Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NLRP2_chr19_54961374_55006138	54964828	ATAAAATA others(1089): Show ATAAAATAATAATAATACTGTGAATGTGAAACTGATGAACTTGGTGCTTT TCATGCGTCTCATAGTTGACGTGTCATTGATATTTCACTTGAAATACGGT TGGATTTTTATTAATAATATACCTGGGGTGATGGGAGAAGGTAGCCAATC ACAGCTGAGGCTTCTAAGCGGTGATTCTCAGCCTCGGCCGCAATCACAAT TATCTGGGACTCTCGAAAGAACTCCAGGGTCTGGGCAGTCCCAGTGTAAC CAATCAAGCAGAATCTCTAGGCGTTCGTGCTTTGAAATGAGGCTCCACAT AGGTAAGTTTAACAGGCAGTCAAGATGGAGGACCACAGGTGGAGATCGGG AAGCTCAGGTGAAGGACCGCCCCCCAACACCCCCCGCCCCCAAAAGACCT CTCAGTAATTCCGGTGGATACAGGAAGTGCTCAGCAACGATTACGCCCCG AGGGCCAATCACAGGGCTGCGGCCGAGAAAGAAGCCTTAATAGAGCTTTC TCAACCTGCAGCCCTCATCTCCGCCGGCGAGTAGGGCCAGGTGTTGGGAG GTGAGTAGCTCTCCGGCAGCTCTGCAACTTCATTTCTTTATTTCTCCATT CCACAGTTGGTAAAATTTCTCCTTTTATTTCATATATTTTTTTTCTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGC TGAGGCTGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAG CATGGCAAAACCCCGTCTCTATTGAAAAAAATACAAAAATTAACCAGGCG TTGTGGCGCATGCTTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGGGA ATCACTTGAAGCCGGCAGGCGGAGGCTGCGGGGAGCCGAGATCGTGCCGT TGCACTCCAGCCTGGGGAACAGAGCAAGACTCCATTAAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00544.hp1 others(109): Show HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03486.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG06807.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19091.hp1 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0009 a0018 a0019 a0028	a0001c0001 a0001c0004 a0001c0008 others(12): Show a0001c0001 a0001c0004 a0001c0008 a0001c0039 a0002c0012 a0002c0037 a0003c0005 a0003c0006 a0003c0018 a0003c0040 a0004c0014 a0009c0017 a0018c0066 a0019c0065 a0028c0038	a0001c0001t0002 a0001c0001t0013 a0001c0004t0002 others(15): Show a0001c0001t0002 a0001c0001t0013 a0001c0004t0002 a0001c0008t0002 a0001c0039t0002 a0002c0012t0002 a0002c0012t0004 a0002c0012t0005 a0002c0037t0005 a0003c0005t0002 a0003c0006t0002 a0003c0018t0002 a0003c0040t0002 a0004c0014t0005 a0009c0017t0002 a0018c0066t0002 a0019c0065t0002 a0028c0038t0002	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 others(109): Show a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0352 a0001c0001t0002g0428 a0001c0001t0013g0095 a0001c0001t0013g0096 a0001c0004t0002g0194 a0001c0008t0002g0003 a0001c0008t0002g0070 a0001c0008t0002g0075 a0001c0008t0002g0076 a0001c0008t0002g0081 a0001c0008t0002g0082 a0001c0008t0002g0084 a0001c0008t0002g0092 a0001c0008t0002g0112 a0001c0008t0002g0113 a0001c0008t0002g0128 a0001c0008t0002g0144 a0001c0008t0002g0145 a0001c0008t0002g0155 a0001c0008t0002g0191 a0001c0008t0002g0351 a0001c0039t0002g0071 a0002c0012t0002g0132 a0002c0012t0004g0078 a0002c0012t0004g0079 a0002c0012t0004g0116 a0002c0012t0004g0121 a0002c0012t0004g0124 a0002c0012t0004g0204 a0002c0012t0005g0154 a0002c0012t0005g0157 a0002c0012t0005g0198 a0002c0037t0005g0142 a0003c0005t0002g0120 a0003c0006t0002g0104 a0003c0006t0002g0105 a0003c0006t0002g0106 a0003c0006t0002g0107 a0003c0018t0002g0118 a0003c0018t0002g0140 a0003c0018t0002g0146 a0003c0040t0002g0201 a0004c0014t0005g0102 a0004c0014t0005g0103 a0004c0014t0005g0117 a0009c0017t0002g0087 a0009c0017t0002g0108 a0009c0017t0002g0125 a0018c0066t0002g0110 a0019c0065t0002g0100 a0028c0038t0002g0089	112	429	0.2611	-1096	c.-16 others(10): Show c.-1656_-561del	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding		1545		chr19	TogoVar
ZNF512B_chr20_63951704_63974930	63964828	CACCACTG others(1089): Show CACCACTGTTCCCCGACCTGGGACAAGCCCCCATACCTTTTCTTACCACT GTTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCT GACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGG GACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGGGACGAGC CCCCATACCTTTTCTCACCACTGTTCCTCCCCGACCTGGGACGAGCCCCC ATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTT TTCTCACCACTGTTCCCTGACCTGGAACGAGCCCCCATACCTTTTCTCAC CACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTT CCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGAC CTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGAC GAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCC CATACCTTTTCTCACCACTGTTCCCTGACCTGGGACGAGCCCCCATACCT TTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTA CCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGT TCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCT CCCCAACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCC GACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGG GACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACG AGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACGAGCC CCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCA TACCTTTTCTTACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTT TCTCACCACTGTTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01071.hp1 others(35): Show HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01346.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG02055.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02809.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0026 others(2): Show a0001c0003 a0001c0006 a0001c0026 a0001c0027 a0001c0029	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(8): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0018 a0001c0003t0021 a0001c0003t0023 a0001c0006t0002 a0001c0026t0001 a0001c0027t0001 a0001c0029t0001	a0001c0003t0001g0022 a0001c0003t0001g0041 a0001c0003t0001g0043 others(20): Show a0001c0003t0001g0022 a0001c0003t0001g0041 a0001c0003t0001g0043 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0128 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0167 a0001c0003t0002g0006 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0006g0129 a0001c0003t0006g0130 a0001c0003t0010g0042 a0001c0003t0018g0067 a0001c0003t0021g0068 a0001c0003t0023g0069 a0001c0006t0002g0007 a0001c0026t0001g0126 a0001c0027t0001g0127 a0001c0029t0001g0139	38	356	0.1067	-1096	c.103 others(17): Show c.1034+217_1035-113del	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
JAZF1_chr7_27825577_28185795	27989094	TAGACCAA others(1088): Show TAGACCAAAGGAACAGAACAGAGCCCTCAGAAATAATACCACACATCTAC AACCATCTGATCTTTGACAAACCTGACAAATACAAGAAATGGGGAAAGGA TTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAA AGCTGAAATTGGATCCCTTCCTTATACCTTATACAAAAATTAATTCAAGA TGGATTAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCTAGAAAG AAACCTAGGCAATAGCATTCAGGCCATAGGCATGGACAAGGACTTCATGA CTAAAACACCAAAAGCAATGGCAACAAAAGTCAAAAATGGGATCTAATTA AACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCGTCAGAGTGAACAGG CAACCTACAGAATGGGAGAAAATTTTTACAATCTACCCATCTGACAAAGG GCTAATATCCAGAATCTACAAAGAACTTAAACAAATTTACAAGAAAAAAA TCAAACAACCCTATCAAAAAGTGGGCAAAGTGTATGAACAGACGCTTCTC AAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCATCAT CACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGGTACCATCTC ACACCAGTTAGAATGGCAATCATCAAAAAGTCAGGAAACAACAGGTGCTG GAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTA AACTAGTTCAACCATTGTGGAAGACAGTGTGGCGATTCCTCAGGGATCTA GAACTAGAAATACCACTTGACCCAGCCATCCTATTACTGGGCATATACCC AAAGGTTTATAAATCATGCTGCTATAAAGACACATGCACATGTATGTTTA TTGTGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCA TCAGTGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATA CTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGTAGAGACATGGA TGAAGCTGGAAACCATCATTCTGAGCAAACTATTGCAAGGACAGAA	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	206	0.0049	-1095	c.188 others(17): Show c.188+1720_188+2814del	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
NLRP2_chr19_54961374_55006138	54964832	AATAATAA others(1088): Show AATAATAATAATACTGTGAATGTGAAACTGATGAACTTGGTGCTTTTCAT GCGTCTCATAGTTGACGTGTCATTGATATTTCACTTGAAATACGGTTGGA TTTTTATTAATAATATACCTGGGGTGATGGGAGAAGGTAGCCAATCACAG CTGAGGCTTCTAAGCGGTGATTCTCAGCCTCGGCCGCAATCACAATTATC TGGGACTCTCGAAAGAACTCCAGGGTCTGGGCAGTCCCAGTGTAACCAAT CAAGCAGAATCTCTAGGCGTTCGTGCTTTGAAATGAGGCTCCACATAGGT AAGTTTAACAGGCAGTCAAGATGGAGGACCACAGGTGGAGATCGGGAAGC TCAGGTGAAGGACCGCCCCCCAACACCCCCCGCCCCCAAAAGACCTCTCA GTAATTCCGGTGGATACAGGAAGTGCTCAGCAACGATTACGCCCCGAGGG CCAATCACAGGGCTGCGGCCGAGAAAGAAGCCTTAATAGAGCTTTCTCAA CCTGCAGCCCTCATCTCCGCCGGCGAGTAGGGCCAGGTGTTGGGAGGTGA GTAGCTCTCCGGCAGCTCTGCAACTTCATTTCTTTATTTCTCCATTCCAC AGTTGGTAAAATTTCTCCTTTTATTTCATATATTTTTTTTCTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCTGAG GCTGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAGCATG GCAAAACCCCGTCTCTATTGAAAAAAATACAAAAATTAACCAGGCGTTGT GGCGCATGCTTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGGGAATCA CTTGAAGCCGGCAGGCGGAGGCTGCGGGGAGCCGAGATCGTGCCGTTGCA CTCCAGCCTGGGGAACAGAGCAAGACTCCATTAAAAATAAAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0085 a0001c0008t0002g0085	1	429	0.0023	-1095	c.-16 others(10): Show c.-1652_-558del	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding		1541		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132148920	CCACACCC others(1088): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	294	0.0034	-1095	c.901 others(14): Show c.901+62_902-930del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149045	ACTCACAC others(1088): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	294	0.0034	-1095	c.901 others(15): Show c.901+194_902-798del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZNF311_chr6_28989788_29010315	28990319	GCTGGGAT others(1088): Show GCTGGGATTACAGGTGTGAGCCACCACGCCTGACCACCTTTATTGATTTT TGAATGCTAATCCAACTTCTCCATGCTAGAATAATCTTAACTTGTTCAAG ACATGTAATCTTTTAAAAAATGTATATTCCTGGATTCAGTTTGTTACTAT CTCAAGATTTTTCTCACTACATTCATGAATGATAATAGCCTGTAATTTTC TTTTTTAAAAAATTTCCTTGTGTTGTTTGTTTTTCCTCATCGTTCCCTAA TGGTTTGGTATTAAGGTTATACAGGCCTCATAAAATGAGTTTAACATTGG GATTATTTTCCCTTGCATGTTTAGTAGAATTAACTGGTGAAAACATCTGA CCCTTGAGTTTTCTTTCTGGGAATATATATTATAGGTTCTATTTAAATAA TTGGTATCAGACTATTCAGATCTTATATTTTTTTCCTGTACTAGTTTTAG AAACAAGAGTCTTCCTAAGGAAATATACCAGATGAACCTGGAAAATCTTT TCACCAGAAAGCAAGGAGGCTACTGAAGACTACTTTAGTCATGTTAAACA AAAAAGGCTTGTGCTGACACCTATGAAGTAGTCTTACCCAAATCAAATCT AAATATAGAATTTGATAAAGCCCTTAGATCTAACTATTAATTTTTAGGAC ATGCAGGGGCAGAGGAATGTGTTAAATACTACCAAAGGTGTGCAATAATT AAAATCCAAACTGTGAAACTCTGCAGCACCAGCAACCTAGTTAATCATTA AATAAATTTCAAGAAAAAAGAGATATAGGGAGAACTTATATATTAAAATA CTTAAGATACATACCAACTAATCACAATGTATTGACCTTATTTGAATACT TTTTTTTTTTTTTTTCTGAGACAGTGTCTCACTCTGTCACCCAGGCTGGA GTGTGGTGGCACAATCACGGCTCACTGCAGCTTTGACCTCCCAAGCTCGT CTCCCGAGTAGCTGGGACCACAGTCATGCACCACCATGCCTGGCTAATTT TTGAATTTTTTGTAGAGACAGGGTCTTGCTATGTTGCCCAGGCTGGTCTT GAACTCCTGAGCCCAAGTGATCTTCTTGCCTTGGCCTCCCAAAGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02602.hp1 HG02818.hp2 HG01255.hp1 HG02602.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0067 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0067	3	417	0.0072	-1095	c.35 others(11): Show c.3587_*4681del	ZNF311	ENSG00000197935.7	transcript	ENST00000377179.4	protein_coding		4468		chr6	TogoVar
DGKB_chr7_14140049_14907751	14211286	ACTATGTG others(1087): Show ACTATGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCG TGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTC ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTT TACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTC ATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTT GTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTT TACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCG TGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTC ATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTT GTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCA TGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA19081.hp1 HG01952.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0129 a0001c0001t0002g0106 a0001c0001t0001g0129 a0001c0001t0002g0106	2	148	0.0135	-1094	c.212 others(21): Show c.2123-34229_2123-33136del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
ILKAP_chr2_238165402_238208695	238179491	TCCCTGAT others(1087): Show TCCCTGATGAAATAATGATTTAGGGATGCTAAGACCATTAGGTGAAAGGC TGACAGGAAACAGAATATTCACAAGGTACCAGTGAACCTCCCCAGATTAC CTGCTGATGACGCAAGGCAACAGGAGCATCCGGCTGTCACCACCGGAGCC AAGTGCTGGGATTTGGCAACTTAATTAAGGGTCACATTATGTGCCTACTG AAGTGAAGGACTACTGAGTATACAGCATCCCCCATAAAACATTGCTAAAA ACATCTCATCTGAATCTAAAGAAGGTCTTACACCTAACTTCCAGTTTATA GGAAATATACAGAAATAACACCGTAAAAAAATACGCAGGTTCAGAATATT GGTGACTCTGTACAACTGCTGGCCTATAACATGGTTCAAAGCCTGGTAAG AAATGAGTCTCGGCAGGGTGCAGTGGCTCACACCTGTATTCCCTGCACTC TGGGAGGCCAAGGCAGAAGGATCACTTAGCTCAGCCTGGAAAACACAGAC AGAGACCCTGTCTCTACCAAAAAATAAAAAAATAGCCAGGCACAGTGGCA CATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCTGGAGGATCGCTTC AACCTCAGAGGTCAAGGCTGCGGTGAGCTGTGATCGTGCCACTGCACTCC AGGCAACAGATCAAGATTCTCTCTCTCAAAAAAAAAAAAGAAAGAAAGAA AAAGAAAAAGAAAAAGAAATGCCAAGTCCACGGCAGACATGGATGCTGAC TAGACCCTGGTTTGAAACAAAGATACTTTGGGGATAACTCGGGAAATAAA AATATAGACAGGGTATTAGATAACTTAACCTAAGGAAATATTATTGTCTT AGGTGTGAAAATTCTCACTAATTATGTCAAGAACGTCCTTATCTTCAGGA GATGCATGCTTAAGTATTTAGGCTGTTATGTCATCATATCTGCAACTTTT AAACAGCTCAGCCTGACACACATCTATACAGACTAAACATGACACAATGT TCACTGCTAGTAGATTTGGAAATGTTTTACTATTGTCAAGTTTCTTCTGT ATGTCTGAAAAATTTAATGATAAAAGCTGAGAGTGGGGCAGCCAG	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	420	0.0024	-1094	c.836 others(17): Show c.836+1480_836+2573del	ILKAP	ENSG00000132323.9	transcript	ENST00000254654.8	protein_coding	9/11			chr2	TogoVar
PDE4B_chr1_65787895_66379574	66009671	AAACTTTC others(1087): Show AAACTTTCTCCAGATATCTGTATGGGCTTTTCTTTTCTTATTTCAGGTGG TGTCTTGAATTCATCTAATTGGAGAAGACTTTTTGGCCATCTATAAAAAA TAGCAGTGCACATCTTTGCCTTTCTACCATCATTATCCCTGATTTGGGTT CTTTATAGCACCTGATGTATATATCTACATATATATGTATTTTTCTATAT CTACATCTATTTCATATCCATATGATCTGTATCTTTATCTATCTATCTAT CTATCTATCTATCTATCTATCTATCTATCTATCATCTATCTATCTAATCT TTGGTATTGTCTGTCTCTTTTCTCTCTCCAATTAGAATATAATCTCCATG AAGACAAAGAACTTTGTCTATTTTATTCATTTCTAAATCCTCAAAACTAG AACACATGGTAGCACATGGTAGGTAGTTAATACATATTTATTGAATGAAT AAGTGAATAAATAGACAAATGAGTTGCAGACTGTTTGGGTACCTTCCAGT TTTAAGCACTGAGGCCCCATGTTGAATGGGAGAGGGAAATGTGAACAGAT AATTTAAAATATTATGTGATAAATAAAATAGTAAAAATAACTATTGCCTT TCAAAGTAATTTTATCTGGAAATATAAATTTTAAAATTTAAAAAATATTA TATAAAATTTAATAAGAGATTATTTTCTTTATAAAGAGAAAGAGGGGCAT TTGGCAAGTATACTAAACTTAATAGCAAGAAAACTTAAATTCATATTGTG ATTACATTGTTTACTAGCTGTAGAATCTTAGGAAAATAACTCATCTAGTC TCTTCCTCCCATTGTACCTAGTATACTATCTAATTTATTTTATAGTTGTG AAGATTTAGTCAGATAATATCATACATAATGGGCATTAAGTAGATATTAT TTTTATTTCTTTCCATATCTAATACTATACTTTACATTCATAGGTTAACC TTCTGTGATCTGTCTTATTCCTCTGCAATTTTTCAATGACTTTCTAAATT CCCACTTCATTGACTTTCTTCCATTTTCTTCCTGTGAGACTTTTTGACAT CATGTGATGCCATACTCAGCCTCATCATCCCCACGAAGATTAATC	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	118	0.0085	-1094	c.281 others(19): Show c.281+90838_281+91931del	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF516_chr18_76352682_76500242	76393306	AGGCAGGT others(1086): Show AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03654.hp2 NA19054.hp2 others(1): Show HG02074.hp2 HG03654.hp2 NA19054.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0036 a0001c0001t0166 others(1): Show a0001c0001t0006 a0001c0001t0036 a0001c0001t0166 a0001c0001t0181	a0001c0001t0006g0248 a0001c0001t0036g0287 a0001c0001t0166g0251 others(1): Show a0001c0001t0006g0248 a0001c0001t0036g0287 a0001c0001t0166g0251 a0001c0001t0181g0305	4	346	0.0116	-1093	c.181 others(21): Show c.1811-14096_1811-13004del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AFDN_chr6_167821911_167977023	167940477	ATGTGTGG others(1085): Show ATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCA CAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAA ACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGA GGGTGGAAGCCATCCACAGGAGACATGTGGACAGACACAGAGGGATGTAG GTGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAG GGATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACGTGTGGACAGAC ACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGT GGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAG ACATATGGACAGACACAGAGAGATGTAGGGGTGAGGGTGGAAACCATCCA CAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAA ACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGATGA GGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGT AGGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAG GGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAG ACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGT GTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGG AGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATC CACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGG AAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGAT GAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGAT GTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACAC AGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0167 a0003c0009t0001g0167	1	326	0.0031	-1092	c.310 others(19): Show c.3100-2610_3100-1519del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560494	GCCCTGAG others(1085): Show GCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGC GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	180	0.0056	-1092	c.637 others(19): Show c.637+11300_637+12391del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560571	CATTCTTG others(1085): Show CATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACG AGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACA CGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGA CACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCT GAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACC CTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTG CCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGT CATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGT GTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAG GTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGG AGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGA GGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0180 a0001c0002t0002g0180	1	180	0.0056	-1092	c.637 others(19): Show c.637+11369_637+12460del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SNTG2_chr2_945849_1372613	1106698	GCGTGCTG others(1085): Show GCGTGCTGTCACTCGGGTGCAGGGTGTGGAGAGCTCCTTGATAATAATGG ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGA GTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAA TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGT GCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGG GTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTC GGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCAC TCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTC ACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	190	0.0053	-1092	c.325 others(17): Show c.325+8313_325+9404del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
C8orf34_chr8_68325955_68824023	68714361	TGTATACC others(1084): Show TGTATACCTAGAAAACTCTAAAGACTCATCCAAAAAGCTCCTAGAACTGG TAAATGAATTCAGCAAAGTTTCAGGATACAAAATTAATGTACGCATATCA GTAGCTCTGCTGTACACCAACAGCGACCAAGCTGGACAATCAAATCGAGA ACTCAACCCTTTTCATAATAGCTGTAAAAAAAAATACTTAGGAATATAAC TAAACAAGGAAGTGAAAGACCTCTACAAGGAAAACCACAAAACACTGCTG AAAGAAATTATAGACAACACAAACAAATGGAAACACTTTCCATATTCATG GATGGGTAGAATCAATATTGTGAGAATGACCACACTGCCAAAAGCAATCT ACAAATTCAATGAAATTCCCATCAAAATATCACCATCATTCTTCACAGAA CTAGGAAAGACAATCCTAAAATTCATATGGAACCGAAAAAGAGACTGCAT AGCTAAAGCTATCCTAGGTGAAAAGAACAAATCTGGAGGCATCACATTAC CTGAGTTCAAAGTATACTATAAGGCCATAGTTACCAAAACAGCATAGTAG TATTATAAAAATAGGCACGTAAACCACTGGAACAGAATAGAGAACCCAGA AATAAACCCAAATACTTAACAGCCAACTGATCTTTGACAAAGCAAACAAA AACATAAAGTGGGGAAGGGACACCCTATTCAATAAATGGTGCTGGGATAA TTGGCAAGCCACATGTAGAAGAATGAAACTGGATCCTCATCTCTCATCTT ATACAAAAATCAACTCAAAATGGATCAAGGACTTAAATCTAAGACCTGAA ACCATAAAAGTTCTAGAAGATAATGTCAGAAAAACCCTTCCAGACATTAG CTTAAAGACGTCATGACCAAGAACCCAAAAGCAAGTGCAACAAAAACAAA GATAAATAGATGGGACTTAATTGAACTAAAAAGCTTCTGCACAGCCAAAG AAATAATCAACAGAGTAAACAGAAAATGCACAGAGTGGGAGAAATTCTTC ATAATCTATACTTATGACAATGACTAATATCCAGAATCTATAATACAAAG AACTCAAATCAGCAAGAAAAAAACTAACAATCCTATCAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0045 a0002c0007t0001g0045	1	128	0.0078	-1091	c.132 others(19): Show c.1327+5285_1328-5907del	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB3_chr20_33652087_33679428	33653671	TTTGCAGG others(1084): Show TTTGCAGGCCCCGAGGCCTGGCATTGTTCCTTCTTTTGGTGTAGCTGCCT CTACCTCCTCCAGCTGGGGCGGGTTTCTGCTACCGGAGGGTGTCCTCTCC CAGCGCTGTTTACTCCTGATGGCTAGCAGCTGTTGGTGCCAGGGAGTGGA TCCCTCCTGCGTGACTCGGAGCAAGGCACTTATTCACTGAGCTTTTTCCT CCGTAAGCTGGGGATGCTAACGATGCCTATACCTCTGGGGTGTTGCGAGG GTAAAATGCAATCAACAACATGGGTATAGCCCCTAGCACAGGGCCTGGCA CCCAAGGCACCCCTGTAAACTGGTTGCTGCTATAACCTGTTTCTCTCCCC ACCAATCTGTGGTTTCTTTGAGGATTGATCTTTGTGTCCAGCACTCTATG TGGAGCCTGGTGTCCTGCTGAAGTAGTATGTTTCGAGAATAATTTTTTGA AGACCACCTAATTCTCAGTCCCTTTCGGCTCATAAGAGACTGTGTTAAGG GGACTTGTTAGGAGAGCTGTAGGGCATTGGCCACCATCTAGACTGTTGCT ATCTCCAGCCTGGCCTGGCACTGAGCCAATCCCTGGGACAGGTTTGAATA TTTACAGGTGAGTCACAGGTGCAGGTGTGAGGAAGGGGAGAGGACAGGTG CAGGGAGTGGGTGGAAGGGTGGGGGCGGCAGCTGGCCAATGAGCCCGGAG CTCTCCTGACTTCAGGGCTCTGCCTGCCCTTGACCGAGTGCTGTCACCAG CCCAGAACATTTGATCATCCCCAGCACCTGCCACAAAGCAGGTGCCCAGC GCAGGATTGGGAAAGGCGCCCCAGCACAATGGCACTCACCTGCTCCTTAC AGTGGAAGCGTTTCTGTGGCGGACGGGTGGCTTGGGACAAAAGCCACAGA CAGGGTGACTGGGGTTGTAAATGGCCCAGCCTTGGCTGCCAGGACATGAA ATTATGACCTTGATGCTGAAGGCAGTGGGTGCCATTGAAGGGTCTTGGCC AGAGGTGCGTTTTTCAAAATGGCAACATTTCGAAAGCCGCCTCTGGCTGT GTCTTTACAGGGAATGGACGGGGTGGGAGCCAGGTAAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	368	0.0027	-1091	c.30 others(11): Show c.3067_*4157del	NECAB3	ENSG00000125967.17	transcript	ENST00000246190.11	protein_coding		3415		chr20	TogoVar
NLRP2_chr19_54961374_55006138	54965622	ATTTTTTG others(1084): Show ATTTTTTGTATTTTTAGTAGGTGGCTCACGCCTGTAATCCCAGCACTTTA GGAGGCTGAGGCTGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCT GGCCAGCATGGCAAAACCCCGTCTCTATTGAAAAAAATACAAAAATTAAC CAGGCGTTGTGGCGCATGCTTGTAATCTCAGCTACTCGGGAGGCTGAGGC AGGGGAATCACTTGAAGCCGGCAGGCGGAGGCTGCGGGGAGCCGAGATCG TGCCGTTGCACTCCAGCCTGGGGAACAGAGCAAGACTCCATTAAAAATAA AATAATAATAATACTGTGAATGTGAAACTGATGAACTTGGTGCTTTTCAT GCGTCTCATAGTTGACGTGTCATTGATATTTCACTTGAAATACGGTTGGA TTTTTATTAATAATATACCTGGGGTGATGGGAGAAGGTAGCCAATCACAG CTGAGGCTTCTAAGCGGTGATTCTCAGCCTCGGCCGCAATCACAGTTATC TGGGACTCTCGAAAGAACTCCAGGGTCTGGGCAGTCCCAGTGTAACCAAT CAAGCAGAATCTCTAGGCGTTCGTGCTTTGAAATGAGGCTCCACATAGGT AAGTTTAACAGGCAGTCAAGATGGAGGACCACAGGTGGAGATCCGGAAGC TCAGGTGAAGGACCGCCCCCCAACACCCCCCGCCCCCAAAAGACCTCTCA GTAATTCCGGTGGATACAGGAAGTGCTCAGCAACGATTACGCCCCGAGGG CCAATCACAGGGCTGCGGCCGAGAGAGAAGCCTTATTAGAGCTTTCTCAA CCTGCAGCCCTCATCTCCGCCGGCGAGTAGGGCCAGGTGTTGGGAGGTGA GTAGCTCTCCGGCAGCTCTGCAACTTCATTTCTTTATTTCTCCATTCCAC AGTTGGTAAAATTTCTCCTTTTATTTCATATATTTTTTTTCTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGAGACTACAGGCACCTGCCACTATGCCCAGCTAAT	A A	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0026 a0003c0005t0026	a0003c0005t0026g0429 a0003c0005t0026g0429	1	429	0.0023	-1091	c.-84 others(12): Show c.-843_-18+265del	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132134848	CACTCCTC others(1083): Show CACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTG TGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGTG CCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACC TCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCC CGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTG CCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0084 a0005c0007t0011g0084	1	334	0.0030	-1090	c.33 others(11): Show c.3334_*4423del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1745		chr12	TogoVar
FBLN2_chr3_13544125_13643404	13639682	TCCATACG others(1083): Show TCCATACGGAGGGTCTTGGAGAACAACTTCTCTCCGGACCTTAGAGTTTC TAAGGTGATTCTAGAATTCCATGCCGGCAAGTTTGGCAAACTGCAGCTTC AGGGAATAGCCCCTACAAGACTACCCTCACTGCAGACCAAGAACTGCACA CCAGAAACAAGCTCAGGCATCCCTAGGACCACCCTCACGTCTGAGCAATG GGCTACAGGTTTGGGGGTCCTTACATCCACCCTCAGGCTCATTAATTCAC CTGCATGACTCAGACAGTTTATGGTGAAAGGAAGCAGGTTAAAGTCATTG ATGAATTCTAGAGCAGAGTCCAGGAGAGCCCAGTCACGGAGCTCCCGTGT CCTCAGGATGCAGCACAACAGAATAGAGCTGAACAGGGCACCTTTGGGGT CCAGGTGTGTCTGGGAGCTTGACCACCTGGCTGTCAGCGTGGCTGGCCCT AAGTCTCCAGTCCCTCGCAGAGGTCAGAACTGAGGCAGCAAAGCCCCTGA AAACGCTGGTACTCCAGTGCCAGCCAGGACGTTCTGGGGGCCGAGAGCTC ACCCTGCAGGCCACCCCCGGCCCCGGCCCCAGCGTTCTCGCAGTGGAATA GTCACGTTTGTCTGGGCAGCTCCTTCAGCGTTGCCTGCTTCCTCCCTTGT GGCAGGGCTGCCCGTGCCTATGAAGCATGTAAAGAACCACCGTGTGCAGG CGTTAGCCCGGGGTTGGCTCCACCTAGCTCTTCCGCAGGTGTCATTCTCC ATCGTTGCTACATCCTGAGGAGGCTGGAACTCAGGGTTTCAATACATTTG CCATCACCATCAACGTTATAACCTTATCAACCGTGCCAGGTAGGACCATA TTGCAGTCTGGTGGATGTCACCTAAAAAGGAAGACCGGAGTCCCACTCAG TCATAGCAGTTTATCTAGTCCATCACCACATCAGATCAGCAGATGTCCCC CAGGGTGAGGCCACTCAGGTTTGCAGGCTGCCATTCGACCTTGTCAAGTT CCAAAAGCAGAGGCGGCCTTGGCGTCACCCTTTCAGGCATCTAGTGTAGT TGAGCTGAGACGATGCCCTCCACGCCGCTCTTAAGGTAGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00741.hp2 others(8): Show HG00099.hp2 HG00140.hp2 HG00741.hp2 HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01433.hp2 HG02735.hp2 HG03239.hp2 NA19009.hp2 NA20752.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0063 a0003c0009 a0003c0011 others(2): Show a0002c0063 a0003c0009 a0003c0011 a0003c0064 a0007c0039	a0002c0063t0007 a0003c0009t0007 a0003c0011t0003 others(2): Show a0002c0063t0007 a0003c0009t0007 a0003c0011t0003 a0003c0064t0007 a0007c0039t0010	a0002c0063t0007g0124 a0003c0009t0007g0058 a0003c0009t0007g0059 others(8): Show a0002c0063t0007g0124 a0003c0009t0007g0058 a0003c0009t0007g0059 a0003c0009t0007g0107 a0003c0009t0007g0142 a0003c0009t0007g0178 a0003c0009t0007g0276 a0003c0011t0003g0152 a0003c0011t0003g0174 a0003c0064t0007g0060 a0007c0039t0010g0056	11	312	0.0353	-1090	c.17 others(11): Show c.1764_*2853del	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding		1279		chr3	TogoVar
NLRP2_chr19_54961374_55006138	54964613	AGGAGTTT others(1083): Show AGGAGTTTGAGACCAGCCTGGCCAGCATGGCAAAACCCCGTCTCTATTGA AAAAAATACAAAAATTAACCAGGCGTTGTGGCGCATGCTTGTAATCTCAG CTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAAGCCGGCAGGCGGAGG CTGCGGGGAGCCGAGATCGTGCCGTTGCACTCCAGCCTGGGGAACAGAGC AAGACTCCATTAAAAATAAAATAATAATAATACTGTGAATGTGAAACTGA TGAACTTGGTGCTTTTCATGCGTCTCATAGTTGACGTGTCATTGATATTT CACTTGAAATACGGTTGGATTTTTATTAATAATATACCTGGGGTGATGGG AGAAGGTAGCCAATCACAGCTGAGGCTTCTAAGCGGTGATTCTCAGCCTC GGCCGCAATCACAATTATCTGGGACTCTCGAAAGAACTCCAGGGTCTGGG CAGTCCCAGTGTAACCAATCAAGCAGAATCTCTAGGCGTTCGTGCTTTGA AATGAGGCTCCACATAGGTAAGTTTAACAGGCAGTCAAGATGGAGGACCA CAGGTGGAGATCGGGAAGCTCAGGTGAAGGACCGCCCCCCAACACCCCCC GCCCCCAAAAGACCTCTCAGTAATTCCGGTGGATACAGGAAGTGCTCAGC AACGATTACGCCCCGAGGGCCAATCACAGGGCTGCGGCCGAGAAAGAAGC CTTAATAGAGCTTTCTCAACCTGCAGCCCTCATCTCCGCCGGCGAGTAGG GCCAGGTGTTGGGAGGTGAGTAGCTCTCCGGCAGCTCTGCAACTTCATTT CTTTATTTCTCCATTCCACAGTTGGTAAAATTTCTCCTTTTATTTCATAT ATTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGGTGGCTCACGCCTGTAATCCC AGCACTTTAGGAGGCTGAGGCTGGCAGATCACCTGAGGTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(59): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01346.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 NA18522.hp1 NA18947.hp2 NA18949.hp2 NA18955.hp1 NA18974.hp1 NA18995.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19077.hp1 NA19084.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0010 a0026	a0001c0002 a0001c0004 a0001c0033 others(9): Show a0001c0002 a0001c0004 a0001c0033 a0002c0009 a0002c0019 a0004c0007 a0005c0036 a0006c0016 a0006c0035 a0006c0050 a0010c0020 a0026c0034	a0001c0002t0001 a0001c0004t0001 a0001c0004t0008 others(12): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0008 a0001c0033t0001 a0002c0009t0003 a0002c0009t0004 a0002c0009t0006 a0002c0019t0008 a0004c0007t0003 a0005c0036t0001 a0006c0016t0001 a0006c0035t0001 a0006c0050t0012 a0010c0020t0001 a0026c0034t0003	a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0173 others(59): Show a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0173 a0001c0002t0001g0211 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0337 a0001c0002t0001g0408 a0001c0002t0001g0410 a0001c0004t0001g0027 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0210 a0001c0004t0001g0312 a0001c0004t0008g0031 a0001c0033t0001g0018 a0002c0009t0003g0425 a0002c0009t0004g0208 a0002c0009t0006g0384 a0002c0019t0008g0032 a0004c0007t0003g0007 a0004c0007t0003g0009 a0004c0007t0003g0010 a0004c0007t0003g0011 a0004c0007t0003g0012 a0004c0007t0003g0013 a0004c0007t0003g0014 a0004c0007t0003g0016 a0004c0007t0003g0017 a0004c0007t0003g0019 a0004c0007t0003g0020 a0004c0007t0003g0339 a0004c0007t0003g0340 a0004c0007t0003g0341 a0004c0007t0003g0342 a0004c0007t0003g0343 a0004c0007t0003g0344 a0004c0007t0003g0345 a0004c0007t0003g0346 a0004c0007t0003g0347 a0004c0007t0003g0412 a0005c0036t0001g0008 a0006c0016t0001g0004 a0006c0016t0001g0005 a0006c0016t0001g0006 a0006c0016t0001g0413 a0006c0035t0001g0183 a0006c0050t0012g0168 a0010c0020t0001g0030 a0010c0020t0001g0033 a0010c0020t0001g0169 a0026c0034t0003g0015	62	429	0.1445	-1090	c.-18 others(10): Show c.-1871_-782del	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding		1760		chr19	TogoVar
NLRP2_chr19_54961374_55006138	54965175	GGGAAGCT others(1083): Show GGGAAGCTCAGGTGAAGGACCGCCCCCCAACACCCCCCGCCCCCAAAAGA CCTCTCAGTAATTCCGGTGGATACAGGAAGTGCTCAGCAACGATTACGCC CCGAGGGCCAATCACAGGGCTGCGGCCGAGAAAGAAGCCTTAATAGAGCT TTCTCAACCTGCAGCCCTCATCTCCGCCGGCGAGTAGGGCCAGGTGTTGG GAGGTGAGTAGCTCTCCGGCAGCTCTGCAACTTCATTTCTTTATTTCTCC ATTCCACAGTTGGTAAAATTTCTCCTTTTATTTCATATATTTTTTTTCTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC TGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGA GGCTGAGGCTGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGC CAGCATGGCAAAACCCCGTCTCTATTGAAAAAAATACAAAAATTAACCAG GCGTTGTGGCGCATGCTTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGG GGAATCACTTGAAGCCGGCAGGCGGAGGCTGCGGGGAGCCGAGATCGTGC CGTTGCACTCCAGCCTGGGGAACAGAGCAAGACTCCATTAAAAATAAAAT AATAATAATACTGTGAATGTGAAACTGATGAACTTGGTGCTTTTCATGCG TCTCATAGTTGACGTGTCATTGATATTTCACTTGAAATACGGTTGGATTT TTATTAATAATATACCTGGGGTGATGGGAGAAGGTAGCCAATCACAGCTG AGGCTTCTAAGCGGTGATTCTCAGCCTCGGCCGCAATCACAGTTATCTGG GACTCTCGAAAGAACTCCAGGGTCTGGGCAGTCCCAGTGTAACCAATCAA GCAGAATCTCTAGGCGTTCGTGCTTTGAAATGAGGCTCCACATAGGTAAG TTTAACAGGCAGTCAAGATGGAGGACCACAGGTGGAGATCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0302 a0001c0002t0001g0302	1	429	0.0023	-1090	c.-13 others(10): Show c.-1309_-220del	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding		1198		chr19	TogoVar
SDK1_chr7_3296252_4274000	3614814	CCTTATAA others(1083): Show CCTTATAATGAATGTTAGTGTCTGTGCTAACCATAATTTTACGGCCATTT GGATCTCGAGATATTTGCTTGCCAGCTATATGAAACCATTCTTTAAAATG AGCTTTTTTTTTCCTACCAGCTCACAGTATCCAGCCTTATAATTTGTACA TGGTATAGGCATGTTTGTTTAACTATAAAGTCCATGAAAAATTGAGTTGT AGTATCATTTTAATTCAAATCCGTTGTATACTATATTAAAATGATGATGC TCTATCAATAGCAAAACCAAATTCAGATTTTTGAGTTTCTATCTCGAAGC TTTTCCCTTTCGAAAAGATGTATGTTTTCTATGACTCATTCGTGTAGGAC ACTGGAACCATATGAAGTGGCATTTCTTTTTCTGTTGTTAAACAGAGTGC AAATGGCCAGACATTAATAAAGCCTGTAGCTCAGTAAATCCCACAGGATC AAAGCTACCTCCATTGCAGTTCAGCTTTATTAGACTGTTTGGGTAATAAG AGGAGATGATTTTTGCTGAAGTACATAGGAAAAAGGAAATTGGACACATG GCTACATTCAAATTTAAGAATGCAGTTGATATACAGCTTAACGCATGTCA GTTGCAGCAGAAGCAGGCAGAACTCTTGGAACAGGACAAGGCTCGACAAC TCCTGACTTTGAGTTACATGTGCTGTCACAGCATCTAACACTTTACTGCT TACATTCCTGCATCAGACCTAGATTATAAGCGCTTAAGGGACAGCGACTG TGTCTTACACTTTGTATTCTCAATGCTGATTACAGAGGCTGGTACATAGC ATCAGTGCATGTTTATTGAACAGAAAGTTGTACAAGTCAGAGACATAAGA ATCCTTCTTGACATCTCCCTCTCCCTCACATCCATAACCAATCTATCACT GAATCTTTTTCCCACCTAACTATTGCTTTAAAGCGGATCACTGCAGTGGC CTCTGGACTGGTGTCCTCCCACTATTCCACGCCCTCTTTTTTTCCTTCTC ACATTACAGCCAGAATGTTCTTTTAACAACACAATCACACAACCTCTTCA AAGGCTTTTTGCTGTCTTTTTTTTTTTTTCTGAGACAGGGT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA20752.hp1 HG01978.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0042 a0001c0002 a0002c0042	a0001c0002t0004 a0002c0042t0002 a0001c0002t0004 a0002c0042t0002	a0001c0002t0004g0104 a0002c0042t0002g0105 a0001c0002t0004g0104 a0002c0042t0002g0105	2	116	0.0172	-1090	c.299 others(17): Show c.299-4262_299-3173del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMOC2_chr6_168436184_168672992	168560934	GCATTCTT others(1083): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGG CTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATAC CCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0126 a0001c0005t0001g0126	1	180	0.0056	-1090	c.637 others(19): Show c.637+11732_637+12821del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
ZNF516_chr18_76352682_76500242	76392812	AAGGCAGG others(1083): Show AAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0016 a0016c0035t0016	a0016c0035t0016g0311 a0016c0035t0016g0311	1	346	0.0029	-1090	c.181 others(21): Show c.1811-13599_1811-12510del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
RNF213_chr17_80255852_80403794	80313908	GTGGTGAT others(1082): Show GTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGA GGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGG AGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAG GTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGT GATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGG TGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTA ATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGAT GGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGACGTGA TGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGAGGTACTG GAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGT GGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGA TGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTG GAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGG TGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTG ATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGA GGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGG TACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTG GTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGT GGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTAC TGGAGGTGATGGTGGTGGTGAAGGTGTTGGTGGAGGTACTGGAGGTGATG GTGGTCGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0132 a0001c0006t0009g0132	1	292	0.0034	-1089	c.281 others(18): Show c.2811+742_2811+1830del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RPS26_chr12_56036918_56049697	56048608	GTTGCAGT others(1082): Show GTTGCAGTGAGCCCAGATCGTGCCACTGCACTCCAGCCTGCGTGACAGAG TGAGACTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAACTTGCTACAAA CATTTGTGTACAAAGTCTGTGTGGACATATGCTTTCTTTTCTCATATGTA AATAGAGTCATGTGTCCTCAAGAACAGGGATATGTTCTGAGAAATTCATC CTTAGGCAGTTTTGTCATATGAACATCTTAGAGTGTACTTACACAAACCT AGATGGTATAGTCTACTACACACCAAGGCCATATGGTAGAGTCTATTACT CCCAGGCTACCAACCTATGCAGCATGCTACTGTACTCAACGCTGTAGGCA ATTGTAACATAATGATATTTGTGTATCTAAACATAGAAAAGATACAGTAG GCCAGGCACTGTGGCTCATGCTGGTAATCCCAACACTTTGGGAGGCTGAG GCGGGCTGATTTCTTGAGACCAGGAGTTTAAGACCAGCCTGACCAACATG GTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCCAGGCGTGGTGGC AGGTATCTGTAGTCCCAGCTACTTGTGCGGCTGAGGCAGGAGAATTGCTT TAACCCTGGAGGCGAAGGTTACAGTGAGCCAAGATCGCGCCATTGCACTC CAGCCTAGGCAACAAAGCAAGACTCCATCTTGAGAAAAAAAAGAAAGAAA GAGGGAGGGAGGGAGGGAGGGAGGAAAGAAGGAAGGAAGGAAGGAAGGAA ACGAACAGTAAAACTATGGCATAAAAGATTAAAAATGGGCCGGGCTCAGT GGCTCACGCCAGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCA CGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCT CTACTAAAAATACAAAAAATTAGCTGGTTGTGGTGGTTAGCGCCTGTAAT CCCAGCTACTTGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGCA GAGGTTGCACTGAGCCGAGATCACGCTACAGCACTCCAGCCTGGGCAACA GAGCGAGACTCTATCTCAAAAAATACAAATAAATGGGCCG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	-1089	c.44 others(11): Show c.4455_*5543del	RPS26	ENSG00000197728.11	transcript	ENST00000646449.2	protein_coding		3912		chr12	TogoVar
ALS2_chr2_201695267_201785933	201739128	ACTTGGGA others(1081): Show ACTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGGTTGAGGCT GCAGTGAGCTGTGATTCCAACATTGCACAGCCTGAGTGACAGGATACGAC TGTCTCCCAAAAAAAAAAAAAAAAAAAAAAAGATGGTAATATAAAAGGAA ATTTTAAAAACACCTAAAGCTAAGCAGAAAATGCAGTAATTTACTTGGTA TCTACCAAGCAATATCTATTACGTGGTAACTTAATTAACATACTTGAGAA AACATAATTAAAATAGTTGAATTTTTGATGAAAATTTTCTGTAATCTTCA CTTCAGGTTTCCCAATTAAGAAATGACAGTGAAGGCTGGGGGCGGTGGCT CACTCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAAGTGAATCACCTG AGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCT ACTAAAACTATAAAAATTAGCTGGGCGCGGTGGCGGATGCCTGTAATCCC AGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACTTGGGAGGCAGA GGTTGCGGCGAGCCAAGACCGTGCCATTGCACTCCAGCCTGGGCAACAAG AGCGAAACTCCAGCTCAAAAAAAAAAAAAAGAAAAAAGAAATGACAGTGA AGGTAAGAAAATATGTTAAAAGTGCTTGAGTCAGTGTTAGAAAATGTTGA TTAAATATTGATATGCTGCTAAAGAACAAGTCTAGTTATACTGCTTTGAG CCCTGTACATTTCTTGTACACACTTGGGCTGGCAAATGGAATCAACTGAC TTTGAGGAAGAAGGGAAACTCCTAGTAAAATTAGCCCACAGTACTATACA ATTAAATATGGTTATAATGGTTAATTTTATGTGATGTGTATTTTATCACA ATTAAAAATAATTTTCGCCAGGCACAGTGGCTCACACTTGCAATCCTAGC ACTTTTGCAGGCTGAGGCAGGAGGATAACTTATGCCCAGGAGTTTGAGAC CAGCCTGGGCAACATAGTGAGACCCCCATCTCTACAAAAAATTAAAAAAA TTAGCTGGATGTGCTGGCATGCACCTGTAGTCCTAGCTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp1 HG02486.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0038 a0001c0003t0001g0042 a0001c0001t0001g0038 a0001c0003t0001g0042	2	354	0.0057	-1088	c.235 others(18): Show c.2351+1458_2352-394del	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	11/33			chr2	TogoVar
DPH7_chr9_137549444_137583925	137565418	TGGATGAC others(1081): Show TGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	340	0.0029	-1088	c.641 others(16): Show c.641-1352_641-265del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565812	TCTGTCTG others(1081): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	340	0.0029	-1088	c.641 others(16): Show c.641-1746_641-659del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
LACTB2_chr8_70632266_70674185	70671320	CATGATCT others(1081): Show CATGATCTCATTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTAC ATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGG TGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATG CTATCCCTCCCCCCTTCCCCGACCCCACCACAGTCCCCAGAGTGTGATAT TCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGT GAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAAT GATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCAT TTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTA ATCCAATCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTAT TGTGAATAGTGCCGCAATAAACATACGTGTGATTGTTTATCTAGAAAACC CCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAA GTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACAC CAACAACAGACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAA TTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTG AAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGA GGAGACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCA ATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCC ATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTAC TTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCC TAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTA TACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAG AGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(94): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01934.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02080.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp2 NA18949.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19054.hp2 NA19058.hp2 NA19059.hp1 NA19063.hp2 NA19066.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0108 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0002t0001g0194 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0215 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0004t0001g0172 a0002c0003t0001g0169	97	352	0.2756	-1088	c.-32 others(11): Show c.-3288_-2201del	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding		2136		chr8	TogoVar
MPHOSPH8_chr13_19628659_19678441	19675482	AACCACAG others(1081): Show AACCACAGAAAATGTGCCCCTGTAGCATGTTTTTAAATGGCAAGTGCTAT GATTGCCCAGACATCCATAAACTGCTTGTATGGAGTAAGAAATTCATAAA TGAAGAAAGATTTGTTTTCTGTCTTGTTTCTCCTAGGTCACGAACAGGAT ATTTCCCACAAAATGTTTTGACCTGGAAAAGAGACAGAGTCTTCACTAGT AAACAGGATCTAATCTCCATAGTATATTTTTCTAAAGAAACAAGAGCTTT CAGTCCTAAAGTAATTTGCTAGACTAGAATCACTGACCAGCAGACCTAAA TTCAAGCTTCAATATTAAGATTGTTGATGGAGGAAACTGTCATGGAAATG GCAATTTCTTAACTCTTTATAATAAAAGCAGATTCAATGTCACAAGAATT AAATATTTGGCCTTTTAATAATTTTACTTTCTTTACATGTTTCTGGAGTG AACCTCGGTTACTTTTCACTGACTTTGTTAGAAAGCAAAATCTATAAAAG GAGTTACTTTAACTGAAGTAACAGTATTCACATATTTTAACCAAAATTTT AAAATCCTAAAGTTCCAATGACAAATCTACCTGATAAGCTTATAGAATCT CTCTCCCCTTCTCTCTTTGAAGGCCACAGAATGCCACAGGCTTGATCTAT GCCACAGACAGCTTATGTACACAATTTTTTTTCCTTTCCCATATATTTCC TTACCCATATATGAGATTCGTTCTTTGGATTTTCAGATACCTACATAATA CAGCAATTTAAAAGTTTAACTTCAATAAAATCTCCATAGACTAGAAAATT ATTCTCTAGTTTCCATCCTCAAAATTTCTGTTGCATAGGCTGAGGGTGTG GCTTGAGAATGTGCATTCTGAAGCTCCCAGATGGCGATGCTGCTGGTCTA GGCCTGAGAACCAAAGCCTGAGATTTAACTTTCTAGAGCTGGGTACAGTA TGCAAAACAGCTGTCACATTTTTGTGCTGCATGAGGTGTCAGATACTTTG AAAAGGTATAATTTCTCAAAACTACAGAATACATCAGTGCATCTCAAACC AAGTGCACACAAATCCTAGAAAGAAACGTCTTCATTAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0118 a0005c0006t0001g0118	1	292	0.0034	-1088	c.36 others(11): Show c.3608_*4695del	MPHOSPH8	ENSG00000196199.14	transcript	ENST00000361479.10	protein_coding		2042		chr13	TogoVar
OR2T6_chr1_248370746_248396811	248383054	GAAAGCAC others(1081): Show GAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTAATGTGTTTCC TAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATC CTATCCTGGTGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACT AGCCTGAGTGTGTTCATCCTATCCTGAAGTGTATCCTAGTGTTATCATCA TGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGT TTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCT CATCCTATCCTGATGTGTTTCCTAGTGTTATCGTCATGGAGAAAGCACTG CACTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCTAGTGTTATC ATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGAT GTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTG TGCTCATCCTCTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGC ACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCTAATGT TATTGTCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCC TGATGTGTTTCCTAGTGTTATCGTCATGGAGAAAGCACTGCACTAGCCTG AGTGTGCTCATCCTATCCTGAAGTGTTTCCTAGTGTTATCATCATGGAGA AAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTA GTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCT CTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAG CCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCTAGTGTTATCATCATG GAGAAAGCACTGCACTAGCCTGAGTGTGTTCATCCTATCCTGAAGTGTTT CCTAGTGTTATCATCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCA TCCTATCCTGATGTGTTTCCTAGTGTTATTGTCATGGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(97): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01255.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02683.hp2 HG02738.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19055.hp1 NA19058.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19084.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0002c0005 a0002c0015 others(1): Show a0002c0002 a0002c0005 a0002c0015 a0010c0016	a0002c0002t0002 a0002c0002t0026 a0002c0002t0027 others(5): Show a0002c0002t0002 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0005t0039 a0002c0015t0002 a0010c0016t0030	a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0019 others(20): Show a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0019 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0087 a0002c0002t0002g0094 a0002c0002t0026g0001 a0002c0002t0027g0001 a0002c0002t0028g0050 a0002c0002t0029g0001 a0002c0005t0039g0070 a0002c0015t0002g0001 a0010c0016t0030g0009	100	403	0.2481	-1088	c.-15 others(18): Show c.-158-1618_-158-531del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
XKR9_chr8_70664339_70740942	70671320	CATGATCT others(1081): Show CATGATCTCATTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTAC ATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGG TGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATG CTATCCCTCCCCCCTTCCCCGACCCCACCACAGTCCCCAGAGTGTGATAT TCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGT GAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAAT GATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCAT TTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTA ATCCAATCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTAT TGTGAATAGTGCCGCAATAAACATACGTGTGATTGTTTATCTAGAAAACC CCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAA GTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACAC CAACAACAGACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAA TTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTG AAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGA GGAGACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCA ATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCC ATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTAC TTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCC TAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTA TACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAG AGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00733.hp2 others(89): Show HG00140.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp2 NA18949.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19058.hp2 NA19066.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0004 a0004c0008 a0001c0002 a0002c0004 a0004c0008	a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 others(6): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0002c0004t0002 a0002c0004t0009 a0004c0008t0002	a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0023 others(80): Show a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0165 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0005g0024 a0001c0002t0005g0237 a0001c0002t0005g0238 a0001c0002t0005g0239 a0001c0002t0005g0240 a0001c0002t0005g0259 a0001c0002t0005g0261 a0001c0002t0005g0262 a0001c0002t0008g0208 a0001c0002t0008g0209 a0001c0002t0008g0210 a0001c0002t0008g0241 a0001c0002t0022g0253 a0001c0002t0023g0245 a0001c0002t0024g0232 a0002c0004t0002g0264 a0002c0004t0009g0272 a0002c0004t0009g0273 a0002c0004t0009g0274 a0002c0004t0009g0275 a0004c0008t0002g0271	92	322	0.2857	-1088	c.-36 others(19): Show c.-361+1799_-360-2394del	XKR9	ENSG00000221947.8	transcript	ENST00000408926.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BRSK2_chr11_1384934_1467689	1429691	CGGTCTGG others(1080): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp1 HG01361.hp2 others(1): Show HG00639.hp2 HG01261.hp1 HG01361.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0074 a0001c0001t0004 a0001c0001t0006 a0001c0001t0074	a0001c0001t0004g0161 a0001c0001t0004g0179 a0001c0001t0006g0215 others(1): Show a0001c0001t0004g0161 a0001c0001t0004g0179 a0001c0001t0006g0215 a0001c0001t0074g0213	4	360	0.0111	-1087	c.92- others(15): Show c.92-6322_92-5236del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430946	TCAGCAGT others(1080): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0269 a0002c0002t0005g0269	1	360	0.0028	-1087	c.92- others(15): Show c.92-4930_92-3844del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431156	CGGTCTGG others(1080): Show CGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCT TCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	360	0.0028	-1087	c.92- others(15): Show c.92-4763_92-3677del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431277	TCAGCAGT others(1080): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18953.hp1 NA18969.hp1 others(2): Show NA18944.hp2 NA18953.hp1 NA18969.hp1 NA19079.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0061 a0002c0002t0005 others(1): Show a0001c0001t0003 a0001c0001t0061 a0002c0002t0005 a0002c0002t0010	a0001c0001t0003g0265 a0001c0001t0003g0271 a0001c0001t0061g0266 others(2): Show a0001c0001t0003g0265 a0001c0001t0003g0271 a0001c0001t0061g0266 a0002c0002t0005g0264 a0002c0002t0010g0275	5	360	0.0139	-1087	c.92- others(15): Show c.92-4340_92-3254del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
IFI35_chr17_43001784_43019456	43011303	GAGGTCAG others(1079): Show GAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAAACCTGTTTC TACTAAAAATACAAAAATGAGCCAGGTGTGGTGGTGGGTGCCTGTAATCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATTACTTGATCCTGGGAGGTGG AGGCTGCAGTGAGCCAAGATCGCGCCACTGCACCCCAGCCTGGGAGACAG AGCAAGACTCTGTCTCAAAAATAAATAAATAAATAAAAATTAAAAAAATA AATCAATAAAATAAGGATCACAGGATATCTATCTTAGATACCCTGTTGTT CTAAGAATTGAATGAAATAATTCATCAGACGGGCTTAGCACAGTGCCTGG CATATAGTAAGTACTTAGTAAACGTTAGTTAAGAATATGACTGTATGACA TTTTGCAACTAGTCTCCCCTCCTCTTGGAGGTGTCCCTAATTGGGTTAAC CCCTTTGGGATTGTCCCTCTTCCAAATTCCGGCTGCCCTTCACAGTCAGT CATGTGATCATGTACTCTTGAGCACTGTTTGGCAGGCCTGAGGGTCGTAC CCTTATCTTCCACTGCCTGTGTCAGTGCCGAGCACTTTCTAGCAGGAGCT TAATCAGTGTTTGTTGAACTCTAGATCTGTGGTCACGAACAAGTCATGGA CGCTGCAAAGGCTCCTGCCCTTTCAAGAGCAGCTGAGATGAGGCCAGCCA AGCCCTGGGTGGAGGGGGCCAAGACCAGCCCAGGGCAGCACAAAGGGGTT GGGTTGTTCTTGAGCTTAGCATCAACTCTGCTTTTGGAGCGTCCAGAATA GGCCCCACTTCCCCTGGGCTTGTTGATTCTCTGGAAGGGCGGGTAGAAGT CTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAG CAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGA GCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTT TGGTAAAAACGAGCTGGCGAGGCCGGGTGCGGTGGCTCACACCTGTAAAC CCAGCACTTTGGTAGGCCAAGGGGGCCTGATCACCTC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18953.hp2 NA18969.hp1 NA18953.hp2 NA18969.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0032 a0005c0005t0001g0032	2	340	0.0059	-1086	c.22- others(14): Show c.22-855_120+132del	IFI35	ENSG00000068079.8	transcript	ENST00000415816.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAF3_chr10_7813505_8021631	7953865	CCTAGTTA others(1079): Show CCTAGTTAACACAGAGCTCTCCATAGTGAGATTCAGAGTGCACTCCATAG GTGAATGAGCGGATTAGTCCTAGTTAACACAGAGCTCTCCCTAGTGAGAT TCAGAGTGCACTCCACAGGTGAATGAGTGGATTAGTCCTAGTTAACACAG AGCTCTCCATAGTGAGATTCAGAGTGCACTCCATAGGCGAATGAGTGAAT TAGTTCTAGTTAACATGAGCTCTCCATAGTGAGATTTAGAGTGCACTCCA TAGGTGAATGAATGAATTAGTCCCAGTTAACACAGAGCTCTCCATAGTGA GATTCAGAGTGCACTCCATATATGAATGAGTGGATTAGTCCTAGTTAACA CAGAGCTCTTCCTAGTGAGATTCAGAGTGCACTCCATAGGTGAATGAGTG GATTAGTCCTAGTTAACACAGAGCTCTCCCTAGTGAGATTCAGAGTGCAC TCCATAGGCGAATGAGTGAATTAGTTCTAGTTAACACAGAGCTCTCCATA GTGAGATTCAGAGTGCACTCCATAGGCAAATGAGTGAATTAGTTCTAGTT AACACGAGCTCTCCATAGTGAGATTTAGAGTGCACTCCATAGGTGAATGA ATGAATTAGTCCCAGTTAACACAGAGCTCTCCATAGTGAGATTCAGAGTG CACTCCATAGGCGAATGAGTGAATTAGTTCTAGTTAACACAGAGCTCTCC ATAGTGAGATTTAGAGTGCACTCCATAGGTGAATGAATGAATTAGTCCCA GTTAACACAGAGCTCTCCATAGTGAGATTCAGAGTGCACTCCATATGTGA ATGAGTGGATTAGTCCTAGTTAACACAGAGCTCTCCCTAGTGAGATTCAG AGTGCACTCCATAGGTGAATGAGTGGATTAGTCCTAGTTAACACAGAGCT CTCCCTAGTGAGATTCAGAGTGCCCTCCATAGGCGAATGAGTGAATTAGT TCTAGTTAACACAGAGCTCTCCATAGTGAGATTCAGAGTGCACTCCATAG GTGAATGAGTGAATTAGTTCTAGTTAACACAGAGCTCTCCATAGTGAGAT TCAGAGTGCACTCCATAGGCGAATGAGTGAATTAGTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00639.hp2 others(72): Show HG00280.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02451.hp2 HG02647.hp2 HG02818.hp1 HG03017.hp1 HG03098.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp1 NA19087.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp2	a0001 a0009 a0011 others(1): Show a0001 a0009 a0011 a0012	a0001c0001 a0009c0010 a0011c0014 others(1): Show a0001c0001 a0009c0010 a0011c0014 a0012c0017	a0001c0001t0001 a0001c0001t0003 a0009c0010t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0009c0010t0001 a0011c0014t0001 a0012c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0018 others(72): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0311 a0001c0001t0001g0318 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0003g0063 a0009c0010t0001g0023 a0009c0010t0001g0069 a0011c0014t0001g0049 a0012c0017t0001g0037	75	344	0.2180	-1086	c.410 others(18): Show c.410-10043_410-8958del	TAF3	ENSG00000165632.9	transcript	ENST00000344293.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
VAT1_chr17_43009607_43027385	43011303	GAGGTCAG others(1079): Show GAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAAACCTGTTTC TACTAAAAATACAAAAATGAGCCAGGTGTGGTGGTGGGTGCCTGTAATCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATTACTTGATCCTGGGAGGTGG AGGCTGCAGTGAGCCAAGATCGCGCCACTGCACCCCAGCCTGGGAGACAG AGCAAGACTCTGTCTCAAAAATAAATAAATAAATAAAAATTAAAAAAATA AATCAATAAAATAAGGATCACAGGATATCTATCTTAGATACCCTGTTGTT CTAAGAATTGAATGAAATAATTCATCAGACGGGCTTAGCACAGTGCCTGG CATATAGTAAGTACTTAGTAAACGTTAGTTAAGAATATGACTGTATGACA TTTTGCAACTAGTCTCCCCTCCTCTTGGAGGTGTCCCTAATTGGGTTAAC CCCTTTGGGATTGTCCCTCTTCCAAATTCCGGCTGCCCTTCACAGTCAGT CATGTGATCATGTACTCTTGAGCACTGTTTGGCAGGCCTGAGGGTCGTAC CCTTATCTTCCACTGCCTGTGTCAGTGCCGAGCACTTTCTAGCAGGAGCT TAATCAGTGTTTGTTGAACTCTAGATCTGTGGTCACGAACAAGTCATGGA CGCTGCAAAGGCTCCTGCCCTTTCAAGAGCAGCTGAGATGAGGCCAGCCA AGCCCTGGGTGGAGGGGGCCAAGACCAGCCCAGGGCAGCACAAAGGGGTT GGGTTGTTCTTGAGCTTAGCATCAACTCTGCTTTTGGAGCGTCCAGAATA GGCCCCACTTCCCCTGGGCTTGTTGATTCTCTGGAAGGGCGGGTAGAAGT CTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAG CAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGA GCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTT TGGTAAAAACGAGCTGGCGAGGCCGGGTGCGGTGGCTCACACCTGTAAAC CCAGCACTTTGGTAGGCCAAGGGGGCCTGATCACCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18969.hp1 NA18941.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	344	0.0058	-1086	c.36 others(11): Show c.3672_*4757del	VAT1	ENSG00000108828.16	transcript	ENST00000355653.8	protein_coding		3303		chr17	TogoVar
BRINP3_chr1_190092658_190482864	190356913	TTCACTCA others(1078): Show TTCACTCAAGAAGTTGGAAGGAGAAGGGCGACTGAGGAGACAACTAGGTT AACAGGTACTCTACAGAGGGACAGAGTGACAAATGCTTTCACAGACACAT GGAAATGATTTGGGGGATGATGATTACCACTTGGCATACTGATGTTCCCC CATTTCTTTTTCTTCCTCCTTTTTAAACCCCAAGGATTATAATTTACTTT CATGACCAAACTTCTATTTTATATCAGTCAGGTTAGAAGTGATAATGTAA CTATAAGTTTTTTCAGATCAGTTAGTTGCAATAATAAAAGGAAAACAGGC CTATGCATCTTTTTTAAAAAGACATTTTGAAATTGACCGCCTTGAGTGAA CTGCCAAACCTAGATTTTAATTTGACTGATGTTTGTGCCTACAAAGGTTT TGCTTGTAAAGAAATTGAATTTTAAAAACAATTTCCAGAGGAACTTCGAT TATAGTATTGCTTCACTACTAATTTCATTTACTTAACTGTCTACATGTGA TAGAAAATTTTGATTATTATTAGTTTAAAATTTTCACAGTTTGGGTGCTG AATTTATGGCTTTGGTATACTGCCGAATCTGTAGTCAGTGTGGTATCTTT TAATAATATCCAAATACAAGAGCTTTTTGTGTAGTAAAGAATTTAACTTG GGCCTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCATGATGCCTCCA GCTTTGTTCTTTTGGCTTAGGATTGTCTTGGCGATGCGGGATCCTTTATG GTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCA TTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGCAGT ATAGCCATTTTCACGATATTGATTCTTCCTATCTGGTACCAAAACAGAGA TGTAGACCAATGGAATAGAACAGAGCCCTCAGAAATAATACCACACATCT ACAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAC GATTCCCTATTTAATAAATGGTTCTGGGAAAACTGGCTAGCCATATGGAG AAAGCTGAAACTGGATCCCTTCCTTACACCTTATAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	240	0.0042	-1085	c.237 others(19): Show c.237-76248_237-75164del	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
JADE3_chrX_46907421_47066242	46935144	GGCTGGTC others(1078): Show GGCTGGTCTCAAACTCCTGACCTCAAGTGATTCACCTGCTTCAACCTCCC AAAGTGCTGGGATTACAGACATGAGCCACTGTGCCCAGCTTGCTGGTCTG TTTTTAATCACTTTGCCAATACCACTATCTTGATTACTATAGCTTTATAG TAAGTTTTAAATTCAATTGTTATTATTCCTCCAATTTTATTCTTCTTTTT AAAAAGCGTTTTTGGCTCTTCTAGTTCTTTTGCTGTTCTTTATAAATTTT AGAAGCTGCTTGTCTCTCTCTACAAAAAATAGGCTGTGGACTCTTACCAG TCTGTGGCCTGTTAGGAACCAGGCCACACAGGAGGAGGTGAACAGTGGGC AAGCAAACATTCCTGCCTGAGCTCCACCTCCTATCAGATCAGTGGTTGCA TTAGATTCTCATAGGAGCACAAACCCTGTTGTGAACCGCTAATGTGAGGG ATCTAGGTTGCACACTCCTTATGAGAATCTAATACCTGATGATCTGAGAT GGAACAGTTTCATCTGGAAAATCATCCTCCCTTCCCCCGTCCGTGGAAAA TTGAAACCTGTCCCTGGTGCCAAAAAGGTTGGGGACTGCTGCCTTATTGT ACAGGCTGATACTTCCAGTATGACATTGAATAGGAGTCATGAGAAAGGGC ATCTTTTTCTTGTTTCAACTTTAAGTCTTTCACTTTTTTTTTTTTTTTTT TTTTTGAGGCAAGGTTTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCGT GAACACGGCTCACTGCAGCCTTGATCTCCTGGGCTAAAGCCTCGACCTCC TGAGATTACAGGTATGAGCCACCACGCCTGGCTGATTTTTCTTTTTTTAG ATTTAACGTGGTTGAATACATTGATTTTTTTTTTTTTTTTTTTGAGATAG AGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCA CTGAAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTACAGGCGCCTGCTACCATACCCAGCTAATTTTTGTA TTTTTAGTAGAAACGGGGTTTCGCCATGTTGGCCAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG02970.hp1 others(2): Show HG02622.hp2 HG02818.hp1 HG02970.hp1 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 others(2): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0005g0011	5	258	0.0194	-1085	c.-12 others(19): Show c.-12+22434_-12+23518del	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF220_chr1_44400255_44656723	44555505	CGCTCTGT others(1078): Show CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTGGAGTA GCTGGGACTACAGGCGCCTGCCACCATGCCTAGCTAATTTTTTCTATTTT TTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGC GTGAGCCACCGCGCCTGGCCTGAATGTACCAATTTATTTTTACCTCTGTG ACTGGGCATATAGCTTTCCCTTTGCTTAGAATGTCTTCTATGCCTTCATC TGCCTGTTGAACTCCTACTAATCTTTCAAGACCCAGCTAAAGTGATACAC CCTTCTTGAAGCCTTCCTTGATGTCGTTAATTGTCTCCTCCTTTGTGCCC CTACCCAGAATGTATTTCTATCACCACATCATTTTCTAATTATCTGTCCA CATGTTTTTCTCCCCACCAGACTATGTGCTTCTTTTGTGTGTGTGTTTGA GATGGAGTCTCTCTGTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCG GTACACTGCAACTTCCGCCTCCCAGGTTCAAGCAATTCTTGTACCTCAGC CTCCCAAGTAGCTGGGATTACAGGCGTGCATCACCACACCTGGCTAATTT TTGTTTTTTCAGTAGAGACAGGTTTCACCAAGTTGGCCAGGCTGGTCTCG AACTCCTGACTTCAAGTGATCCATCAGCCTCAGCCTCCCAAAGTGCTGAG ATTACAGGTGTGAGCCACCACACCCAGTGCTATGTGCTTCTTAAAGAAAG GTAGTGTATTTCCTTAGCTTTAGCACAGTGCCTGGCACATCAAACATGCT CCCTAGTCAATTAATGATGACCTGAATGAACAAATGACACCCCTCTCTAC CTGCTGTCCTCTGGTAAACCTGCCCTCTTTTTAATGCAACTCCCTCAGAC TGGCTGGACCTATTTAGGGTATCTCCTTCCCTCTCTTGCCTTTTCCTGTC TGCTCTTCCTGTTCTTTTTTTTTTTGACAGAGTCTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp2 HG01361.hp2 others(16): Show HG00544.hp2 HG00642.hp2 HG01361.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02809.hp2 HG03041.hp2 HG03579.hp2 NA18942.hp1 NA18963.hp1 NA19066.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0077 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0156 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0216 a0001c0001t0002g0026 a0001c0001t0002g0059 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0012g0218 a0001c0002t0002g0029 a0001c0002t0002g0061	19	218	0.0872	-1085	c.626 others(19): Show c.626-58590_626-57506del	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF220_chr1_44400255_44656723	44555599	GGAGTAGC others(1078): Show GGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTAGCTAATTTTTTC TATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATT ACAGGCGTGAGCCACCGCGCCTGGCCTGAATGTACCAATTTATTTTTACC TCTGTGACTGGGCATATAGCTTTCCCTTTGCTTAGAATGTCTTCTATGCC TTCATCTGCCTGTTGAACTCCTACTAATCTTTCAAGACCCAGCTAAAGTG ATACACCCTTCTTGAAGCCTTCCTTGATGTCGTTAATTGTCTCCTCCTTT GTGCCCCTACCCAGAATGTATTTCTATCACCACATCATTTTCTAATTATC TGTCCACATGTTTTTCTCCCCACCAGACTATGTGCTTCTTTTGTGTGTGT GTTTGAGATGGAGTCTCTCTGTGTCGCCCAGGCTGGAGTGCAGTGGCACA ATCTCGGTACACTGCAACTTCCGCCTCCCAGGTTCAAGCAATTCTTGTAC CTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCATCACCACACCTGGC TAATTTTTGTTTTTTCAGTAGAGACAGGTTTCACCAAGTTGGCCAGGCTG GTCTCGAACTCCTGACTTCAAGTGATCCATCAGCCTCAGCCTCCCAAAGT GCTGAGATTACAGGTGTGAGCCACCACACCCAGTGCTATGTGCTTCTTAA AGAAAGGTAGTGTATTTCCTTAGCTTTAGCACAGTGCCTGGCACATCAAA CATGCTCCCTAGTCAATTAATGATGACCTGAATGAACAAATGACACCCCT CTCTACCTGCTGTCCTCTGGTAAACCTGCCCTCTTTTTAATGCAACTCCC TCAGACTGGCTGGACCTATTTAGGGTATCTCCTTCCCTCTCTTGCCTTTT CCTGTCTGCTCTTCCTGTTCTTTTTTTTTTTGACAGAGTCTGGCTCTGTC ACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCC TCCCGGGTTCATGCCATTCTCCTGCCTCAGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20300.hp1 HG02559.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0099 a0001c0001t0001g0055 a0001c0001t0001g0099	2	218	0.0092	-1085	c.626 others(19): Show c.626-58565_626-57481del	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14			chr1	TogoVar
ADARB2_chr10_1172313_1742525	1235708	TCCCTGTG others(1077): Show TCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTG GGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCC ACCATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATC TATCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGG CCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTT GTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTC ACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGC ATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGG TGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTG AGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTG CATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCC TCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCT CCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGA GAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCC ACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGT GGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTG TCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02735.hp1 HG02257.hp1 HG02735.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0009 a0001c0001 a0010c0009	a0001c0001t0059 a0010c0009t0024 a0001c0001t0059 a0010c0009t0024	a0001c0001t0059g0092 a0010c0009t0024g0016 a0001c0001t0059g0092 a0010c0009t0024g0016	2	106	0.0189	-1084	c.136 others(19): Show c.1362-2947_1362-1864del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23845745	AATTTTTG others(1077): Show AATTTTTGTAGTTTTTGTAGAGACTGGGTTTCACTATGTTGGCCAGGCTG GTCTCAAATTCCTGGGCTCAAGCGATCTGCCTGCCTCAGCCTCTCAAAGT GCTGGAATTACAAGCAAGAGTAACTGCACCCCACCTCATGCTGGATCTTA TTAGGGGTAGAAAGATGTTCTAAAATTGATTTATATCAATAGTTGTACCA CTTTGTTGAGGTACTCTAAAAATTACTAAACTATACACTTAAAATGAGCA AATTTTATGACATATAAATATACCTCAATAAAGCTGTTTTGGCCAGACAC AGGAGGGTGAGGCGGGCATATCACTTGAGCCCAGGAGCTTGAGACTAGCC TGGGCAACATGGTGAAACCTTATCACTACTAAAAATTCAAAAAGTGGCTG GGCGCTTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAG GCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAATATGGTGAAA CCCTGTCTCTGAGACCACAGGCATGCACCACTACACCCAGCTTATTTTTG TAGTTTTTGTAGAGACTGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAA TTCCTGGGCTCAAGCGATCTGCCTGCCTCAGCCTCTCAAAGTGCTGGAAT TACAAGCAAGAGTAACTGCACCCCACCTCATGCTGGATCTTATTAGGGGT AGAAAGATGTTCTAAAATTGATTTATATCAATAGTTGTACCACTTTGTTG AGGTACTCTAAAAATTACTAAACTATACACTTAAAATGAGCAAATTTTAT GACATATAAATATACCTCAATAAAGCTGTTTTGGCCAGACACAGGAGGGT GAGGCGGGCATATCACTTGAGCCCAGGAGCTTGAGACTAGCCTGGGCAAC ATGGTGAAACCTTATCACTACTAAAAATTCAAAAAGTGGCTGGGCGCTTT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCA CAAGGTCAGGAGTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCT CTGAGACCACAGGCATGCACCACTACACCCAGCTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(71): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04228.hp1 HG06807.hp2 NA18943.hp2 NA18949.hp2 NA18955.hp1 NA18963.hp2 NA18974.hp1 NA18980.hp2 NA18986.hp2 NA18993.hp2 NA19004.hp1 NA19043.hp1 NA19086.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012 a0001c0004t0001 a0003c0005t0003 a0005c0013t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(71): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0002g0008 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0074 a0001c0001t0002g0087 a0001c0001t0002g0142 a0001c0001t0003g0007 a0001c0001t0003g0107 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0224 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0008g0001 a0001c0001t0013g0122 a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0245 a0001c0002t0007g0243 a0001c0002t0007g0244 a0001c0002t0012g0233 a0001c0004t0001g0220 a0003c0005t0003g0221 a0003c0005t0003g0222 a0003c0005t0003g0223 a0005c0013t0002g0027	74	246	0.3008	-1084	c.156 others(21): Show c.1568+10586_1569-11668del	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	13/27			chr2	TogoVar
CAPN11_chr6_44153820_44189401	44161247	TGGAGTGC others(1077): Show TGGAGTGCAGTGGCCCAACCTTGGCTCACTGCAACCTCCACCTCCCGGGT TCAAGCGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCAT GTGCTACCACACCCAACTCATTTTTGTGTTCTTAGTAGAGACGGGGTTTC ACCATGTTGGCCAGGCGGGTCTTGAACTCCTGACTTCAGGTGATCCGCCC ACCTCAGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACAGTGCCCA ACTTAAAGACATTTTCCATGACAACTGTGGTGGTGTGGATAGGTGTGTCA GTCCTTCCTGCAAGTCAGAGCTGAGTAATGACCTCACACCCTGGGGACTG GGTATGCAGCTTCGAAGCAGGGTTTGGGGGCCAGACAGTGAGAAATGACT TGTTGGGCTGGATGGTGACTAGGGGACAGAGGGCTCTGGGGAAATGAGAC AAGGGAGTTAAGATGGAACCTGAATTGCCTTGGCCTGCCCTCTGATGTTC TTTCAGTCTTCTCAAACAACAGCATCTTCCCTGGTCCTTCCAGGCCCCCA GGAGAGCTCAACACCCTCAGTCCTCGGAGCAGCCAGGGTAGAGGCTGCCT GGAGTGACTGCACGGTGCAAGGGCATGGAGTGGTTTGCCTTATCGTGTGA ATGACCTTAGATGATTCGCTCAACCCAGGTTTGTCAACCCCAGCTCTCTT GACATTTTGAACTGGAAAATTCTTTATTGTGGAGACTTTCCTCTACACTG AGGGGCGCCCAGCAGCATCCCTGGCCTCTACTTACTAGATGCCAGTAGCT CCCCTGAGACCTGCCCCAGTTATGACAACCAACACTGCCTCTAGACGTTG CCACCTGTTCCCTGGGGGCCGTAATCACCCCGGGTTGAGAACTTCTGACT CAATCTCTCTGTGGAGGCCCTGGCTTCCACCCAGCTCAGATGGGAATAGT CATCCTGATCCGCCAGCTTCACAGATAGGGATCAGGGGCTGAAACAGAAG GTGTTCAGCTCTCCCCTCTCAGGACTGCTTTCCACCCTTCCCTCGGAACC CTCTTCATCTGAAAGGGGCTCCACTGTTTAACCCC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0000 a0000	a0000c0024 a0000c0024	a0000c0024t0001 a0000c0024t0001	a0000c0024t0001g0025 a0000c0024t0001g0025	1	460	0.0022	-1084	c.16+ others(15): Show c.16+2385_16+3468del	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
OR6K6_chr1_158749720_158760891	158757135	CCCTAACA others(1077): Show CCCTAACATGTATTATCTCATTTATCATTAACAATTCTATTTAATAAATA TGAACTTCTTTTTACATGAGAAACATGGTACACAGAGCTGCAATAACTAG TCCAAGTACACAGAGATAATTATTATGAATCTAAGGCAGAAATTCATTAT GTCTGGTTCCAGATCCATGTCTTTATTGACCATGATCTCATACCTAGTTC ACAGGCTTTCATCCTAATCACTAAACTTAATAAAATTTCTAAAGGAAATA CGGTATTCAATAAGTAAATGTAATTACAAATTATCGTACATTAAGTGGTG AAAGAATTTATTCCTTGAGTCATCAAGATTTATTTATTTTTTAAAAATTT GAGTAGGAACTCTATGTCAGGCACCCTGTTAGGTGCAGAGCATTCACTTA GTGGCTATCATATGAATGGTCTTGGCTTTGGAGGTCTCGGAGTCTAATGA GTCATTATCGCTGCTATTAATGAGAATGTCATTACCCATAAAATTTACTG TTTTTCTTGTCATGAGACAGGATAATCCCTATGGACTCATTGTTCCCAGG CCATTTTATTTCCTCTAAACCTTCTGAAGTTTTTTGTGTGTGTTTGAAAC CTCTTTAGATGGTACCCTTTTTTATTCTCTTCTCTCTCTCAACCCTGCAC ATTGATTCTTTTCACAAAGGTATCCTTAACCTTTACGACTGAACCTCAGA CATAATTATTTTTACTACTGTTGCCTCCAGCTTCTCAACCTGGTTCCAAA TTACTGCAGTCTTCAAGAAAGATTCCTCACACTAATATCTCTGGCACTGA TTTTAGGACCAATATTGGCCCTTATTTTGATATGACTTTTCTCTTTTTGT TTCTCTTGCTATTAATATAGTTTTGTTTGTCCCACATCTCTCATTAGACT AAGTAGGGGTCCACAGATAGCAGAAACGTTTTCTCATCTTTCTGATTGCT GGAACACAGTATATAATTCTGCAGATTATCTGTCAACTATCCAAGCTTTG TTCTTGATTTAGGAACAGCTGGGCTGGATGATCACTAAGATCATTTCTAG TGCTGAGGCTATTTAATACTGATTTTTAACAATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp2 others(48): Show HG00140.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02818.hp1 HG02970.hp1 HG03490.hp2 HG03492.hp2 NA18943.hp1 NA18946.hp1 NA18949.hp2 NA18954.hp2 NA18963.hp1 NA18967.hp2 NA18972.hp1 NA18981.hp1 NA18990.hp2 NA18992.hp1 NA18999.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp2 NA19084.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0011 a0002c0002 a0008c0011	a0002c0002t0001 a0008c0011t0001 a0002c0002t0001 a0008c0011t0001	a0002c0002t0001g0000 a0008c0011t0001g0000 a0002c0002t0001g0000 a0008c0011t0001g0000	51	468	0.1090	-1084	c.12 others(11): Show c.1289_*2372del	OR6K6	ENSG00000180433.6	transcript	ENST00000641861.1	protein_coding		1245		chr1	TogoVar
PCGF3_chr4_700832_775089	745270	CGGGGGTC others(1077): Show CGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	366	0.0027	-1084	c.462 others(16): Show c.462+587_462+1670del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 2609 hits)