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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(916): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 331 | 0.0030 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(916): Show |
intron_variant | MODIFIER | NA18990.hp2 NA18999.hp2 NA19004.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 others(2): Show |
5 | 335 | 0.0149 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(916): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 331 | 0.0030 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(916): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp1 others(31): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0137 a0001c0001t0001g0184 a0001c0001t0001g0189 others(31): Show |
34 | 364 | 0.0934 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(916): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 331 | 0.0030 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739088 | C | CCTCATCC others(916): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0377 | 1 | 302 | 0.0033 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KRTAP4-5_chr17_41143924_41154825 | 41144155 | C | CTTTTTTC others(916): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 400 | 0.0025 | 923 | c.*50 others(934): Show |
KRTAP4-5 | ENSG00000198271.5 | transcript | ENST00000343246.6 | protein_coding | 4768 | chr17 | TogoVar | |||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(916): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG03486.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0057 a0001c0001t0019g0178 |
3 | 393 | 0.0076 | 923 | c.-28 others(934): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | |||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(916): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG02976.hp2 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0008a0002c0003t0014 | a0002c0003t0008g0021 a0002c0003t0008g0176 a0002c0003t0014g0030 others(1): Show |
9 | 399 | 0.0226 | 923 | c.-28 others(934): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | |||||||
MGRN1_chr16_4619826_4695972 | 4648769 | C | CGGGGGCT others(916): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 | 1 | 327 | 0.0031 | 923 | c.89- others(938): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532188 | T | TCGGCAGA others(916): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0018 | a0001c0018t0053 | a0001c0018t0053g0059 | 1 | 235 | 0.0043 | 923 | c.*46 others(934): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2866 | chr18 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133082514 | C | CTCCCCTC others(916): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0010 | 1 | 46 | 0.0217 | 923 | c.62- others(942): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45924018 | C | CGAGGAGA others(916): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 168 | 0.0060 | 923 | c.718 others(940): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(916): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0163 | 1 | 70 | 0.0143 | 923 | c.438 others(942): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(916): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 NA18612.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0005others(3): Show | a0001c0001t0001g0175 a0001c0001t0002g0012 a0001c0002t0005g0141 others(3): Show |
6 | 75 | 0.0800 | 923 | c.438 others(942): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492477 | C | CCCAGAGC others(916): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0205 | 1 | 188 | 0.0053 | 923 | c.126 others(942): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(916): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 195 | 0.0051 | 923 | c.347 others(938): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(916): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 133 | 0.0075 | 923 | c.389 others(944): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(916): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0003g0068 |
2 | 120 | 0.0167 | 923 | c.389 others(944): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(916): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0010 | a0002c0010t0006 | a0002c0010t0006g0068 | 1 | 42 | 0.0238 | 923 | c.916 others(940): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4083740 | C | CCTTTACT others(916): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01934.hp2 NA18522.hp2 |
a0005a0031 | a0005c0055a0005c0056a0031c0069 | a0005c0055t0055a0005c0056t0006a0031c0069t0069 | a0005c0055t0055g0021 a0005c0056t0006g0097 a0031c0069t0069g0064 |
3 | 115 | 0.0261 | 923 | c.332 others(942): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(916): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 80 | 0.0125 | 923 | c.*64 others(934): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(916): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0171 | 1 | 3 | 0.3333 | 923 | c.597 others(940): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(916): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 98 | 0.0102 | 923 | c.41- others(940): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(916): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0193 | 1 | 341 | 0.0029 | 923 | c.-6- others(938): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(916): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0127 | 1 | 341 | 0.0029 | 923 | c.-6- others(938): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(916): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0153 | 1 | 341 | 0.0029 | 923 | c.-6- others(938): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(916): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0156 | 1 | 341 | 0.0029 | 923 | c.-6- others(938): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(916): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19064.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0113 a0002c0002t0003g0151 |
2 | 342 | 0.0058 | 923 | c.-6- others(938): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(917): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 201 | 0.0050 | 924 | c.130 others(943): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATATATTT others(917): Show |
intron_variant | MODIFIER | HG02523.hp1 NA19084.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0215 a0001c0005t0001g0218 |
2 | 161 | 0.0124 | 924 | c.130 others(943): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(917): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG02897.hp1 |
a0002a0007a0016 | a0002c0012a0007c0011a0016c0071 | a0002c0012t0001a0007c0011t0001a0016c0071t0001 | a0002c0012t0001g0082 a0007c0011t0001g0087 a0016c0071t0001g0356 |
3 | 295 | 0.0102 | 924 | c.170 others(945): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(917): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02895.hp1 HG03453.hp2 others(1): Show |
a0002a0016a0019 | a0002c0012a0002c0035a0016c0036others(1): Show | a0002c0012t0001a0002c0035t0005a0016c0036t0001others(1): Show | a0002c0012t0001g0092 a0002c0035t0005g0093 a0016c0036t0001g0079 others(1): Show |
4 | 296 | 0.0135 | 924 | c.170 others(945): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111555 | G | GGGCACCT others(917): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0033 | 1 | 254 | 0.0039 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111597 | G | GGGCACCT others(917): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0326 | 1 | 280 | 0.0036 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111709 | C | CACCTGCC others(917): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0236 | 1 | 299 | 0.0033 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111828 | A | ACCAGACC others(917): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0347 | 1 | 233 | 0.0043 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111877 | C | CACCTGCC others(917): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 | 1 | 317 | 0.0032 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111961 | C | CACCTGCC others(917): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0219 | 1 | 304 | 0.0033 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(917): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 10 | 0.1000 | 924 | c.*10 others(937): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(917): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 HG02738.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 12 | 0.2500 | 924 | c.*10 others(937): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(917): Show |
downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 10 | 0.1000 | 924 | c.*10 others(937): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(917): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0000 | 1 | 10 | 0.1000 | 924 | c.*10 others(937): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(917): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01168.hp2 HG01169.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 14 | 0.3571 | 924 | c.*10 others(937): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(917): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 10 | 0.1000 | 924 | c.*10 others(937): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(917): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0005 | 1 | 76 | 0.0132 | 924 | c.955 others(941): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293336 | T | TCACCTTC others(917): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0282 | 1 | 248 | 0.0040 | 924 | c.411 others(941): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914031 | C | TGAGGCTG others(917): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0028 | a0028c0058 | a0028c0058t0001 | a0028c0058t0001g0208 | 1 | 205 | 0.0049 | 924 | c.212 others(941): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(917): Show |
intron_variant | MODIFIER | HG02735.hp2 HG04204.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0062 a0003c0005t0002g0070 |
2 | 212 | 0.0094 | 924 | c.342 others(945): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89647943 | G | GACCCAGT others(917): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 374 | 0.0027 | 924 | c.253 others(939): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar |