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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNIH4_chr1_224351879_224384452 | 224378516 | ACTGAGGC others(42): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00738.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0018 others(24): Show |
43 | 58 | 0.7414 | -49 | c.*30 others(60): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 5/5 | 3045 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNNM4_chr2_96755902_96816874 | 96806105 | GGGGGCGG others(42): Show |
G | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 267 | 0.0037 | -49 | c.194 others(68): Show |
CNNM4 | ENSG00000158158.12 | transcript | ENST00000377075.3 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180534659 | GCTGGGGT others(42): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00733.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0015others(11): Show | a0001c0001t0006g0009 a0001c0001t0006g0122 a0001c0001t0006g0124 others(50): Show |
53 | 272 | 0.1949 | -49 | c.112 others(66): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180535022 | CGGAATCC others(42): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00733.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0015others(11): Show | a0001c0001t0006g0009 a0001c0001t0006g0122 a0001c0001t0006g0124 others(50): Show |
53 | 332 | 0.1596 | -49 | c.112 others(66): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNOT7_chr8_17219966_17251857 | 17221918 | AGAAGTCT others(42): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02922.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0052 | a0001c0001t0010g0008 a0001c0001t0052g0188 |
3 | 406 | 0.0074 | -49 | c.*87 others(60): Show |
CNOT7 | ENSG00000198791.12 | transcript | ENST00000361272.9 | protein_coding | 3047 | chr8 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146121069 | TCTTCTAG others(42): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0002 | 1 | 40 | 0.0250 | -49 | c.97+ others(64): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147575190 | GTGTGTGT others(42): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02451.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0001g0003 a0001c0001t0006g0009 a0001c0001t0007g0018 others(12): Show |
15 | 40 | 0.3750 | -49 | c.189 others(70): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522686 | CCTTTCTT others(42): Show |
C | intron_variant | MODIFIER | HG03486.hp2 HG03491.hp2 HG04228.hp2 |
a0002a0008a0009 | a0002c0005a0008c0017a0009c0044 | a0002c0005t0002a0008c0017t0002a0009c0044t0006 | a0002c0005t0002g0257 a0008c0017t0002g0068 a0009c0044t0006g0247 |
3 | 143 | 0.0210 | -49 | c.275 others(66): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253342 | ATACATAT others(42): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG02451.hp2 others(3): Show |
a0002a0003a0004 | a0002c0015a0002c0018a0002c0043others(3): Show | a0002c0015t0001a0002c0018t0001a0002c0043t0001others(3): Show | a0002c0015t0001g0239 a0002c0018t0001g0222 a0002c0043t0001g0179 others(3): Show |
6 | 342 | 0.0175 | -49 | c.85- others(66): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45977795 | GAGGGAGG others(42): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 126 | 0.0079 | -49 | c.-40 others(60): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3974 | chr21 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3590488 | CCCCCCCC others(42): Show |
C | upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 370 | 0.0027 | -49 | c.-47 others(60): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4623 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3590664 | ACCCCCCC others(42): Show |
A | upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 161 | 0.0062 | -49 | c.-45 others(60): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4447 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3591047 | ACCTCCCG others(42): Show |
A | upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 376 | 0.0027 | -49 | c.-41 others(60): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4064 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3591095 | TCCCTCCC others(42): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00733.hp1 others(42): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0063 a0001c0001t0001g0284 others(40): Show |
45 | 376 | 0.1197 | -49 | c.-40 others(60): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4016 | chr2 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116160570 | AGATCTAA others(42): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 348 | 0.0029 | -49 | c.510 others(68): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD7_chr20_32697699_32748467 | 32730110 | AGCCTGAG others(42): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp1 HG03710.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0133 others(3): Show |
6 | 396 | 0.0152 | -49 | c.85- others(64): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
COMMD7_chr20_32697699_32748467 | 32730144 | ATCATGTC others(42): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0128 a0001c0001t0001g0142 others(13): Show |
22 | 398 | 0.0553 | -49 | c.85- others(64): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130591730 | GGGGGTCA others(42): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 324 | 0.0031 | -49 | c.737 others(68): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | |||||||
CPLX3_chr15_74821627_74836802 | 74834452 | TAGAAGCA others(42): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 440 | 0.0023 | -49 | c.*40 others(60): Show |
CPLX3 | ENSG00000213578.6 | transcript | ENST00000395018.6 | protein_coding | 2651 | chr15 | TogoVar | |||||||
CPN2_chr3_194334768_194356328 | 194348162 | GCCCAGTT others(42): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 HG01891.hp1 others(22): Show |
a0001a0002a0004others(4): Show | a0001c0004a0001c0005a0002c0001others(6): Show | a0001c0004t0004a0001c0005t0006a0002c0001t0001others(7): Show | a0001c0004t0004g0029 a0001c0004t0004g0041 a0001c0004t0004g0064 others(14): Show |
25 | 438 | 0.0571 | -49 | c.-4+ others(64): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587875 | CCCGTGTC others(42): Show |
C | intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0303 | 1 | 336 | 0.0030 | -49 | c.927 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPXM2_chr10_123740639_123896807 | 123854367 | TATATATA others(42): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp2 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0001a0001c0008t0002 | a0001c0005t0001g0264 a0001c0008t0002g0233 |
2 | 286 | 0.0070 | -49 | c.513 others(66): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 3/13 | chr10 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4920883 | AAAGAAAA others(42): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0086 | 1 | 126 | 0.0079 | -49 | c.85+ others(66): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4920897 | AAAAGAAA others(42): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp2 NA18971.hp2 |
a0002a0005a0036 | a0002c0070a0005c0064a0036c0095 | a0002c0070t0046a0005c0064t0050a0036c0095t0002 | a0002c0070t0046g0092 a0005c0064t0050g0078 a0036c0095t0002g0124 |
3 | 101 | 0.0297 | -49 | c.85+ others(66): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34095513 | CAAGACTA others(42): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0030 | a0030c0033 | a0030c0033t0012 | a0030c0033t0012g0028 | 1 | 64 | 0.0156 | -49 | c.188 others(66): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542637 | TATGTATA others(42): Show |
T | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 384 | 0.0026 | -49 | c.230 others(66): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542641 | TATATATA others(42): Show |
T | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 387 | 0.0026 | -49 | c.230 others(66): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542643 | TATATATA others(42): Show |
T | intron_variant | MODIFIER | NA18973.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0087 |
2 | 388 | 0.0052 | -49 | c.230 others(66): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542644 | ATATATAT others(42): Show |
A | intron_variant | MODIFIER | HG00621.hp1 NA19000.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0061 |
3 | 351 | 0.0085 | -49 | c.230 others(66): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64277574 | AAATATAT others(42): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01261.hp1 HG01934.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 others(2): Show |
5 | 174 | 0.0287 | -49 | c.182 others(68): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64277608 | TAATATTG others(42): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02129.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0030others(1): Show | a0001c0001t0004g0125 a0001c0001t0008g0137 a0001c0001t0008g0138 others(5): Show |
8 | 174 | 0.0460 | -49 | c.182 others(68): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
CSNK2A1_chr20_467498_548790 | 490145 | CCTCAGCC others(42): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0071 | a0001c0001t0002g0219 a0001c0001t0002g0274 a0001c0001t0002g0275 others(1): Show |
4 | 314 | 0.0127 | -49 | c.622 others(64): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 9/13 | chr20 | TogoVar | |||||||
CSTPP1_chr11_46931761_47167247 | 47097071 | CGGCCAGC others(42): Show |
C | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 222 | 0.0045 | -49 | c.281 others(68): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47097248 | GGCCAGCC others(42): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0046 others(2): Show |
5 | 222 | 0.0225 | -49 | c.281 others(68): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79742143 | AGGTGGAG others(42): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0014others(2): Show | a0001c0001t0006a0001c0001t0007a0001c0007t0003others(3): Show | a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 others(6): Show |
9 | 375 | 0.0240 | -49 | c.274 others(68): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
CTNNA1_chr5_138748425_138940034 | 138776875 | GCGGGGCG others(42): Show |
G | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0081 | 1 | 178 | 0.0056 | -49 | c.-2- others(64): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CTNNA1_chr5_138748425_138940034 | 138776905 | CCCCCCAC others(42): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02895.hp1 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0026 a0001c0002t0005g0050 a0001c0002t0005g0068 |
3 | 178 | 0.0169 | -49 | c.-2- others(64): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67692035 | TGCCCGGC others(42): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 46 | 0.0217 | -49 | c.-6+ others(64): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
CTNNBL1_chr20_37689030_37877118 | 37718385 | GGGACGGG others(42): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 264 | 0.0038 | -49 | c.31- others(66): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CTNNBL1_chr20_37689030_37877118 | 37718394 | CGGCTGGC others(42): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 264 | 0.0038 | -49 | c.31- others(66): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150728583 | CCCCCCCC others(42): Show |
C | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 340 | 0.0029 | -49 | c.*44 others(60): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 1604 | chr1 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150744092 | TACATAAT others(42): Show |
T | intron_variant | MODIFIER | HG03098.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 2 | 342 | 0.0058 | -49 | c.896 others(66): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CTTNBP2NL_chr1_112391214_112466164 | 112423597 | GTGTCTCA others(42): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG02040.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0020 | a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 others(5): Show |
8 | 322 | 0.0248 | -49 | c.99+ others(64): Show |
CTTNBP2NL | ENSG00000143079.15 | transcript | ENST00000271277.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CYFIP1_chr15_22862052_22985368 | 22949227 | CCGGGGAC others(42): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02083.hp1 NA18939.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0003 | a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0002t0001g0171 others(1): Show |
4 | 340 | 0.0118 | -49 | c.-6- others(64): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22949262 | TGCCTAAG others(42): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(133): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0035 others(133): Show |
136 | 340 | 0.4000 | -49 | c.-6- others(64): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | |||||||
CYP1A1_chr15_74714542_74730528 | 74729118 | AGGCCAGC others(42): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp2 HG03195.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 |
4 | 432 | 0.0093 | -49 | c.-37 others(60): Show |
CYP1A1 | ENSG00000140465.15 | transcript | ENST00000379727.8 | protein_coding | 3591 | chr15 | TogoVar | |||||||
CYP1A1_chr15_74714542_74730528 | 74729131 | CGTCCGGG others(42): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01255.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 432 | 0.0231 | -49 | c.-37 others(60): Show |
CYP1A1 | ENSG00000140465.15 | transcript | ENST00000379727.8 | protein_coding | 3604 | chr15 | TogoVar | |||||||
CYP7B1_chr8_64585851_64803737 | 64685837 | TCCCCCGC others(42): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 256 | 0.0039 | -49 | c.123 others(68): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
CYP7B1_chr8_64585851_64803737 | 64685846 | CGGCCAGC others(42): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01106.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(42): Show |
45 | 256 | 0.1758 | -49 | c.123 others(68): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
CYP7B1_chr8_64585851_64803737 | 64685860 | ATCCGGGA others(42): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01069.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0005a0003c0004t0001 | a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 others(8): Show |
11 | 255 | 0.0431 | -49 | c.123 others(68): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 1/5 | chr8 | TogoVar |