Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(582): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAGAAGGGAGAAGGAAGAA GGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAA GAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAA GAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAA GGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGGAAGAAGGAAGCAGAAGGAAGAAGGAAGAAAGAAGAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGG AAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAG AAAGAAAGAAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAG AAAAAAGGAAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGA AGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGA AGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp2 HG02071.hp2 others(5): Show HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02129.hp1 HG02155.hp2 HG02735.hp2 HG03831.hp1 NA18995.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0004 a0002c0003t0001 a0002c0003t0004	a0002c0003t0001g0004 a0002c0003t0001g0030 a0002c0003t0001g0054 others(5): Show a0002c0003t0001g0004 a0002c0003t0001g0030 a0002c0003t0001g0054 a0002c0003t0001g0069 a0002c0003t0001g0072 a0002c0003t0001g0078 a0002c0003t0001g0134 a0002c0003t0004g0186	8	21	0.3810	589	c.147 others(608): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTT CCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTC TTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCT TCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCT TCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTCCTTCTGCTTCCTTC TTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCTTC TTTCTTCTTCTTCCTTCTTCTTTCTTCCTTCTTTTTCTTCCTTCTTTTTC CTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTCCTT CTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCTTCCTTCTTC TTCTTTCTTCTTCCTTCTTCCTTCTCCCTTCTTCTATTTCTTTCTTCTTC TCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(582): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAGAAGGGAGAAGGAAGAA GGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAA GAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAA GAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAA GGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGG AAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAG AAAGAAAGAAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAG AAAAAAGGAAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGA AGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGA AGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0103 a0002c0032t0001g0103	1	14	0.0714	589	c.147 others(608): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTT CCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTC TTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCT TCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCT TCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTC TTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCTTC TTTCTTCTTCTTCCTTCTTCTTTCTTCCTTCTTTTTCTTCCTTCTTTTTC CTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTCCTT CTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCTTCCTTCTTC TTCTTTCTTCTTCCTTCTTCCTTCTCCCTTCTTCTATTTCTTTCTTCTTC TCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRKG1_chr10_51069487_52303350	51169656	T T	TATTTTCT others(582): Show TATTTTCTGCAATAGTACATGCTGTTTCCTGTTCTTACAAAGTATAGACT TTTCCTGACATAACTAGACTTCTGAACTAGCTTTCTGCCTCTTGTCTCTC TGTGTTTTATGTTATAAACTTTAGCCATGTAGTTCAATATTCTTGTAGAG AAATGACCACAAGGCTAAAAAACATAAATCCTGGGAGTTTATTCTATATC CATGCATTAAATGGCTATGTGACCAGATTGAAATGTTTGAGATAATACTC TGTACCTTACCTACTTTATTCCCCAACTTTGTGGATGACACCTCTTTTTC TCCCTAACATTTGCCTACATTAGAAACCCAGGAATTATTTCAAAAATCTG TTGCACAAATCCTATTCAGTCTATCAGGCTATCAAAATTATGTGTCCCTG TGTGCTACTGCTTTAATTGAGGACTTCATAGCTTCTTGCCTGAATTTCCC CGACAATTTTATAGGTTTTCCTGTCTCTAGTTTTATGTGACTTTCTACAT GACCATGAGCAAAATCTTTTAAAAGGAAAATGTGTTCATGTCCACCCCCC TGCTCAATGTTTTCCAATGCCTTCCCATGGTAAAATTTCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG02258.hp2 others(7): Show HG00639.hp2 HG01123.hp1 HG02258.hp2 HG02818.hp1 HG02896.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0003t0011 a0001c0005t0002 a0001c0007t0004	a0001c0001t0002g0026 a0001c0001t0003g0029 a0001c0001t0015g0009 others(7): Show a0001c0001t0002g0026 a0001c0001t0003g0029 a0001c0001t0015g0009 a0001c0002t0002g0025 a0001c0002t0003g0014 a0001c0002t0003g0034 a0001c0003t0002g0033 a0001c0003t0011g0016 a0001c0005t0002g0037 a0001c0007t0004g0056	10	62	0.1613	589	c.478 others(608): Show c.478+16326_478+16327insATTTTCTGCAATAGTACATGCTGTTT CCTGTTCTTACAAAGTATAGACTTTTCCTGACATAACTAGACTTCTGAAC TAGCTTTCTGCCTCTTGTCTCTCTGTGTTTTATGTTATAAACTTTAGCCA TGTAGTTCAATATTCTTGTAGAGAAATGACCACAAGGCTAAAAAACATAA ATCCTGGGAGTTTATTCTATATCCATGCATTAAATGGCTATGTGACCAGA TTGAAATGTTTGAGATAATACTCTGTACCTTACCTACTTTATTCCCCAAC TTTGTGGATGACACCTCTTTTTCTCCCTAACATTTGCCTACATTAGAAAC CCAGGAATTATTTCAAAAATCTGTTGCACAAATCCTATTCAGTCTATCAG GCTATCAAAATTATGTGTCCCTGTGTGCTACTGCTTTAATTGAGGACTTC ATAGCTTCTTGCCTGAATTTCCCCGACAATTTTATAGGTTTTCCTGTCTC TAGTTTTATGTGACTTTCTACATGACCATGAGCAAAATCTTTTAAAAGGA AAATGTGTTCATGTCCACCCCCCTGCTCAATGTTTTCCAATGCCTTCCCA TGGTAAAATTTCG	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17			chr10	TogoVar
PRKG1_chr10_51069487_52303350	51169656	T T	TATTTTCT others(582): Show TATTTTCTGCAATAGTACATGCTGTTTCCTGTTCTTACAAAGTATAGACT TTTCCTGACATAACTAGACTTCTGAACTAGCTTTCTGCCTCTTGTCTCTC TGTGTTTTATGTTATAAACTTTAGCCATGTAGTTCAATATTCTTGTAGAG AAATGACCACAAGGCTAAAAAACATAAATCCTGGGAGTTTATTCTATATC CATGCATTAAATGGCTATGTGACCAGATTGAAATGTTTGAGATAATACTC TGTACGTTACCTACTTTATTCCCCAACTTTGTGGATGACACCTCTTTTTC TCCCTAACATTTGCCTACATTAGAAACCCAGGAATTATTTCAAAAATCTG TTGCACAAATCCTATTCAGTCTATCAGGCTATCAAAATTATGTGTCCCTG TGTGCTACTGCTTTAATTGAGGACTTCATAGCTTCTTGCCTGAATTTCCC CGACAATTTTATAGGTTTTCCTGTCTCTAGTTTTATGTGACTTTCTACAT GACCATGAGCAAAATCTTTTAAAAGGAAAATGTGTTCATGTCCACCCCCC TGCTCAATGTTTTCCAATGCCTTCCCATGGTAAAATTTCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp2 HG02886.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0008 a0001c0001t0008g0027 a0001c0001t0003g0008 a0001c0001t0008g0027	2	54	0.0370	589	c.478 others(608): Show c.478+16326_478+16327insATTTTCTGCAATAGTACATGCTGTTT CCTGTTCTTACAAAGTATAGACTTTTCCTGACATAACTAGACTTCTGAAC TAGCTTTCTGCCTCTTGTCTCTCTGTGTTTTATGTTATAAACTTTAGCCA TGTAGTTCAATATTCTTGTAGAGAAATGACCACAAGGCTAAAAAACATAA ATCCTGGGAGTTTATTCTATATCCATGCATTAAATGGCTATGTGACCAGA TTGAAATGTTTGAGATAATACTCTGTACGTTACCTACTTTATTCCCCAAC TTTGTGGATGACACCTCTTTTTCTCCCTAACATTTGCCTACATTAGAAAC CCAGGAATTATTTCAAAAATCTGTTGCACAAATCCTATTCAGTCTATCAG GCTATCAAAATTATGTGTCCCTGTGTGCTACTGCTTTAATTGAGGACTTC ATAGCTTCTTGCCTGAATTTCCCCGACAATTTTATAGGTTTTCCTGTCTC TAGTTTTATGTGACTTTCTACATGACCATGAGCAAAATCTTTTAAAAGGA AAATGTGTTCATGTCCACCCCCCTGCTCAATGTTTTCCAATGCCTTCCCA TGGTAAAATTTCG	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17			chr10	TogoVar
RAB7B_chr1_205971740_206008395	205973119	C C	CACATACC others(582): Show CACATACCACACTGCACACCACACACACACACCATATGCATACCCCACAT ACCACACTGCACACCACACACACAGCACACCATGCACACACACACCCTTC ACACCATGCACACACACACACCCTTCACACTGCACACCACACACACACAC CACGCATGCACACACTACATACCACACTGCACACCACACACACATCACAC CATGCACACACACACACCCTTCACACTGCACACCACACACACACTACTCC ACACAAACACCACAAATGCACACACCACATTTCACACCGCACACCACACA CACAAAACACACACACCACACATGCACACACCACATTCCACACCACACAC CACACATACACACACACATAACACACATGCACACACCACATACCACACCA CACACACACACCATATGCATACCCCACATACCACACTGCACACCACACAC ACACACCATATGCATACCCCACATACCACACTGCACACCACACACACAGC ACACCATGCACACACACACCCTTCACACCATGCACACACACACACCCTTC ACACTGCACACCACACACACACACCACGCATGCACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 NA20752.hp2 HG00099.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0083 a0001c0001t0007g0171 a0001c0001t0007g0083 a0001c0001t0007g0171	2	56	0.0357	589	c.57 others(600): Show c.5731_*5732insAGTGTGTGCATGCGTGGTGTGTGTGTGTGGTGTG CAGTGTGAAGGGTGTGTGTGTGTGCATGGTGTGAAGGGTGTGTGTGTGCA TGGTGTGCTGTGTGTGTGGTGTGCAGTGTGGTATGTGGGGTATGCATATG GTGTGTGTGTGTGGTGTGCAGTGTGGTATGTGGGGTATGCATATGGTGTG TGTGTGTGGTGTGGTATGTGGTGTGTGCATGTGTGTTATGTGTGTGTGTA TGTGTGGTGTGTGGTGTGGAATGTGGTGTGTGCATGTGTGGTGTGTGTGT TTTGTGTGTGTGGTGTGCGGTGTGAAATGTGGTGTGTGCATTTGTGGTGT TTGTGTGGAGTAGTGTGTGTGTGGTGTGCAGTGTGAAGGGTGTGTGTGTG TGCATGGTGTGATGTGTGTGTGGTGTGCAGTGTGGTATGTAGTGTGTGCA TGCGTGGTGTGTGTGTGTGGTGTGCAGTGTGAAGGGTGTGTGTGTGTGCA TGGTGTGAAGGGTGTGTGTGTGCATGGTGTGCTGTGTGTGTGGTGTGCAG TGTGGTATGTGGGGTATGCATATGGTGTGTGTGTGTGGTGTGCAGTGTGG TATGT	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding		3620		chr1	TogoVar
RAB7B_chr1_205971740_206008395	205973119	C C	CACATACC others(582): Show CACATACCACACTGCACACCACACACACACACCATATGCATACCCCACAT ACCACACTGCACACCACACACACAGCACACCATGCACACACACACCCTTC ACACCATGCACACACACACACCCTTCACACTGCACACCACACACACACAC CACGCATGCACACACTACATACCACACTGCACACCACACACACATCACAC CATGCACACACACACACCCTTCACACTGCACACCACACACACACTACTCC ACACAAACACCACAAATGCACACACCACATTTCACACCGCACACCACACA CACAAAACACACACACCACACATGCACACACCACATTCCACACCACACAC CACACATACACACACACATAACACACATGCACACACCACATACCAGACCA CACACACACACCATATGCATACCCCACATACCACACTGCACACCACACAC ACACACCATATGCATACCCCACATACCACACTGCACACCACACACACAGC ACACCATGCACACACACACCCTTCACACCATGCACACACACACACCCTTC ACACTGCACACCACACACACACACCACGCATGCACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02809.hp1 others(3): Show HG02145.hp1 HG02717.hp1 HG02809.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0007 a0001c0001t0009 a0001c0006t0007 a0001c0001t0007 a0001c0001t0009 a0001c0006t0007	a0001c0001t0007g0057 a0001c0001t0007g0065 a0001c0001t0009g0034 others(3): Show a0001c0001t0007g0057 a0001c0001t0007g0065 a0001c0001t0009g0034 a0001c0001t0009g0105 a0001c0001t0009g0135 a0001c0006t0007g0070	6	60	0.1000	589	c.57 others(600): Show c.5731_*5732insAGTGTGTGCATGCGTGGTGTGTGTGTGTGGTGTG CAGTGTGAAGGGTGTGTGTGTGTGCATGGTGTGAAGGGTGTGTGTGTGCA TGGTGTGCTGTGTGTGTGGTGTGCAGTGTGGTATGTGGGGTATGCATATG GTGTGTGTGTGTGGTGTGCAGTGTGGTATGTGGGGTATGCATATGGTGTG TGTGTGTGGTCTGGTATGTGGTGTGTGCATGTGTGTTATGTGTGTGTGTA TGTGTGGTGTGTGGTGTGGAATGTGGTGTGTGCATGTGTGGTGTGTGTGT TTTGTGTGTGTGGTGTGCGGTGTGAAATGTGGTGTGTGCATTTGTGGTGT TTGTGTGGAGTAGTGTGTGTGTGGTGTGCAGTGTGAAGGGTGTGTGTGTG TGCATGGTGTGATGTGTGTGTGGTGTGCAGTGTGGTATGTAGTGTGTGCA TGCGTGGTGTGTGTGTGTGGTGTGCAGTGTGAAGGGTGTGTGTGTGTGCA TGGTGTGAAGGGTGTGTGTGTGCATGGTGTGCTGTGTGTGTGGTGTGCAG TGTGGTATGTGGGGTATGCATATGGTGTGTGTGTGTGGTGTGCAGTGTGG TATGT	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding		3620		chr1	TogoVar
RAC2_chr22_37220270_37249269	37227454	G G	GCCCTCCT others(582): Show GCCCTCCTGTGCCATACACACCCCTCCCACGCCATACACCCCCCTCCCAC GCCTCCCACACCATACACCCCTCCCACACCATACACCCCTCCCACGCCTC CCACACCATACAAGCCCTCCCGTGCCATACACCCCTCCCACAGCATATAA CCCCTCCCACGCCATAAAACCCCTCTCACACCATACACCCCCCTCCCACA CCTCCCACGCCATACAACCCCTCTCACACCATACACCGCTCCCATGCCAT ACACCCCTCCCACGCCTCCCACGCCATACAACCCTCCCATGACATACAGC CCCTCCTACGCCATACAACCCCTCCTGTGCCATACACCCCTCCCACGTCA TACACCCCCTCCCACGTCATACATCCCCTCCCATGCCTCCCACACCATAC AACCCCTCCCACGCCATACACCCCTCCCACGCCATACACCCCTCCCACGC CATACACCCTCCCATGCCATACACCCCTCCCATGCCATACACCCCTCCCA CGCCATACACCCCTCCCACGCCATACACCCTCCCATGCCATACACCCCTC CCATGCCATACATCCCTCCCACGCCTCCCATGCCATACAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	9	0.1111	589	c.449 others(604): Show c.449-652_449-651insGTGTATGGCATGGGAGGCGTGGGAGGGATG TATGGCATGGGAGGGGTGTATGGCATGGGAGGGTGTATGGCGTGGGAGGG GTGTATGGCGTGGGAGGGGTGTATGGCATGGGAGGGGTGTATGGCATGGG AGGGTGTATGGCGTGGGAGGGGTGTATGGCGTGGGAGGGGTGTATGGCGT GGGAGGGGTTGTATGGTGTGGGAGGCATGGGAGGGGATGTATGACGTGGG AGGGGGTGTATGACGTGGGAGGGGTGTATGGCACAGGAGGGGTTGTATGG CGTAGGAGGGGCTGTATGTCATGGGAGGGTTGTATGGCGTGGGAGGCGTG GGAGGGGTGTATGGCATGGGAGCGGTGTATGGTGTGAGAGGGGTTGTATG GCGTGGGAGGTGTGGGAGGGGGGTGTATGGTGTGAGAGGGGTTTTATGGC GTGGGAGGGGTTATATGCTGTGGGAGGGGTGTATGGCACGGGAGGGCTTG TATGGTGTGGGAGGCGTGGGAGGGGTGTATGGTGTGGGAGGGGTGTATGG TGTGGGAGGCGTGGGAGGGGGGTGTATGGCGTGGGAGGGGTGTGTATGGC ACAGGAGGG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RTN1_chr14_59590983_59875776	59750547	T T	TATATATA others(582): Show TATATATATCTATAATATATATAATATATCTATAATATATAATATATCTA TAATATATATATTATATCTATAATATATAATATATCTATAATATATATAT TATATCTATAATATATAATATATCTATAATATATATATTATATCTATAAT ATATATCTATAATATATATATTATATCTATAATATATAATATATCTATAA TATATATATTATATCTATAATATATAATATATCTATAATATATATATTAT ATCTATAATATATAATATATCTATAATATATATATTATATCTATAATATA TAATATATCTATAATATATAATATATCTATAATATATATATTATATATAT AATATATAATATATTATATATATAATATATAATATATTATATATATAATA TATAATATATTATATCTATAATATATTATATGTAATATATATATGTTATA TCTATAATATATATTATATCTATAATATATATTATATCTATAATATATAA TATATTATATCTATAATATATAATATATTATATCTATAAATATAATATAT TATATCTATAATATATAATATATTATATCTATAATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19082.hp2 NA18984.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0093 a0001c0001t0001g0064 a0001c0001t0001g0093	2	140	0.0143	589	c.242 others(606): Show c.242-4067_242-4066insTATATATTATAGATATAATATATTATAT ATTATAGATATAATATATTATATTTATAGATATAATATATTATATATTAT AGATATAATATATTATATATTATAGATATAATATATATTATAGATATAAT ATATATTATAGATATAACATATATATATTACATATAATATATTATAGATA TAATATATTATATATTATATATATAATATATTATATATTATATATATAAT ATATTATATATTATATATATAATATATATATTATAGATATATTATATATT ATAGATATATTATATATTATAGATATAATATATATATTATAGATATATTA TATATTATAGATATAATATATATATTATAGATATATTATATATTATAGAT ATAATATATATATTATAGATATATTATATATTATAGATATAATATATATA TTATAGATATATATTATAGATATAATATATATATTATAGATATATTATAT ATTATAGATATAATATATATATTATAGATATATTATATATTATAGATATA ATATATATATTATAGATATATTATATATTATAGATATATTATATATATTA TAGATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SAMD11_chr1_918923_949574	934189	G G	GCGTTACA others(582): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACTGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0164 a0001c0001t0003g0165	2	398	0.0050	589	c.843 others(606): Show c.843-1569_843-1568insGGGGGAGGCGGCTGCGTTACTGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934213	G G	GGCTGCGT others(582): Show GGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGG GAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	417	0.0024	589	c.843 others(606): Show c.843-1556_843-1555insGCGTTACTGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGGGGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(582): Show GAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAG GGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAGAGGAGGAGG AGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGATGCC AGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAG GAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGG AGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCA CAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00642.hp2 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0025 a0001c0002t0001g0044 a0001c0001t0001g0025 a0001c0002t0001g0044	2	150	0.0133	589	c.-12 others(608): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(582): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AATACAGTATTTATTTATAAATACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0039 a0001c0002t0012g0039	1	182	0.0055	589	c.632 others(606): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(582): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGA TGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGG TGGTATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGGATGG ATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATG GATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGATGGA TGGGGGATGGATGGATGGATGGGTGGGATGGATGGGTGGGATGGATGGAT GGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGAT GGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG02622.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0034 a0001c0001t0001g0047	2	3	0.6667	589	c.198 others(608): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGTATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGG ATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGG GATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGA TGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGGTGGGATGGAT GGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGGGTGGATG GATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3C_chr7_80737538_80924051	80863886	T T	TGTATGTG others(582): Show TGTATGTGATATGTGATATATATATCACATATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATGTATCACATACATATGT ATCACATACATATGTATCACATACATATGTATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATGTATCACATACATATGT ATCACATACATATGTATCACATACATATGTATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATGTATCACATACATATGT ATCACATACATATGTATCACATACATATGTATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATCACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	237	0.0042	589	c.104 others(608): Show c.104-35142_104-35141insGTGTGTGATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATA CATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATA CATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATA CATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATATGTGATATATATATC ACATATCACATAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SHANK1_chr19_50654255_50724802	50678865	G G	GATGGGGA others(582): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0233 a0001c0003t0008g0233	1	206	0.0049	589	c.257 others(608): Show c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACAC CCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCT TCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCACCCCTCCCCACA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC CCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACC CTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC ACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCT GACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678865	G G	GATGGGGA others(582): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG AGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0193 a0001c0003t0004g0193	1	206	0.0049	589	c.257 others(608): Show c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCA TCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACAC CCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCT TCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCACCCCTCCCCACA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC CCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACC CTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC ACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCT GACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(582): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTATATATA CATATAAAATATATATACATATGTTTTATATGTATATATATACATATAAA ATATATATACATATAAAATATATACATATAAAATATATATGTTTTATATG TATATATACATATAAAATATATATACATATGTTTTATATGTATATATATA CATATAAAACATATATACATATGTTTTATATGTGTATATATACATAGAAA ATATATATAATATATATACATATGTTTTATATGTATATATATACATAGAA AATATATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01070.hp2 others(20): Show HG00438.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02027.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 NA18612.hp1 NA18947.hp2 NA18956.hp1 NA18981.hp1 NA18994.hp2 NA18998.hp1 NA19064.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0137 others(17): Show a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136	23	180	0.1278	589	c.626 others(606): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTATATATACATA TAAAATATATATACATATGTTTTATATGTATATATATACATATAAAATAT ATATACATATAAAATATATACATATAAAATATATATGTTTTATATGTATA TATACATATAAAATATATATACATATGTTTTATATGTATATATATACATA TAAAACATATATACATATGTTTTATATGTGTATATATACATAGAAAATAT ATATAATATATATACATATGTTTTATATGTATATATATACATAGAAAATA TATATACATATGTTTTATATGTATATATATACATAGAAAATATATATACA TATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(582): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAA TATATATAATATATATATTATATATATTATATATATTATATATAATATAA ATATTATATATATTATATATAATATATATAATATAAATATATTATATATA ATATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	132	0.0076	589	c.-70 others(606): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATATTATATATAATATATTTATATTATATATATTATATATAA TATATATAATATTTATATTATATATAATATATATAATATATATAATATAT ATATTATATATATTATATATAATATATATATTATATATATTATATATAAT ATATTTATATTATATATTATATATAATATATTTATATTATATATTATATA TAATATATTTATATTTATATAATATATAATATATTTATATTTATATATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAAT ATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(582): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATATTATAATATATAATA TATAATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATAATATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAAAATATTATATTTTATAATATATAAAATATTATATTTTATAA TATATAAAATATATTATATTTTATAATATATAAAATATATTATATTTTAT AATATATAATATATATTATATTTTATAATATATAATATATATTATATTTT ATAATATATAATATATATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	161	0.0062	589	c.17 others(608): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAATATATTATAT ATTATAATATATAATATATTATATATTATAATATATAATATATTATATAT TATAATATATTATATATTATATATTATAATATATAATATATTATATATTA TAAAATATAATATATTATATATTATAAAATATAATATATTATATATTATA AAATATAATATATTATATATTATAAAATATAATATATTATATATTATAAA ATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAAT ATAATATATATTATATATTATAAAATATAATATATATTATATATTATAAT ATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCTGAGA others(582): Show ACCTGAGAGGAGACACCAAACCCACACAACACACACCCACCGGAGAGGAG ACATCAAACCCATACCCACCCTAGAAGAGACACCAAACTCACACCCCACC CGAGAGGAGACACCAAACCACACCCCACCCGAGAGGAGACACCAAACCCA CACCCACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACA CCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGA GAGGAGACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACC CAACCTATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAG AGGAGACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACA CAACCGACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAG GAAACACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCA CCTGAGAGGAAACACCAAACCCACACCCTACCAGAGAGGAGACACCAAAA CCCACATCCACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0194 a0001c0004t0001g0194	1	214	0.0047	589	c.309 others(608): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGT GGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTC CTCTGGGGTGGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGGTTT GGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTCTTCTAGGGTGGG TATGGGTTTGATGTCTCCTCTCCGGTGGGTGTGTGTTGTGTGGGTTTGGT GTCTCCTCTCAGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62057603	C C	CCAGCAAG others(582): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTC AGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGAC AATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACA GGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGC AAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAAT GGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGG TCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAG ACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGG GCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTA CACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0006 a0006c0011t0001g0006	1	220	0.0045	589	c.136 others(608): Show c.1360+6847_1360+6848insAGGTTGGCCCCCCGAGCCCCATTGTC TGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAG GTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGGCCTGTGTCC GTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTG GCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTG GCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTC CTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGC CTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGC CCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTT CCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCTG GTGTGTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCC CCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCC TGAGGTCTTGCTG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TERT_chr5_1248167_1300068	1273309	C C	CACGACCG others(582): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCGGGACC AACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAG ACCCCACGACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCACCATCCACAGTCACCACACATCAGACCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	339	0.0029	589	c.228 others(608): Show c.2287-1030_2287-1029insAGGGTCTGATGTGTGGTGACTGTGGA TGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMPRSS2_chr21_41459305_41513158	41475639	A A	AGTGAGGG others(582): Show AGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAAGGCGTGAGTGAGGGGG TAAGGGGATGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGTGAGGGGGTGA GTGAGGGGGCGAGGGGGTGAGTGAGGAGGCGAGCGGGTGAGTGAGGAGGT GAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGA GTGAGGAGGTGAGGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGGGGC GAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGGTGA GTGAGGAGGTGAGGGGGTGACTGAGGAGGTGAGGGGGTGAGTGAGGGGGT GAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGCGAGGGGGTGA GTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGT GAGGGGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGA GTGAGGGGGTGCAGGGGTGAGTGAGGGGGTGAGGGGTGAATGAGGGGTTG AGTAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	280	0.0036	589	c.727 others(604): Show c.727+937_727+938insCTCCTCACTCACCCCCTCACCTCCTCACTC ACCCCCTACTCAACCCCTCATTCACCCCTCACCCCCTCACTCACCCCTGC ACCCCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCAC TCAACCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCGCTC ACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTCACCCCCTCAC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAGTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCGCTCACCTCCTCAC TCACCCCCTCGCCCCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCGCTCGCCTCCTCACTCACCCCCTC GCCCCCTCACTCACCCCCTCACCCCCTCACTCACCCCTCACCCCCTCACT CATCCCCTTACCCCCTCACTCACGCCTTCACCCCCTCACCCCCTCACTCA CCCCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41475639	A A	AGTGAGGG others(582): Show AGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAAGGCGTGAGTGAGGGGG TAAGGGGATGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGTGAGGGGGTGA GTGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGAGGT GAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGA GTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGC GAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGGTGA GTGAGGAGGTGAGGGGGTGACTGAGGAGGTGAGGGGGTGAGTGAGGGGGT GAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGCGAGGGGGTGA GTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGT GAGGGGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGA GTGAGGGGGTGCAGGGGTGAGTGAGGGGGTGAGGGGTGAATGAGGGGTTG AGTAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01123.hp1 HG02129.hp2 others(13): Show HG01070.hp1 HG01123.hp1 HG02129.hp2 HG02683.hp2 HG03654.hp2 HG03831.hp1 HG04184.hp1 NA18952.hp1 NA18953.hp2 NA18961.hp2 NA18970.hp2 NA18974.hp2 NA18983.hp2 NA18995.hp2 NA19007.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0025 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0238 a0001c0001t0001g0292 a0001c0001t0001g0300 a0001c0001t0001g0347 a0001c0001t0001g0353 a0001c0001t0001g0366 a0001c0001t0016g0312	16	295	0.0542	589	c.727 others(604): Show c.727+937_727+938insCTCCTCACTCACCCCCTCACCTCCTCACTC ACCCCCTACTCAACCCCTCATTCACCCCTCACCCCCTCACTCACCCCTGC ACCCCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCAC TCAACCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCGCTC ACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTCACCCCCTCAC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAGTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCGCTCACCTCCTCAC TCACCCCCTCGCCCCCTCACTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCGCTCACCTCCTCACTCACCCCCTC GCCCCCTCACTCACCCCCTCACCCCCTCACTCACCCCTCACCCCCTCACT CATCCCCTTACCCCCTCACTCACGCCTTCACCCCCTCACCCCCTCACTCA CCCCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TOX_chr8_58800412_59124147	59092264	T T	TATATATA others(582): Show TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATACATTATATATACATTATATATATTATACATTATATA TACATTATATATATTATACATTATATATACATTATATATATTATACATTA TATATACATTATATATATTATACATTATATATACATTATATATATTATAC ATTATATATACATTATATATATTATACATTATATATACATTATATATATT ATATATACATTATATATACATTATATATATTATATATACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02055.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0064 a0001c0001t0003g0063 a0001c0001t0002g0064 a0001c0001t0003g0063	2	215	0.0093	589	c.102 others(608): Show c.102+26621_102+26622insTGTATATATAATATATATAATGTATA TATAATGTATATATAATATATATAATGTATATATAATGTATAATATATAT AATGTATATATAATGTATAATATATATAATGTATATATAATGTATAATAT ATATAATGTATATATAATGTATAATATATATAATGTATATATAATGTATA ATATATATAATGTATATATAATGTATAATATATATAATGTATATATAATG TATAATATATATAATGTATATATAATATATAATATATATAATGTATATAT AATATATAATATATATAATGTATATATAATATATAATATATATAATGTAT ATATAATATATAATATATATAATGTATATATAATATATAATATATATAAT GTATATATAATATATAATATATATAATGTATATATAATATATAATATATA TAATGTATATATAATATATAATATATATAATGTATATATAATATATAATA TATATAATGTATATATAATATATAATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATAT	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TPO_chr2_1408463_1548673	1533588	C C	CCCACTCT others(582): Show CCCACTCTGTGCAACCTCCCCTATCCCTCCCACTGTGTGCAACCGCCCCA AATCCCCCAACTATATGCAACCTACTCAAATCCCCCCACTGTGTGCAACC TCCCCAAAACCCCCACTGTGAGCAACCTCCCCAAATCCCCTCACTGTGTA ACCTCTCCAAATCCCCTCACTGTGTAACCTCCCAAAATACCCCCCGTGAG CAACCTCCCCAAATCCCCGCACTGTGTGCAACCACCCCAAATCCCCCCCA CTGTGTGCAACCTCCTCAAATCCTCCGCCACTGTGAGCAACCTCCTCAAA TACCCCACTGTGTGCAACCTCCTCAAATCCCCCCATCTGTGTGCGACCTC CCCAAATCCTCCCAGTGTGTGCAACTTCCCTAAATCCCTCCAACTGTGTT TAGCTTCCCCAAATACCAACTGTGTGCAACCTCCTCACATCCCCACCACT CTGTGCAACCTCTCCAAGTCACCCCTACTCTCTGCAGACTCCCCAAATCC CCCCCCAATCTGTGCAACCTCCCCAAATCCCACCCAATTGTGGGCAACCA CACAAAATCCCGCCACTGTGTGCAACCTCACCAAATTTCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0076 a0004c0007t0004g0076	1	128	0.0078	589	c.261 others(608): Show c.2619-7004_2619-7003insACTCTGTGCAACCTCCCCTATCCCTC CCACTGTGTGCAACCGCCCCAAATCCCCCAACTATATGCAACCTACTCAA ATCCCCCCACTGTGTGCAACCTCCCCAAAACCCCCACTGTGAGCAACCTC CCCAAATCCCCTCACTGTGTAACCTCTCCAAATCCCCTCACTGTGTAACC TCCCAAAATACCCCCCGTGAGCAACCTCCCCAAATCCCCGCACTGTGTGC AACCACCCCAAATCCCCCCCACTGTGTGCAACCTCCTCAAATCCTCCGCC ACTGTGAGCAACCTCCTCAAATACCCCACTGTGTGCAACCTCCTCAAATC CCCCCATCTGTGTGCGACCTCCCCAAATCCTCCCAGTGTGTGCAACTTCC CTAAATCCCTCCAACTGTGTTTAGCTTCCCCAAATACCAACTGTGTGCAA CCTCCTCACATCCCCACCACTCTGTGCAACCTCTCCAAGTCACCCCTACT CTCTGCAGACTCCCCAAATCCCCCCCCAATCTGTGCAACCTCCCCAAATC CCACCCAATTGTGGGCAACCACACAAAATCCCGCCACTGTGTGCAACCTC ACCAAATTTCTCC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(582): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGGTGATATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0114 a0001c0002t0006g0114	1	98	0.0102	589	c.41- others(606): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGGTGATATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(582): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCTCCC TTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCT CCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0002 a0019c0019t0002	a0019c0019t0002g0135 a0019c0019t0002g0135	1	8	0.1250	589	c.657 others(604): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTC CTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCT CTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTC CTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(582): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCC CCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTC CCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTC CTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCC CTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCC TTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCT CCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	8	0.1250	589	c.657 others(604): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCC CCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTC TTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCT CCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCT TCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCT CTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTC CTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(582): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	8	0.1250	589	c.657 others(604): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCC TTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTTT CTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(582): Show AATATATATAATATATATAATATATAATATAATATAATGCAATATATAAT AATTATATAATATAATATATAATATATAATATATATTATATATAATATAT AATATATAATATATATTATATATAATAATATAATATATAATATACATTAT ATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATATA TTATATAATAATAATATAAGATATATTATATAATTAATATAATATATAAT ATATATTATATAATAATAATATAAGATATATTATATAATTAATATAATAT ATAATATATATTATATAATTAATATAATATATAATATATATTATATAATA ATAATATAATATATATAATAATTATATAATATAGTATATAATATATATTA TATAATAATAATATAATATATATAATAATTATATAATATTAGAATATATA TTATACAATAATAATATAATATATATTATACAATAATAATATAATATATA TATAATTATATAATATAATATATATAATAATAATATAATATAATATATAA TATATATTATATAGTAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	12	0.0833	589	c.55+ others(604): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATACTATATTATATAATTATTATATAT ATTATATTATTATTATATAATATATATTATATATTATATTAATTATATAA TATATATTATATATTATATTAATTATATAATATATCTTATATTATTATTA TATAATATATATTATATATTATATTAATTATATAATATATCTTATATTAT TATTATATAATATATGTTATATATTACATTATTATTATATAATATACATT ATATTATTATATAATGTATATTATATATTATATTATTATATATAATATAT ATTATATATTATATATTATATATAATATATATTATATATTATATATTATA TTATATAATTATTATATATTGCATTATATTATATTATATATTATATATAT TATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(582): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATATTATATAATTAATATAATATATAATATATATTATATAA TTAATATAATATATATAATAATTATATAATATAGTATATAATATATATTA TATAATAATAATATAATATATATAATAATTATATAATATTAGAATATATA TTATACAATAATAATATAATATATATTATACAATAATAATATAATATATA TATAATTATATAATATAATATATATAATAATAATATAATATAATATATAA TATATATTATATAGTAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp1 HG02615.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0061 a0001c0001t0007g0060 a0001c0001t0001g0061 a0001c0001t0007g0060	2	13	0.1538	589	c.55+ others(604): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATACTATATTATATAATTATTATATAT ATTATATTAATTATATAATATATATTATATATTATATTAATTATATAATA TATATTATATATTATATTAATTATATAATATATCTTATATTATTATTATA TAATATATATTATATATTATATTAATTATATAATATATCTTATATTATTA TTATATAATATATGTTATATATTACATTATTATTATATAATATACATTAT ATTATTATATAATGTATATTATATATTATATTATTATATATAATATATAT TATATATTATATATTATATATAATATATATTATATATTATATATTATATT ATATAATTATTATATATTGCATTATATTATATTATATATATTATATATAT TATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(582): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATTATATAATTAATATAATATATAATATATATTATATAATA ATAATATAATATATATAATAATTATATAATATAGTATATAATATATATTA TATAATAATAATATAATATATATAATAATTATATAATATTAGAATATATA TTATACAATAATAATATAATATATATTATACAATAATAATATAATATATA TATAATTATATAATATAATATATATAATAATAATATAATATAATATATAA TATATATTATATAGTAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	12	0.0833	589	c.55+ others(604): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATACTATATTATATAATTATTATATAT ATTATATTATTATTATATAATATATATTATATATTATATTAATTATATAA TATATTATATATTATATTAATTATATAATATATCTTATATTATTATTATA TAATATATATTATATATTATATTAATTATATAATATATCTTATATTATTA TTATATAATATATGTTATATATTACATTATTATTATATAATATACATTAT ATTATTATATAATGTATATTATATATTATATTATTATATATAATATATAT TATATATTATATATTATATATAATATATATTATATATTATATATTATATT ATATAATTATTATATATTGCATTATATTATATTATATATATTATATATAT TATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
YBEY_chr21_46281342_46302751	46292556	G G	GCAAGTTA others(582): Show GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCA AGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCC GGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGG ACTGAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTT GGTTAGCCTGACCCATGCCCGGGACTGAGTGGGGACAGCCACACAAGTTA GACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	197	0.0051	589	c.339 others(606): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCA GTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTGAGT GGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCATGCCCGGGACTGAGTGGGGACAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTGAGTGGGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292638	A A	AACTCTAG others(582): Show AACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0376 a0001c0001t0001g0376	1	334	0.0030	589	c.339 others(606): Show c.339+1196_339+1197insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACACAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292693	G G	GAGTCAGC others(582): Show GAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0320	1	380	0.0026	589	c.339 others(606): Show c.339+1231_339+1232insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACG CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCC CGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(582): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATCATATCACATATCACATATCACATATCACATATCACATA TCATATGATATATATCACATGTGATATATAGCATATGTGATATATATCAT ATATATCACATGTGATATATAGCATATGTGATATATATCATATATATCAC ATGTGCTATATAGCATATGTGATATATATCATATATATCACATATGCTAT ATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCATAC GTGATATATATCATATATATCATATATGATGTATAGCATGATATATATGC TATATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCA TATATATCACATGTGATATATAGCATATGTGATATATATGATATATGTGA TATATATCATATGTGATATATATGATATATATCACATATATATGATATAT ATCACATATATATCATATATATCATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	243	0.0041	589	c.-34 others(600): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATCATATCACATATCACATATCACAT ATCACATATCACATATCATATGATATATATCACATGTGATATATAGCATA TGTGATATATATCATATATATCACATGTGATATATAGCATATGTGATATA TATCATATATATCACATGTGCTATATAGCATATGTGATATATATCATATA TATCACATATGCTATATAGCATATGTGATATATATCATATATATCACATA TGCTATATAGCATACGTGATATATATCATATATATCATATATGATGTATA GCATGATATATATGCTATATATCACATGTGATATATAGCATATATATCAC ATGTGATATATAGCATATATATCACATGTGATATATAGCATATGTGATAT ATATGATATATGTGATATATATCATATGTGATATATATGATATATATCAC ATATATATGATATATATCACATATATATCATATATATCATATATATCATA TATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(582): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCTC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCT CCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCC GCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCTCTCCACC ACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGC GCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCA CCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCCGCGCC GCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCA ACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0208 a0001c0011t0004g0208	1	37	0.0270	589	c.181 others(610): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGGTGTGGTTGGTGGAGAGATGGAGC GCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGG TGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGG GTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGA GGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGG TGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAG AGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(582): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCTC TCCACCACCAACCACACCCTCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCT CCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCC GCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCTCTCCACC ACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGC GCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCA CCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCG CACCCCTCCACCACCAACCACACCCCCCGCGCCGCACCCCTCCACCACCA ACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0063	a0001c0004t0063g0128 a0001c0004t0063g0128	1	37	0.0270	589	c.181 others(610): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGGTGTGGT TGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGC GCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGG TGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGG GTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGA GGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGAGGG TGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAG AGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(583): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGC TGGACGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	238	0.0042	590	c.361 others(609): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGA CGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAP3_chr1_1287391_1312930	1288867	T T	TCCCGTGT others(583): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGA GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	259	0.0039	590	c.46 others(601): Show c.4696_*4697insGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCA GGGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGACGGGGCAGGGACACGGGACGGGGCAGAGACACGGGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGA CTCGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGAC GGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACTCGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3523		chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(583): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCG CCCACCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCC ACCCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCAC CCACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATC CACTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0095 a0002c0002t0003g0095	1	7	0.1429	590	c.775 others(605): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGAT GGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGG ATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGT GGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGG ATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGT GGGTGGGTGGTGGAACGGTGGGTGAATGGATGGGTTGATAAATGGGTGGG CGAATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGG ATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(583): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAGGAGGAGGGGGGAGGAGGG GGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGG GGGGAGGAGGAGGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGA GGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGG AGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGG GAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0008 a0001c0001t0012g0008	1	183	0.0055	590	c.125 others(611): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCT CCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCC TCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTC CTCCTCCCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTC CTCCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC CCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCC TCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCC CTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCC CCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTC CCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AP3D1_chr19_2095988_2156566	2129023	C C	CCCCCACA others(583): Show CCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCT CCGACACTGCACCCCGTGGAGCCGGCCCACCCCACAGCTCCGACACTGCA CCCCGTGGAGCCGGCCCACCCCACAGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC CACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGA CACTGCACCCCGTGGAGCCGGCCCGCCCCCACAGCTCCGACACTGCACCC CGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGG CCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCAC AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCACAGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	396	0.0025	590	c.806 others(603): Show c.806+66_806+67insCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGC TGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGGCGG GCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCAC GGGGTGCAGTGTCGGAGCTGTGGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGC GGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCC GGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTC GGAGCTGTGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGG GGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGTGGGCCGGC TCCACGGGGTGCAGTGTCGGAGCTGTGGGGTGGGCCGGCTCCACGGGGTG CAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAG CTGTGGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP19_chr10_97217179_97297637	97251448	G G	GGAAGGGG others(583): Show GGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAG GCAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAGGGGAAGGG GAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAGG GAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGG GGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGTGG AAGGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAA AGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGA AGGGGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAGGGAAGAGAA AGGAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAAAAGGAG AAGAAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGA GGGGAAAGGAAGGAAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAGAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	224	0.0045	590	c.927 others(607): Show c.927+4869_927+4870insATCTTCCCCTTCCCTTTCCCTTCCCCTC CCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTT CCTTCCTTTCCCCTCCCCCTTCCTTCCTTTCCCCTTCCCTTCCCCTCCCC TTCCCCTCTTCTTCTCCTTTTCCCTTCCCCTTCCCCTCCCCTTCTCCTTC CCTTCCCCTTCCTTTCTCTTCCCTTCCCCTTCCCTTCCCTTCCCCTTTCC TTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCCCTTTCCCCTTCCC CTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCC CTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCTTTCCCCTTCCCCT CCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTT TCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCC TCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCTTCCTT CCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTTTT CCCTTCCCCTTC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(583): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTATATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATACTATATATATAGTTTATATATATATAAACTATAT ATATAGTTTATATATATATACTATATATATAGTATATATATATAAACTAT ATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATA CTATATATATAGTATATATATATATAAACTATATATATAGTTTATATATA TATAAACTATATATATAGTTTATATATATATATACTATATATATAGTTTA TATATATATATATACTATATATATAGTTTATATATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATATATACTAT ATATATAGTTTATATATATATATACTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18955.hp2 NA19091.hp1 NA18947.hp2 NA18955.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0215 a0001c0001t0001g0253 a0001c0001t0009g0296 a0001c0001t0001g0215 a0001c0001t0001g0253 a0001c0001t0009g0296	3	166	0.0181	590	c.331 others(609): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATAAACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATATACTATATATATAGTATAT ATATATAAACTATATATATAGTTTATATATATATAAACTATATATATAGT ATATATATAAACTATATATATAGTATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATAGTATATATATACTATAT ATAGTATATATATATAAACTATATATAGTATATATATATAAACTATATAT ATAGTATATATAAACTATATATATAGTATATATATATAAACTATATATAT ATAAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(583): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTATATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATACTATATATATAGTTTATATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTATATATATATAAACTATAT ATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATATA CTATATATATAGTATATATATATATAAACTATATATATAGTTTATATATA TATAAACTATATATATAGTTTATATATATATATACTATATATATAGTTTA TATATATATATATACTATATATATAGTTTATATATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATATATACTAT ATATATAGTTTATATATATATATACTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18966.hp2 NA18995.hp2 HG04228.hp1 NA18966.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0246 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0246	3	166	0.0181	590	c.331 others(609): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATAT ATATATAAACTATATATATAGTTTATATATATATACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATAAACTATATATATAGT ATATATATAAACTATATATATAGTATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATAGTATATATATACTATAT ATAGTATATATATATAAACTATATATAGTATATATATATAAACTATATAT ATAGTATATATAAACTATATATATAGTATATATATATAAACTATATATAT ATAAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(583): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTATATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTATATATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTATATATATATAAACTAT ATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATA TACTATATATATAGTATATATATATATAAACTATATATATAGTTTATATA TATATAAACTATATATATAGTTTATATATATATATACTATATATATAGTT TATATATATATATATACTATATATATAGTATATATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATATATACTAT ATATATAGTTTATATATATATATACTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	164	0.0061	590	c.331 others(609): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATACTATATATATAGT ATATATATATATATAAACTATATATATAGTATATATATATATAAACTATA TATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAT ACTATATATATAGTATATATATATATAAACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATATACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATATATACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATAGTATATATATACTATAT ATAGTATATATATATAAACTATATATAGTATATATATATAAACTATATAT ATAGTATATATAAACTATATATATAGTATATATATATAAACTATATATAT ATAAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(583): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTATATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATAGTATATAT ATAGTTTATATATATACTATATATATAGTTTATATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTATATATATATAAACTATAT ATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATATA CTATATATATAGTATATATATATATAAACTATATATATAGTTTATATATA TATAAACTATATATATAGTTTATATATATATATACTATATATATAGTTTA TATATATATATATACTATATATATAGTTTATATATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATATATACTAT ATATATAGTTTATATATATATATACTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	164	0.0061	590	c.331 others(609): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATAT ATATATAAACTATATATATAGTTTATATATATATACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATAAACTATATATATAGT ATATATATAAACTATATATATACTATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATAGTATATATATACTATAT ATAGTATATATATATAAACTATATATAGTATATATATATAAACTATATAT ATAGTATATATAAACTATATATATAGTATATATATATAAACTATATATAT ATAAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(583): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACAGATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAT ACATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19088.hp1 NA18994.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0125 a0002c0002t0001g0032 a0002c0002t0001g0125	2	283	0.0071	590	c.366 others(607): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACACATATGTATACAGATCTG TATACACATATGTATACAGATATGTATACACATATGTATACAGATCTGTA TACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATACA TATGTATACAGATATGTATACAGATATGTATACACATATGTATACAGATA TGTATACACATATGTATACAGATATGTATACACATATGTATACAGATATG TATACACATATGTATATACAGATATGTATACACATATGTATATACAGATA TGTATACACATATGTATATACAGATATGTATACACATATGTATACAGATA TGTATACATATGTATACAGATCTGTATATACATATGTATACAGATATGTA TATACATATGTATACAGATATGTATACATATGTATACAGATATGTATATA CATATGTATACAGATATGTATATACAGATATGTATACAGATATGTATATA CAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar

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