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 7/19 | chr12 | TogoVar | ||||||
CRACR2A_chr12_3610328_3758109 | 3720416 | GAAGAAAG others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp1 others(24): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0034others(24): Show | 27 | 320 | 0.0844 | -24 | c.-11 others(43): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197354832 | CCCCCCGC others(17): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 186 | 0.0054 | -24 | c.989 others(41): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRB2_chr9_123351197_123383753 | 123367427 | CCACCCCC others(17): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0033 | a0002c0033t0002 | a0002c0033t0002g0059 | 1 | 432 | 0.0023 | -24 | c.940 others(38): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CRB3_chr19_6459271_6472221 | 6461233 | GTTTTTTT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -24 | c.-32 others(35): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | ||||||
CREB3L1_chr11_46272662_46326409 | 46326363 | AAGGGAGG others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02809.hp2 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0006a0003c0003t0007 | a0003c0003t0002g0002a0003c0003t0006g0002a0003c0003t0006g0088others(7): Show | 12 | 304 | 0.0395 | -24 | c.*56 others(35): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 4955 | chr11 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137899096 | AGAAGGAA others(17): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02027.hp1 HG02071.hp2 others(12): Show |
a0001a0002a0003 | a0001c0007a0002c0002a0002c0006others(2): Show | a0001c0007t0023a0002c0002t0003a0002c0002t0005others(6): Show | a0001c0007t0023g0153a0002c0002t0003g0040a0002c0002t0003g0108others(12): Show | 15 | 288 | 0.0521 | -24 | c.104 others(43): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137922370 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03225.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0046a0001c0004t0056 | a0001c0001t0008g0210a0001c0001t0046g0276a0001c0004t0056g0250 | 3 | 288 | 0.0104 | -24 | c.319 others(41): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137922414 | ATGTATAT others(17): Show |
A | intron_variant | MODIFIER | HG02071.hp2 NA18950.hp2 NA18983.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0040a0002c0002t0003g0108a0002c0002t0005g0049 | 3 | 288 | 0.0104 | -24 | c.319 others(41): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137946880 | CTATATAG others(17): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0149 | 1 | 288 | 0.0035 | -24 | c.103 others(43): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137972736 | TAGAGAGA others(17): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016a0001c0001t0005g0035 | 2 | 288 | 0.0069 | -24 | c.102 others(43): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28451450 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 198 | 0.0051 | -24 | c.4-3 others(39): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28642963 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0050 | a0001c0001t0006g0153a0001c0001t0050g0032 | 2 | 198 | 0.0101 | -24 | c.464 others(43): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREB5_chr7_28407518_28830894 | 28737539 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0182 | 1 | 198 | 0.0051 | -24 | c.702 others(43): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CREBBP_chr16_3720054_3885713 | 3849378 | CGTGTGTG others(17): Show |
C | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 286 | 0.0035 | -24 | c.798 others(39): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3852035 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 286 | 0.0035 | -24 | c.86- others(39): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173124322 | CCAAGGCG others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(105): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0205a0001c0001t0002g0206a0001c0001t0002g0209others(105): Show | 108 | 292 | 0.3699 | -24 | c.180 others(43): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CREBZF_chr11_85652990_85670129 | 85669001 | CAAAAAAA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 392 | 0.0026 | -24 | c.-41 others(35): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 3873 | chr11 | TogoVar | ||||||
CRELD1_chr3_9928834_9950406 | 9931462 | CACACACA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02155.hp1 HG02615.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0106a0001c0001t0001g0122others(2): Show | 6 | 402 | 0.0149 | -24 | c.-24 others(35): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 2371 | chr3 | TogoVar | ||||||
CREM_chr10_35121846_35217953 | 35158798 | GTTTTTTT others(17): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 294 | 0.0034 | -24 | c.168 others(43): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CRHBP_chr5_76948045_76974471 | 76971924 | TCTGCTTT others(17): Show |
T | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 416 | 0.0024 | -24 | c.*30 others(35): Show |
CRHBP | ENSG00000145708.11 | transcript | ENST00000274368.9 | protein_coding | 2454 | chr5 | TogoVar | ||||||
CRISPLD2_chr16_84814985_84914508 | 84865465 | GGATTTTA others(17): Show |
G | intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0152 | 1 | 380 | 0.0026 | -24 | c.710 others(41): Show |
CRISPLD2 | ENSG00000103196.12 | transcript | ENST00000262424.10 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CRISPLD2_chr16_84814985_84914508 | 84913029 | GTGTGTGT others(17): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG03471.hp2 |
a0001a0004 | a0001c0002a0004c0008a0004c0011 | a0001c0002t0002a0004c0008t0006a0004c0011t0002 | a0001c0002t0002g0074a0004c0008t0006g0243a0004c0011t0002g0267 | 3 | 380 | 0.0079 | -24 | c.*63 others(35): Show |
CRISPLD2 | ENSG00000103196.12 | transcript | ENST00000262424.10 | protein_coding | 3522 | chr16 | TogoVar |