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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMK1D_chr10_12344547_12840545 | 12691368 | TATATATA others(44): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0056a0001c0001t0064a0001c0001t0084others(2): Show | a0001c0001t0056g0154a0001c0001t0064g0105a0001c0001t0084g0119others(2): Show | 5 | 214 | 0.0234 | -51 | c.299 others(70): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691371 | ATATATAA others(44): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG03490.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0034a0001c0002t0060 | a0001c0001t0002g0172a0001c0001t0034g0083a0001c0002t0060g0104 | 3 | 214 | 0.0140 | -51 | c.299 others(70): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223748661 | GGCCCTCT others(44): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02630.hp2 others(1): Show |
a0001a0005 | a0001c0020a0005c0021a0005c0039 | a0001c0020t0001a0005c0021t0001a0005c0021t0003others(1): Show | a0001c0020t0001g0297a0005c0021t0001g0133a0005c0021t0003g0148others(1): Show | 4 | 378 | 0.0106 | -51 | c.730 others(66): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230743868 | AAGGGAGT others(44): Show |
A | upstream_gene_variant | MODIFIER | HG02897.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0091 | 1 | 394 | 0.0025 | -51 | c.-36 others(62): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 3519 | chr1 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116890524 | AAATATAT others(44): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0103 | 1 | 354 | 0.0028 | -51 | c.103 others(68): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CARD8_chr19_48203086_48260912 | 48258699 | GTTCACCT others(44): Show |
G | upstream_gene_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0017 | 1 | 362 | 0.0028 | -51 | c.-32 others(62): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 2788 | chr19 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555505 | AAAGAAAG others(44): Show |
A | intron_variant | MODIFIER | HG02148.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199a0001c0001t0002g0322 | 2 | 342 | 0.0059 | -51 | c.196 others(68): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC102B_chr18_68793080_69060189 | 68956466 | TATATATT others(44): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0020 | a0020c0033 | a0020c0033t0001 | a0020c0033t0001g0074 | 1 | 216 | 0.0046 | -51 | c.126 others(72): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC126_chr7_23592382_23649708 | 23637221 | GCCCGGCC others(44): Show |
G | intron_variant | MODIFIER | HG03195.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0329a0001c0001t0007g0359 | 2 | 380 | 0.0053 | -51 | c.239 others(68): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC126_chr7_23592382_23649708 | 23637229 | GGCCGCCC others(44): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022 | a0001c0001t0006g0189a0001c0001t0006g0190a0001c0001t0006g0191others(2): Show | 5 | 380 | 0.0132 | -51 | c.239 others(68): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC138_chr2_108781771_108881578 | 108846281 | TTTAAGTT others(44): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0140 | 1 | 220 | 0.0046 | -51 | c.132 others(68): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC47_chr17_63740255_63778597 | 63759509 | ATATATAT others(44): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 | 1 | 352 | 0.0028 | -51 | c.735 others(68): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
CCDC60_chr12_119329729_119546040 | 119507559 | TATATATA others(44): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0016 | a0016c0017 | a0016c0017t0009 | a0016c0017t0009g0144 | 1 | 256 | 0.0039 | -51 | c.883 others(68): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 7/13 | chr12 | TogoVar | ||||||
CCDC63_chr12_110841987_110912535 | 110867100 | CGGGGCGG others(44): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 288 | 0.0035 | -51 | c.370 others(68): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882240 | GGTAGTAA others(44): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0113 | 1 | 288 | 0.0035 | -51 | c.303 others(70): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCN2_chr6_131943176_131956372 | 131954010 | GGTTAGAT others(44): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -51 | c.-28 others(62): Show |
CCN2 | ENSG00000118523.6 | transcript | ENST00000367976.4 | protein_coding | 2639 | chr6 | TogoVar | ||||||
CCP110_chr16_19518942_19558408 | 19528869 | TACAGAGA others(44): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0004 | a0004c0006 | a0004c0006t0011 | a0004c0006t0011g0165 | 1 | 386 | 0.0026 | -51 | c.141 others(66): Show |
CCP110 | ENSG00000103540.17 | transcript | ENST00000694978.1 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CD200_chr3_112328156_112367812 | 112342305 | CCTTTCTT others(44): Show |
C | intron_variant | MODIFIER | NA18957.hp2 NA19004.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 408 | 0.0074 | -51 | c.94+ others(66): Show |
CD200 | ENSG00000091972.18 | transcript | ENST00000315711.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CD200_chr3_112328156_112367812 | 112342313 | CTTTCTTT others(44): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01928.hp2 HG01934.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0219a0001c0001t0001g0220others(13): Show | 18 | 408 | 0.0441 | -51 | c.94+ others(66): Show |
CD200 | ENSG00000091972.18 | transcript | ENST00000315711.12 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
CD81_chr11_2372310_2402397 | 2384502 | GGGTGGGG others(44): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 388 | 0.0026 | -51 | c.67- others(66): Show |
CD81 | ENSG00000110651.13 | transcript | ENST00000263645.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CDC42BPB_chr14_102927380_103062549 | 102985245 | GTGGAGGT others(44): Show |
G | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0268 | 1 | 320 | 0.0031 | -51 | c.690 others(68): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 6/36 | chr14 | TogoVar | ||||||
CDH3_chr16_68640310_68705292 | 68683655 | AAAAAAAA others(44): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(159): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0005a0001c0006others(14): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0008others(26): Show | a0001c0003t0001g0038a0001c0003t0001g0069a0001c0003t0001g0070others(156): Show | 162 | 338 | 0.4793 | -51 | c.118 others(68): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61309356 | CGAGTTTC others(44): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00639.hp2 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(45): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0032others(60): Show | 63 | 106 | 0.5943 | -51 | c.169 others(70): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61856592 | CTAGAATC others(44): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02040.hp1 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0002a0001c0001t0040a0002c0002t0004others(4): Show | a0001c0001t0002g0060a0001c0001t0002g0076a0001c0001t0040g0055others(5): Show | 8 | 106 | 0.0755 | -51 | c.877 others(68): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 6/15 | chr20 | TogoVar | ||||||
CDK11A_chr1_1697379_1729357 | 1717604 | CGCTTTCA others(44): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0035a0001c0036others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(178): Show | 286 | 372 | 0.7688 | -51 | c.356 others(68): Show |
CDK11A | ENSG00000008128.23 | transcript | ENST00000404249.8 | protein_coding | 4/19 | chr1 | TogoVar | ||||||
CDK11A_chr1_1697379_1729357 | 1718452 | CACACGCA others(44): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 372 | 0.0027 | -51 | c.355 others(66): Show |
CDK11A | ENSG00000008128.23 | transcript | ENST00000404249.8 | protein_coding | 4/19 | chr1 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532525 | GGAAAGAA others(44): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01081.hp1 NA18949.hp2 others(4): Show |
a0002a0003a0004 | a0002c0002a0003c0004a0004c0003 | a0002c0002t0001a0003c0004t0001a0004c0003t0001 | a0002c0002t0001g0280a0003c0004t0001g0006a0003c0004t0001g0020others(4): Show | 7 | 438 | 0.0160 | -51 | c.-30 others(62): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2851 | chr19 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214616888 | TCTTTCTT others(44): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0216 | 1 | 282 | 0.0036 | -51 | c.360 others(68): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104884691 | GGGGGGTG others(44): Show |
G | intron_variant | MODIFIER | HG02698.hp1 HG03654.hp1 HG04199.hp2 others(1): Show |
a0001a0002a0008 | a0001c0082a0002c0028a0002c0064others(1): Show | a0001c0082t0002a0002c0028t0002a0002c0064t0002others(1): Show | a0001c0082t0002g0200a0002c0028t0002g0206a0002c0064t0002g0171others(1): Show | 4 | 328 | 0.0122 | -51 | c.177 others(68): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104884813 | GGGGGTGG others(44): Show |
G | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0192 | 1 | 328 | 0.0031 | -51 | c.177 others(68): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80800506 | ATATAATA others(44): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0047 | 1 | 96 | 0.0104 | -51 | c.334 others(70): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP46_chr10_132803392_132947570 | 132912172 | CCTCCTCT others(44): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0051 | a0051c0105 | a0051c0105t0001 | a0051c0105t0001g0239 | 1 | 246 | 0.0041 | -51 | c.249 others(68): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 19/57 | chr10 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128955109 | CGCCCGGC others(44): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 342 | 0.0029 | -51 | c.135 others(70): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843542 | CCTCCTCC others(44): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02970.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0153a0001c0001t0001g0156 | 3 | 380 | 0.0079 | -51 | c.153 others(66): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843551 | CCTCCTCC others(44): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0370 | 1 | 380 | 0.0026 | -51 | c.153 others(66): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97D2_chr13_114174257_114228085 | 114219130 | TGACAAAG others(44): Show |
T | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0241 | 1 | 400 | 0.0025 | -51 | c.291 others(68): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
CFD_chr19_854664_868641 | 866515 | ACCAGTGC others(44): Show |
A | downstream_gene_variant | MODIFIER | NA18995.hp2 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0010 | 2 | 287 | 0.0070 | -51 | c.*32 others(62): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2875 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 866520 | TGCTCCCA others(44): Show |
T | downstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0005g0001 | 3 | 287 | 0.0105 | -51 | c.*32 others(62): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2880 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 866580 | CTCCTCCC others(44): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp1 others(127): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(50): Show | 130 | 287 | 0.4530 | -51 | c.*33 others(62): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2940 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 866682 | GTCCTCCC others(44): Show |
G | downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 287 | 0.0035 | -51 | c.*34 others(62): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3042 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 866733 | CTCCTCCC others(44): Show |
C | downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 287 | 0.0035 | -51 | c.*34 others(62): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3093 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 866848 | GCCCACTG others(44): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00673.hp1 others(57): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(33): Show | 60 | 287 | 0.2091 | -51 | c.*36 others(62): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3208 | chr19 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27101385 | GGCCTCTG others(44): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(308): Show | 338 | 352 | 0.9602 | -51 | c.795 others(58): Show |
p.Glu others(13): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 6/6 | 1139/1931 | 795/957 | 265/318 | chr2 | TogoVar | ||
CHCHD6_chr3_126699240_126965420 | 126865101 | ACCACCAC others(44): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02015.hp2 HG02055.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0001 | a0002c0002t0001g0027a0002c0002t0001g0047a0002c0002t0001g0049others(3): Show | 6 | 216 | 0.0278 | -51 | c.495 others(70): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126865136 | CACCACCA others(44): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 | 1 | 216 | 0.0046 | -51 | c.495 others(70): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHDH_chr3_53807335_53851419 | 53849855 | ACTATATG others(44): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0164 | a0002c0002t0164g0328 | 1 | 392 | 0.0026 | -51 | c.-39 others(62): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 3437 | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 288378 | CAATGTAC others(44): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0103 | 1 | 290 | 0.0035 | -51 | c.-94 others(70): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104475666 | ATATATAT others(44): Show |
A | intron_variant | MODIFIER | HG02145.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0122a0001c0001t0027g0121 | 2 | 240 | 0.0083 | -51 | c.118 others(70): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33618397 | GTCTTCTT others(44): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 254 | 0.0039 | -51 | c.-40 others(62): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3555 | chr19 | TogoVar | ||||||
CLDN8_chr21_30209006_30221097 | 30210361 | TATATATA others(44): Show |
T | downstream_gene_variant | MODIFIER | NA18967.hp1 NA18974.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 2 | 466 | 0.0043 | -51 | c.*48 others(62): Show |
CLDN8 | ENSG00000156284.6 | transcript | ENST00000399899.2 | protein_coding | 3644 | chr21 | TogoVar |