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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF1_chr11_47460937_47558132 | 47481081 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0119 a0001c0001t0007g0211 |
2 | 329 | 0.0061 | -23 | c.768 others(40): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 9/14 | chr11 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37416355 | CAGCTCCT others(16): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0112 a0001c0001t0008g0136 a0001c0001t0008g0137 |
3 | 182 | 0.0165 | -23 | c.369 others(42): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71745872 | AACTCTCA others(16): Show |
A | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0212 | 1 | 318 | 0.0031 | -23 | c.472 others(38): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 3/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT others(16): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01257.hp2 HG01258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001 | a0001c0001t0001g0236 a0001c0001t0011g0237 a0001c0002t0001g0172 others(1): Show |
4 | 5 | 0.8000 | -23 | c.-17 others(44): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CENPF_chr1_214598195_214669571 | 214616831 | CTTCCTCT others(16): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0011 | a0011c0014 | a0011c0014t0002 | a0011c0014t0002g0033 | 1 | 280 | 0.0036 | -23 | c.360 others(40): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92602737 | GCAACACA others(16): Show |
G | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0102 | 1 | 260 | 0.0038 | -23 | c.565 others(40): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3824854 | AGGCAGTG others(16): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 354 | 0.0028 | -23 | c.236 others(40): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65679129 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0027 | 1 | 5 | 0.2000 | -23 | c.269 others(42): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101911094 | CTTTTTTT others(16): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG02602.hp1 HG02698.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0033a0001c0009t0055 | a0001c0001t0001g0089 a0001c0001t0033g0175 a0001c0001t0033g0237 others(1): Show |
4 | 10 | 0.4000 | -23 | c.-41 others(34): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101999219 | TTCAATGG others(16): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0292 | 1 | 336 | 0.0030 | -23 | c.*15 others(34): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 11/11 | 1577 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80946308 | TTGATGCC others(16): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01081.hp2 others(64): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0019a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 others(64): Show |
67 | 136 | 0.4926 | -23 | c.-49 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4571 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81205491 | AGGGGAGG others(16): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(140): Show |
a0001a0002a0006others(8): Show | a0001c0001a0001c0004a0001c0012others(15): Show | a0001c0001t0001a0001c0004t0001a0001c0012t0001others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(117): Show |
143 | 382 | 0.3743 | -23 | c.515 others(40): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 5/25 | chr17 | TogoVar | |||||||
CEP57L1_chr6_109090507_109179418 | 109172165 | TAGACAGA others(16): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0007a0002c0002a0003c0005others(1): Show | a0001c0007t0027a0002c0002t0002a0002c0002t0023others(24): Show | a0001c0007t0027g0005 a0002c0002t0002g0001 a0002c0002t0002g0013 others(37): Show |
43 | 226 | 0.1903 | -23 | c.*92 others(34): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 11/11 | 9220 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP83_chr12_94302698_94464867 | 94355607 | TCTGGCCA others(16): Show |
T | intron_variant | MODIFIER | HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0032 others(1): Show |
4 | 362 | 0.0110 | -23 | c.134 others(44): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168698236 | GAAAAAAA others(16): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(85): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0035 others(85): Show |
88 | 155 | 0.5677 | -23 | c.609 others(40): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CETN1_chr18_575380_587114 | 587017 | ATCTTGGC others(16): Show |
A | downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 420 | 0.0024 | -23 | c.*60 others(34): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 4904 | chr18 | TogoVar | |||||||
CFAP100_chr3_126389909_126441556 | 126437353 | TTGAATGA others(16): Show |
T | downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 420 | 0.0024 | -23 | c.*95 others(32): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 798 | chr3 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81133204 | TATATATA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02630.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0284 a0001c0001t0002g0012 a0001c0001t0002g0280 others(1): Show |
7 | 446 | 0.0157 | -23 | c.-11 others(34): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1065 | chr15 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81139713 | TTCCCCTC others(16): Show |
T | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 446 | 0.0022 | -23 | c.477 others(40): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 4/6 | chr15 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104217330 | CTTTTCTT others(16): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01081.hp2 HG01109.hp2 others(52): Show |
a0001a0008a0010others(2): Show | a0001c0001a0001c0007a0001c0018others(6): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(51): Show |
55 | 304 | 0.1809 | -23 | c.417 others(40): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132825199 | CTGTGTGC others(16): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show |
a0011a0018a0030others(3): Show | a0011c0010a0018c0020a0030c0056others(3): Show | a0011c0010t0001a0018c0020t0001a0030c0056t0001others(3): Show | a0011c0010t0001g0186 a0011c0010t0001g0187 a0011c0010t0001g0193 others(7): Show |
10 | 243 | 0.0412 | -23 | c.711 others(42): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP52_chr17_9571642_9648447 | 9636192 | AAAGAAAG others(16): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 252 | 0.0040 | -23 | c.147 others(40): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96724290 | CAACAGTG others(16): Show |
C | intron_variant | MODIFIER | HG03139.hp2 NA19240.hp1 |
a0048a0060 | a0048c0037a0060c0061 | a0048c0037t0001a0060c0061t0001 | a0048c0037t0001g0165 a0060c0061t0001g0039 |
2 | 266 | 0.0075 | -23 | c.696 others(42): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 50/67 | chr12 | TogoVar | |||||||
CFAP58_chr10_104348833_104460102 | 104396416 | GAGAGAGA others(16): Show |
G | intron_variant | MODIFIER | NA18953.hp1 NA18965.hp1 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0097 a0002c0002t0001g0083 a0002c0002t0001g0194 |
3 | 306 | 0.0098 | -23 | c.167 others(42): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104438351 | TTTTTTTT others(16): Show |
T | intron_variant | MODIFIER | NA18946.hp1 NA18961.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0152 a0001c0003t0002g0213 |
2 | 297 | 0.0067 | -23 | c.225 others(42): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20357215 | TGAGGGGA others(16): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 a0002c0002t0001g0023 |
2 | 234 | 0.0085 | -23 | c.351 others(42): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20357523 | GGTCATAC others(16): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0009 | 1 | 234 | 0.0043 | -23 | c.351 others(42): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111887975 | AAGTATCT others(16): Show |
A | downstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 390 | 0.0026 | -23 | c.*40 others(34): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 2001 | chr11 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90264105 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0243 | 1 | 218 | 0.0046 | -23 | c.357 others(40): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | chr7 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69843506 | CCTCCTCC others(16): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 338 | 0.0030 | -23 | c.153 others(39): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73426288 | AAATAAAA others(16): Show |
A | intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0152 | 1 | 408 | 0.0025 | -23 | c.121 others(40): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
CGA_chr6_87080498_87100106 | 87094078 | CAGAAACT others(16): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(177): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0022 others(63): Show |
180 | 418 | 0.4306 | -23 | c.-8+ others(36): Show |
CGA | ENSG00000135346.9 | transcript | ENST00000627148.3 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116900 | TCTCTCTC others(16): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0120 | 1 | 350 | 0.0029 | -23 | c.-12 others(40): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGRRF1_chr14_54504906_54544292 | 54539848 | AAAGCTGC others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 336 | 0.0030 | -23 | c.*14 others(34): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 557 | chr14 | TogoVar | |||||||
CHAF1B_chr21_36380392_36424015 | 36401574 | TTTTTATA others(16): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01167.hp2 others(26): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0025 a0001c0001t0001g0303 a0001c0001t0003g0021 others(26): Show |
29 | 343 | 0.0845 | -23 | c.664 others(40): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132943990 | TTTCAAGA others(16): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 308 | 0.0032 | -23 | c.369 others(42): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126861821 | CCCCTTCC others(16): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 214 | 0.0047 | -23 | c.495 others(40): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126862127 | CCTCCCCC others(16): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 214 | 0.0047 | -23 | c.495 others(40): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126862130 | CCCCCTCC others(16): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG02602.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0174 a0002c0002t0001g0077 |
2 | 210 | 0.0095 | -23 | c.495 others(40): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126862151 | CCTCCCCC others(16): Show |
C | intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 213 | 0.0047 | -23 | c.495 others(40): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607667 | CCCCAACA others(16): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0268 a0001c0002t0004g0052 |
2 | 331 | 0.0060 | -23 | c.-46 others(32): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 289 | chr12 | TogoVar | |||||||
CHD5_chr1_6096787_6185321 | 6175349 | GTGGATGG others(16): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01109.hp1 others(60): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(41): Show | a0001c0001t0003g0252 a0001c0001t0004g0239 a0001c0001t0004g0283 others(60): Show |
63 | 317 | 0.1987 | -23 | c.79+ others(38): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 1/41 | chr1 | TogoVar | |||||||
CHD5_chr1_6096787_6185321 | 6175501 | AATGGTGG others(16): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0001c0041a0002c0047 | a0001c0001t0003a0001c0041t0013a0002c0047t0074 | a0001c0001t0003g0252 a0001c0041t0013g0251 a0002c0047t0074g0314 |
3 | 318 | 0.0094 | -23 | c.79+ others(38): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 1/41 | chr1 | TogoVar | |||||||
CHEK1_chr11_125620163_125662147 | 125630899 | CCATGTCA others(16): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02145.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0005g0009 a0001c0001t0005g0045 a0001c0001t0005g0046 others(10): Show |
19 | 382 | 0.0497 | -23 | c.424 others(40): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5926069 | ATATATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG03098.hp2 NA18966.hp2 others(1): Show |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0002a0006c0006t0002 | a0003c0003t0002g0085 a0006c0006t0002g0008 |
4 | 312 | 0.0128 | -23 | c.*10 others(34): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 717 | chr20 | TogoVar | |||||||
CHI3L2_chr1_111222713_111248440 | 111227440 | GATACCAG others(16): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0120 | 1 | 432 | 0.0023 | -23 | c.-28 others(32): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 272 | chr1 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913333 | AAAGAAAG others(16): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0050 | 1 | 241 | 0.0041 | -23 | c.116 others(42): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174955196 | ATATAATT others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0037 others(144): Show |
147 | 267 | 0.5506 | -23 | c.20- others(38): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29273358 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0155 | 1 | 230 | 0.0043 | -23 | c.49+ others(40): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29482797 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0007 | a0001c0001t0012g0132 a0001c0002t0007g0149 |
2 | 8 | 0.2500 | -23 | c.654 others(40): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |