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
FLT4_chr5_180596506_180654600	180635721	A A	AAGTATGG others(788): Show AAGTATGGGTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTAT GGGTGGATGGGTGGGTGGACGGATGGATGGATGAAGTATGGGTGGATGGG TGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGG TGGACGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATG CATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGA TGCATGGATGCATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGGTG GATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGAGTGGGTGGATGGA AGTATGGGTGGATGGGTGGGTGGATGGGTGGATGGATGCATGTATGGAAG TATGGATGGATGAGTGGATGGGTGGGTGGGTGGATGCATAGATGGATGGA AGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAAG TAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGATGGA TGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATG GAAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGA TGGATGGAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGTAGGTGGATG GATGCATGGATTGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG02895.hp1 others(4): Show HG02258.hp2 HG02630.hp1 HG02895.hp1 HG02970.hp1 HG03130.hp2 HG03225.hp1 NA19030.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0003 a0012c0016 a0001c0001 a0002c0003 a0012c0016	a0001c0001t0001 a0002c0003t0019 a0012c0016t0011 a0001c0001t0001 a0002c0003t0019 a0012c0016t0011	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 others(4): Show a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0002c0003t0019g0187 a0002c0003t0019g0249 a0012c0016t0011g0182	7	42	0.1667	795	c.59- others(810): Show c.59-3944_59-3943insCCCACCCACCCACCCACCCATCCACCCATA CTTCAATCCATGCATCCATCCACCTACCCACCCACCCATCCACCCATCCA CCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACC CATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCA TCCACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATC CACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCA CCCATCCACCCATACTTCCATCCATCTATGCATCCACCCACCCACCCATC CACTCATCCATCCATACTTCCATACATGCATCCATCCACCCATCCACCCA CCCATCCACCCATACTTCCATCCACCCACTCACCCACCCATCCACCCATA CTTCCATCCATCCATCCACCCACCCACCCACCCACCCATCCACCCATACT TCCATGCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCATA CTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCCATACTTCCA TCCATCCATCCGTCCACCCACCCATCCACCCATACTTCCATCCATCCATG CATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATCCATCCA TGCATCCACCCACCCACCCATCCACCCATACTTCATCCATCCATCCGTCC ACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACCCAC CCATCCACCCATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
IFFO2_chr1_18899280_18961676	18925808	T T	TTGGATGG others(788): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0034 a0001c0001t0038g0034	1	372	0.0027	795	c.666 others(812): Show c.666-4688_666-4687insTCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(788): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAAAG AAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAA CAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAG GAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGA GGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGG AGGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGG AAGGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAG GAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGG CAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0002 a0002c0029t0002	a0002c0029t0002g0074 a0002c0029t0002g0074	1	8	0.1250	795	c.507 others(814): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA GGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGA AGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGA GGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGA GGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGG AGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGG GAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAA GAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAA AGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGG AAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAG GGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGA AGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(788): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTG GGGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTAATGACGGT GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGG GGTGATGACGATGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGA TGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTG ATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGG GGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0070 a0070	a0070c0088 a0070c0088	a0070c0088t0001 a0070c0088t0001	a0070c0088t0001g0011 a0070c0088t0001g0011	1	31	0.0323	795	c.956 others(812): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCCCCACCC CCACCATCACCCCCACCATCATCACCTCTACCATCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCCC ACCATCATCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCACCGTCATTACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCATCATCA CCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACC CCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCC TCCACCCCCATCATCACCGTCATCACCCCCACCATCATCACCCCCAGCCC CACCGTCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCA CCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHFPL3_chr7_104323603_104913561	104824176	A A	ATATATAT others(788): Show ATATATATAATATATATATTATATATTATATATATAATATATATATTATA TATTATAATATATAATATATAATATATATTATATATATTATATATTATAT ATATAATATATTATATATTATATATATATTATATAATATATTATATATTA TATATATATTATATTATATATTATATATAATTATATATATTTTATATATT ATATATTATATATTATATATTATATATTATATATATTATATATTATATAT TATATATTATATATTATATATATTATATATTATATATTATATTTTATATA TATTATATATTATATATACAATTATATATATTATATATATTATATATTAT ATATATTATATATTATATAATATATTATATATAATATATATTATATATTA TATATTATATAATATATATATAATATATTATATATTATATATTATATAAT ATATTATATATAATATATATTATATATTATATATTATATAATATATAATA TATAATATATATTATATATATATTATATAATATATTATATATAATATATA TTATATATAATATATTATATAATATATTATATATATAATATATATTATAT ATAATATATATAATTGTATATATAATATATAATATATAATATATAATATA TATAATATATAATATATAATATATATAATATATAATATATAATATATAAT ATATATAATATATAATATATAATATATAATATATAATATATAATATATAA AATATATATATAAAATATATTATGTATTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	71	0.0141	795	c.683 others(814): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATAATATATAATATATAATATATATTATATATATTATAT ATTATATATATAATATATTATATATTATATATATATTATATAATATATTA TATATTATATATATATTATATTATATATTATATATAATTATATATATTTT ATATATTATATATTATATATTATATATTATATATTATATATATTATATAT TATATATTATATATTATATATTATATATATTATATATTATATATTATATT TTATATATATTATATATTATATATACAATTATATATATTATATATATTAT ATATTATATATATTATATATTATATAATATATTATATATAATATATATTA TATATTATATATTATATAATATATATATAATATATTATATATTATATATT ATATAATATATTATATATAATATATATTATATATTATATATTATATAATA TATAATATATAATATATATTATATATATATTATATAATATATTATATATA ATATATATTATATATAATATATTATATAATATATTATATATATAATATAT ATTATATATAATATATATAATTGTATATATAATATATAATATATAATATA TAATATATATAATATATAATATATAATATATATAATATATAATATATAAT ATATAATATATATAATATATAATATATAATATATAATATATAATATATAA TATATAAAATATATATATAAAATATATTATGTATTATATATTATATAATA TATTATATATAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471437	T T	TTATGTAT others(788): Show TTATGTATATATTTATATATATTTATATATATTTTATATATATTTATATA TATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATTA CATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATATA TTTTTTATATATTATATTTATATATATATTTATATATATTTATGTATATT TATATATATATTTATATATATTTATGTATATTTATATATATATTTATATA TATTTATGTATATTTATATATATTTATATATTTATGTATATATTTATATA TATTTATATATTTATGTATAAATTTATATATATTTATATGTATTTATATA TATATTTATATGTATTTATATATATTTATATATTTATATGTATTTATACA TATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATATTATTTATA TATATATTTATATATATTTATATATATTTATATATATTTATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	240	0.0042	795	c.125 others(812): Show c.125+9453_125+9454insGTATATATTTATATATATTTATATATAT TTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTTTTT ATATATTTATATATATTACATATATTTTTATATTTTATATATATTTATAT ATTTTATATATTTATATATTTTTTATATATTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATATTTATATATATTTATGTATATTTATATATATTTATATATT TATGTATATATTTATATATATTTATATATTTATGTATAAATTTATATATA TTTATATGTATTTATATATATATTTATATGTATTTATATATATTTATATA TTTATATGTATTTATACATATATATTTATATGTATTTATATATATTTATA TATATTTTTTATGTATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATATTATTTATATATATATTTATATATATTTATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATT TATATATATATTTATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGAGAGGG others(788): Show GGAGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGG AGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAG GGGGAGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGGGAGGGGGAGGGGG GGAGAGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGG GGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGGG GGGGAGGGGGGAGGGGGGGAGGGGGGAGGGGGGGAGGGGGGAGGGGGAGA GGGGGGAGGGGGGGAGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGGAG GGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGAGAGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGGA GAGGGGTGAGAGGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAG GGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGG GGAGGGGGAGGGGGGAGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGAGAG GGGGAGAGAGGGGGAGAGAGGGGGGAGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	12	0.0833	795	c.525 others(812): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCCT CTCTCCCCCTCTCTCCCCCTCTCTCCCCCCTCCCCCCTCCCCCTCCCCCC TCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCC CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCTCCCCC TCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCCCCCTCTCTCCCCCCT CTCCCCCTCTCACCCCTCTCCCCCCCTCTCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCC CCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCTCC CCCTCCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCCCTCCCCCCTC CCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCTCTCTCCCCCCTCCC CCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCC CCCCCTCTCCCCCTCTCCCCCCCTCCCCCTCCCCCCCTCTCCCCCTCTCC CCCTCCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTC CCCCTCTCCCCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(788): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CTTCCCTTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCCACCAC CCTCCCTCCTCCCTCTCCTCCCTTCTCCCTCCTCCTCTCCTCCCCTCTCC CTCCTCCCTCCTCTCTCCTCCCTCCCCTCTCCCTCCCTCCTCTCCCCCTC CCCCTCCCCTCCTCTCCTCCTCCCCTCCCCTCCTCTCCTCACTCCCTCTC CCCCCTCCCTCTCTCCCTCCCTCCTCTCCCTCCCCTCCCCTCTCTCCCTC TCCCCTCCCTCCTCTCTCCTCCCTCCCCTCCCTCCTCTCCTCTCCCCTCC CCTCTCGCTCCTCTTCTCCCCTCCTTCCTCTCCCTCCTCTCTCCTCCCCT CTCCCTCTCTCCGCTCCTCTCCCTCCCTTCCCTCTCCTCCCCTCCTCTCT CCTCCCTCCGCTCCCTCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCC CCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCC CCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCC GCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCC CCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCC CCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCC CCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	125	0.0080	795	c.-49 others(806): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGAGGG AGCGGAGGGAGGAGAGAGGAGGGGAGGAGAGGGAAGGGAGGGAGAGGAGC GGAGAGAGGGAGAGGGGAGGAGAGAGGAGGGAGAGGAAGGAGGGGAGAAG AGGAGCGAGAGGGGAGGGGAGAGGAGAGGAGGGAGGGGAGGGAGGAGAGA GGAGGGAGGGGAGAGGGAGAGAGGGGAGGGGAGGGAGAGGAGGGAGGGAG AGAGGGAGGGGGGAGAGGGAGTGAGGAGAGGAGGGGAGGGGAGGAGGAGA GGAGGGGAGGGGGAGGGGGAGAGGAGGGAGGGAGAGGGGAGGGAGGAGAG AGGAGGGAGGAGGGAGAGGGGAGGAGAGGAGGAGGGAGAAGGGAGGAGAG GGAGGAGGGAGGGTGGTGGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGA GGGGAAGGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGA GGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(788): Show GCCCTCCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCCT CCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC TCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCT CCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTT CCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCC CCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCT TCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCT CTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCC CTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCC CCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCC CCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTC CTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0033 a0001c0011t0002g0033	1	8	0.1250	795	c.115 others(812): Show c.1157+146_1157+147insCTCCCCTCCCCGTCCCCTCCCTTCCCCT CCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCT CCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCA TCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCG CCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCT CCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCT CCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTC TCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCC TCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCC CCTCCCCACCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(788): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCCTC CCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTC CCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCC CCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTT CCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTC TGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCC TCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCCTCCTCC CCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCC CCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTC CTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp2 NA18950.hp1 NA18950.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0100 a0002c0017t0002g0195 a0002c0017t0002g0100 a0002c0017t0002g0195	2	9	0.2222	795	c.115 others(812): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCC CTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACC CTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTC CCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCC CTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCC CTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTC CCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCCTCC TCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCC TCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCT CTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACC CCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPPED1_chr22_43407014_43512848	43500169	A A	ATGGAGGT others(788): Show ATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGT GATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTG ATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGT GGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTG ATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGT GGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGAGGGAGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0123 a0001c0001t0007g0123	1	243	0.0041	795	c.748 others(812): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATG GAGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGAT GGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTG GTGGAGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGG TGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTG GTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGT GGTGATGGTGGAGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(788): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATAAAAATATATATAAA TATATAAATATATATATAAATATATATAAATATATATAAATCTATATATA AATATATATAAATATATATAAATATATAAAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATATAAAAA ACCAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATATAA ATATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCC TCTGGTTTTGGTTTTTTTAATATATATATATATATTTAGGTCTTCTGGTT TTGGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAAT ATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02622.hp2 others(1): Show HG01243.hp1 HG02451.hp1 HG02622.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007	4	11	0.3636	795	c.293 others(814): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATAAAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATATAAATCTATATATAAATATATATA AATATATATAAATATATAAAAATATATATAAATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGT AAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTC AAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAA AACCAGAAGACCTAAATATATATATATATATATATAAAAAACCAAAACCA GAGGACCTAAATATATATATATAAATATATAAATATATAAATATAAATAT ATAAATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTG GTTTTTTTAATATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTAT ATATATATTTATATATTTATATAAATATAAATATATAAATATATATAATT ATATATATATTTAGGTCCTCTGGTTTTGGATATATGTATATATATATATT TAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
OR11H4_chr14_20234286_20249349	20237753	A A	ACTATAGT others(788): Show ACTATAGTATATATAGTATATATACTATATGTAATATAGTACATATAGTA TATATATATACTACTATATATATAATAGTATATATAGGATATATATATAC TACTATATATAGTATATATAGTAGATATACTATATATACTATATAGTATA TATAGTATATCTACTATATAGTACATATAGTATATACGGTATATCTACTA TATAGTATATATACTATATCTACTATATAGTATATATAGTATATATACTA TATAGTATATAGTATATATACTATATATACTATAGAGTATATATAGTATA TATAGTATATATACTATATACAGTATATATAGTATATATAGTATATATAC TATATATAGTATATATAGTATATATACTATATACAGTATATATAGTATAT ATAGTATATACAGTATATATAGTATATATAGTATATACAGTATATATAGT ATATATAGTATATACAGTATATATAGTATATATAGTATATATACTATATA TACTATATATAGTATATATAGTATATATACTATATATACTATATATAGTA TATATACTATATATACTATATATAGTATATATAGTATATATAGTATATAT ACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATAT AGTATATATAGTATATATAGTATATGTACTATATAGTACATATACTATAT ATAGTATATGTACTATATAGTACATATAGTATATATACTATATATACTAT ATATATAGTGTATATACTATATATACTATATATATAGTGTATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	243	0.0041	795	c.-15 others(806): Show c.-1590_-1589insCTATAGTATATATAGTATATATACTATATGTAAT ATAGTACATATAGTATATATATATACTACTATATATATAATAGTATATAT AGGATATATATATACTACTATATATAGTATATATAGTAGATATACTATAT ATACTATATAGTATATATAGTATATCTACTATATAGTACATATAGTATAT ACGGTATATCTACTATATAGTATATATACTATATCTACTATATAGTATAT ATAGTATATATACTATATAGTATATAGTATATATACTATATATACTATAG AGTATATATAGTATATATAGTATATATACTATATACAGTATATATAGTAT ATATAGTATATATACTATATATAGTATATATAGTATATATACTATATACA GTATATATAGTATATATAGTATATACAGTATATATAGTATATATAGTATA TACAGTATATATAGTATATATAGTATATACAGTATATATAGTATATATAG TATATATACTATATATACTATATATAGTATATATAGTATATATACTATAT ATACTATATATAGTATATATACTATATATACTATATATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATAGTATATGTACTATATA GTACATATACTATATATAGTATATGTACTATATAGTACATATAGTATATA TACTATATATACTATATATATAGTGTATATACTATATATACTATATATAT AGTGTATATAG	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1532		chr14	TogoVar
OR2T1_chr1_248398048_248413020	248408952	C C	CTGTAGAT others(788): Show CTGTAGATAGCGGCAGATGGTCCCGGGAGTTTAGCTCGGGCTAGGGCATT TGACTGCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCGC ATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAG AGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGC TCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGC AGATGGTCACGGGAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGC GGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGATCATTTGACTGTAGAT AGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	265	0.0038	795	c.18 others(806): Show c.1848_*1849insTGTAGATAGCGGCAGATGGTCCCGGGAGTTTAGC TCGGGCTAGGGCATTTGACTGCAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGC AGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGC GGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGCAGAT AGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTA GATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACT GTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTG ACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCGCAT TTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAT CATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTA GAGCATTTGAA	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		933		chr1	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(788): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	218	0.0046	795	c.129 others(812): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(788): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	218	0.0046	795	c.129 others(812): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(788): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0195 a0001c0005t0001g0195	1	218	0.0046	795	c.129 others(812): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(788): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCTGAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0115 a0001c0001t0003g0048 a0001c0001t0003g0115	2	51	0.0392	795	c.129 others(812): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(788): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCT GAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATA GATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0010 a0001c0006t0003g0010	1	50	0.0200	795	c.129 others(812): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAG ATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTA TTCTGAAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(788): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGC CACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGG GCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGG CAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTGG GTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCAC AGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGG CACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGCA CAGCCGTGGATGGAGCGACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGA TGGAGCAACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACA GGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCAT GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0272 a0002c0019t0002g0272	1	184	0.0054	795	c.533 others(812): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTG TCGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCC ACGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGC CCACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCC CCCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTG GCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCA CGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCC ACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGC TGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCG GCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCA CAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(788): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGC CACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGG GCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGG CAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTGG GTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCAC AGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGG CACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGCA CGGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGGT GGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAG GGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCAT GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0101 a0004c0004t0002g0101	1	184	0.0054	795	c.533 others(812): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCCTCCCTGCGGCTGCACCCAGGGCCA TGCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCG CCCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTG TCGCTCCATCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCC ACGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGC CCACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCC CCCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTG GCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCA CGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCC ACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGC TGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCG GCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCA CAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(788): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGATGGAGCCACAGGGAGGGGGGCGCTGTGGGCACGGCCGTGGGTGGAG CCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGG GGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGG GCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTG GGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCA CAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGG GCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGC ACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGG TGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACA GGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCAT GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0009 a0001c0002t0009g0009	1	184	0.0054	795	c.533 others(812): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGC TGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCG GCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCA CAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(788): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGGCGCTGTGGGCACGGCC GTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAG CCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGG GGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGG GCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTG GGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCA CAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGG GCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGC ACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGG TGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACA GGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCAT GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0002 a0009c0020t0002	a0009c0020t0002g0105 a0009c0020t0002g0105	1	184	0.0054	795	c.533 others(812): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCCTCCCTGCGGC TGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCG GCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCA CAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PRB2_chr12_11386540_11400567	11398223	T T	TTATGCAG others(788): Show TTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGTAGGGGATGTGG TGAAATAGGAACACTTTTACACTGTTAGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGTGATTCCTCAGGGTTCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACCGGGTATATACCCAAAGGATTATAA ATCATGCTGCTATAAAGACAAATTCACATGTATGTTTATTGCAGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTACAACAACTATAGAC TGGATTAAGAAAATGTGGCACATATACAGGATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAA CCATCATTCTCAGCAAACTATCACAAGGACAAAAAACCAAACACCACATG TTCTCACTCATAGATGGGAATTGAACAATGAGAACACATGGACACAGGAA GGGGAACATCACACACCAGGGACTGTTGTGGGGTGGGGGAGCAGGGAGGG ATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAG CACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGC ACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG04228.hp1 NA18941.hp1 others(1): Show HG03831.hp1 HG04228.hp1 NA18941.hp1 NA19063.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0002 a0006c0007t0001 a0006c0007t0002	a0006c0007t0001g0048 a0006c0007t0001g0049 a0006c0007t0002g0046 others(1): Show a0006c0007t0001g0048 a0006c0007t0001g0049 a0006c0007t0002g0046 a0006c0007t0002g0047	4	402	0.0100	795	c.-26 others(806): Show c.-2695_-2694insTAAAAAAATTTTATTATTATTATACTTTAAGTTT TAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGC CATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATC TCCTAATGCTATCCCTCCCTGCTCCCCCACCCCACAACAGTCCCTGGTGT GTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATC TATGAGTGAGAACATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGC TGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATCCTGTATATGTGCCACAT TTTCTTAATCCAGTCTATAGTTGTTGTACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCTGCAATAAACATACATGTGAATTTGTCTTTA TAGCAGCATGATTTATAATCCTTTGGGTATATACCCGGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGAACCCTGAGGAATCACCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACTAACAGTGTAAAAGT GTTCCTATTTCACCACATCCCCTACAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTT TTGGCTGCATA	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding		2657		chr12	TogoVar
PRB2_chr12_11386540_11400567	11398223	T T	TTATGCAG others(788): Show TTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGTAGGGGATGTGG TGAAATAGGAACACTTTTACACTGTTAGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGTGATTCCTCAGGGTTCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACCGGGTATATACCCAAAGGATTATAA ATCATGCTGCTATAAAGACAAATTCACATGTATGTTTATTGCAGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTACAACAACTATAGAC TGGATTAAGAAAATGTGGCACATATACAGGATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAA CCATCATTCTCAGCAAACTATCACAAGGACAAAAAACCAAACACCACATG TTCTCACTCATAGATGGGAATTGAACAATGAGAACACATGGACACAGGAA GGGGAACATCACACACCAGGGACTGTTGTGGGGTGGGGGAGCAGGGAGGG ATAGCATTAGGAGATATACCTAATGCTAAATGATGAGTTAATGGGTGCAG CACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGC ACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01168.hp1 HG00735.hp1 HG01168.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0044 a0008c0009t0001g0045 a0008c0009t0001g0044 a0008c0009t0001g0045	2	400	0.0050	795	c.-26 others(806): Show c.-2695_-2694insTAAAAAAATTTTATTATTATTATACTTTAAGTTT TAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGC CATGTTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGGTATATC TCCTAATGCTATCCCTCCCTGCTCCCCCACCCCACAACAGTCCCTGGTGT GTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATC TATGAGTGAGAACATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGC TGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATCCTGTATATGTGCCACAT TTTCTTAATCCAGTCTATAGTTGTTGTACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCTGCAATAAACATACATGTGAATTTGTCTTTA TAGCAGCATGATTTATAATCCTTTGGGTATATACCCGGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGAACCCTGAGGAATCACCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACTAACAGTGTAAAAGT GTTCCTATTTCACCACATCCCCTACAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTT TTGGCTGCATA	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding		2657		chr12	TogoVar
PRB2_chr12_11386540_11400567	11398223	T T	TTATGCAG others(788): Show TTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGTAGGGGATGTGG TGAAATAGGAACACTTTTACACTGTTAGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGTGATTCCTCAGGGTTCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACCGGGTATATACCCAAAGGATTATAA ATCATGCTGCTATAAAGACAAATTCACATGTATGTTTATTGCAGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTACAACAACTATAGAC TGGATTAAGAAAATGTGGCACATATACAGGATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAA CCATCATTCTCAGCAAACTATCACAAGGACAAAAAACCAAACACCACATG TTCTCACTCATAGATGGGAATTGAACAATGAGAACACGTGGACACAGGAA GGGGAACATCACACACCAGGGACTGTTGTGGGGTGGGGGAGCAGGGAGGG ATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAG CACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGC ACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0042 a0005c0006t0002g0042	1	399	0.0025	795	c.-26 others(806): Show c.-2695_-2694insTAAAAAAATTTTATTATTATTATACTTTAAGTTT TAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGC CATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATC TCCTAATGCTATCCCTCCCTGCTCCCCCACCCCACAACAGTCCCTGGTGT GTGATGTTCCCCTTCCTGTGTCCACGTGTTCTCATTGTTCAATTCCCATC TATGAGTGAGAACATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGC TGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATCCTGTATATGTGCCACAT TTTCTTAATCCAGTCTATAGTTGTTGTACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCTGCAATAAACATACATGTGAATTTGTCTTTA TAGCAGCATGATTTATAATCCTTTGGGTATATACCCGGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGAACCCTGAGGAATCACCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACTAACAGTGTAAAAGT GTTCCTATTTCACCACATCCCCTACAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTT TTGGCTGCATA	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding		2657		chr12	TogoVar
PRB2_chr12_11386540_11400567	11398223	T T	TTATGCAG others(788): Show TTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGTAGGGGATGTGG TGAAATAGGAACACTTTTACACTGTTAGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGTGATTCCTCAGGGTTCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACCGGGTATATACCCAAAGGATTATAA ATCATGCTGCTATAAAGACAAATTCACATGTATGTTTATTGCAGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTACAACAACTGTAGAC TGGATTAAGAAAATGTGGCACATATACAGGATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAA CCATCATTCTCAGCAAACTATCACAAGGACAAAAAACCAAACACCACATG TTCTCACTCATAGATGGGAATTGAACAATGAGAACACATGGACACAGGAA GGGGAACATCACACACCAGGGACTGTTGTGGGGTGGGGGAGCAGGGAGGG ATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAG CACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGC ACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp2 NA19083.hp2 NA19003.hp1 NA19003.hp2 NA19083.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0026 a0005c0006t0002g0043 a0005c0006t0002g0026 a0005c0006t0002g0043	3	401	0.0075	795	c.-26 others(806): Show c.-2695_-2694insTAAAAAAATTTTATTATTATTATACTTTAAGTTT TAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGC CATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATC TCCTAATGCTATCCCTCCCTGCTCCCCCACCCCACAACAGTCCCTGGTGT GTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATC TATGAGTGAGAACATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGC TGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATCCTGTATATGTGCCACAT TTTCTTAATCCAGTCTACAGTTGTTGTACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCTGCAATAAACATACATGTGAATTTGTCTTTA TAGCAGCATGATTTATAATCCTTTGGGTATATACCCGGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGAACCCTGAGGAATCACCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACTAACAGTGTAAAAGT GTTCCTATTTCACCACATCCCCTACAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTT TTGGCTGCATA	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding		2657		chr12	TogoVar
PRKAG2_chr7_151551127_151882115	151855474	C C	CCACACAC others(788): Show CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCT CCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCGCCCTCCACACACACCATCCTCCACACACCACCCTCCACAC ACCACCCTCCACACACACCATCCACACACCACCCTCCACACACACCATGC TCCACACACACCGCCCTCCACACACACCATCCTCCACACACACCATGCTC CACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACCA TCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCTC CACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCCA CACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCACA CACACCACCCTCCACACACACCACCCTCCACACACACCACCCTCCACACA CACCACGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACC ACCCTCCACACACCACCCTCCACACACACCACCCTCCACACACCGCCCTC CACACACACCACCCTCCACACACCGCCCTCCACACACACCATGCTCCACA CACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	81	0.0247	795	c.114 others(814): Show c.114+21032_114+21033insTGGAGGATGGTGTGTGTGGAGGGCGG TGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGTG TGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGC GGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGG TGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTG TGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTG TGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTG TGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGG TGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGA TGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGGATGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGT GTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGT GGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGT GTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855474	C C	CCACACAC others(788): Show CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCT CCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCAC ACACCACCCTCCACACACCACCCTCCACACACACCATCCACACACCACCC TCCACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTC CACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCAC CCTCCACACACCACCATCCACACACACCACGCTCCACACACACCGCCCTC CACACACACCATCCTCCACACACACCATCCTCCACACACACCACCCTCCA CACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCACA CACACCACCCTCCACACACACCACCCTCCACACACACCACCCTCCACACA CACCACGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCACCCTCCACACACACCACCCTCCACACACACC ACCCTCCACACACCACCCTCCACACACACCACCCTCCACACACCGCCCTC CACACACACCACCCTCCACACACCGCCCTCCACACACACCATGCTCCACA CACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0024 a0001c0002t0007g0024	1	80	0.0125	795	c.114 others(814): Show c.114+21032_114+21033insTGGAGGATGGTGTGTGTGGAGGGCGG TGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGTG TGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGC GGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGG TGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTG TGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTG TGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTG TGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTG TGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTG TGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGATGGTGTGTGTGGAGGG TGGTGTGTGGAGGGTGGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGT GTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGT GGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGT GTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TATATATA others(788): Show TATATATATGATATATATATATGATATATATATATGATATATATATATGA TATATATATATGATATATATATATGATATATATATATGATATATATATGA TATATATATATGATATATATATATGATATATATATATGATATATATATAT GATATATATATATGATATATATATATGATATATATATATGATATATATAT GATATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATATGATATATATATATGATATATATATATGATATATAT ATATGATATATATATATGATATATATATATGATATATATATATGATATAT ATATGATATATATATGATATATATATGATATATATATGATATATATATGA TATATATATGATATATATATGATATATATATATGATATATATATATGATA TATATATATGATATATATATATGATATATATATATGATATATATATATGA TATATATATGATATATATATGATATATATATGATATATATGATATATATA TGATATATATATGATATATATATGATATATATATATGATATATATATGAT ATATATATATGATATATATATATGATATATATATATGATATATATATGAT ATATATATATGATATATATATATGATATATATATATGATATATATATATG ATATATATATGATATATATATGATATATATATATGATATATATATATGAT ATATATATATGATATATATATGATATATATATATGATATATATATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0005 a0001c0005t0002g0005	1	268	0.0037	795	c.-21 others(814): Show c.-218-2600_-218-2599insCATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATCATATATATATATCATATATATATATCATA TATATATATCATATATATATATCATATATATATCATATATATATATCATA TATATATATCATATATATATATCATATATATATCATATATATATATCATA TATATATCATATATATATCATATATATATCATATATATCATATATATATC ATATATATATCATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATATATATCATATATATATATCATATATATATATC ATATATATATCATATATATATCATATATATATCATATATATATCATATAT ATATCATATATATATCATATATATATCATATATATATATCATATATATAT ATCATATATATATATCATATATATATATCATATATATATATCATATATAT ATATCATATATATATATCATATATATATATCATATATATATATCATATAT ATATATCATATATATATATCATATATATATCATATATATATATCATATAT ATATATCATATATATATATCATATATATATATCATATATATATATCATAT ATATATATCATATATATATATCATATATATATCATATATATATATCATAT ATATATATCATATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(788): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	27	0.0370	795	c.-75 others(814): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATAAACTAAATATATAAATATGTATTTATAAACTAA ATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAA CTAAATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAA CTAAATATATAAATATATATTTATAAACTAAATATATAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATA TATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SHANK1_chr19_50654255_50724802	50678994	G G	GATGGGGA others(788): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAAAGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGT GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0248 a0001c0003t0022g0248	1	144	0.0069	795	c.257 others(814): Show c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACAC TGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTG ACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCACCCCTC CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC CCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCAC CCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCC CACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCC CTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGACCCC TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCTTTCCCCATCACCCTGACCCCTCCCCA CACCCTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(788): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAGAGG GAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGA GGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGGGAGAGG GAGGGTGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCA GGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGA GGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGCA GGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGA GGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGA GGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGG GAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGG GACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0070 a0001c0015t0006g0070	1	2	0.5000	795	c.227 others(814): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTGCCTCCCCCTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCCTC CCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCC TCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCACCCTCCCTCTC CCTCCCTCCCACCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTC CCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCC TCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(788): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGA AGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG01993.hp1 others(14): Show HG00735.hp1 HG01261.hp1 HG01993.hp1 HG02056.hp2 HG02132.hp2 HG02258.hp2 HG03239.hp1 HG03540.hp2 HG04228.hp2 HG06807.hp2 NA18968.hp2 NA18972.hp1 NA18983.hp1 NA19003.hp2 NA19060.hp2 NA19068.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 others(4): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0058	a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0136 others(14): Show a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0130 a0001c0001t0007g0137 a0001c0001t0026g0131 a0001c0001t0026g0186 a0001c0001t0051g0146 a0001c0001t0053g0147 a0001c0001t0054g0107 a0001c0001t0058g0143	17	19	0.8947	795	c.597 others(812): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCC CTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THEG_chr19_356747_381026	376976	C C	CTCTGTAC others(788): Show CTCTGTACCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGC CTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCCCCTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTACCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCC CCCCCCTGTGCCTCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCC AGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCC CCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0321 a0001c0006t0001g0321	1	240	0.0042	795	c.-10 others(806): Show c.-1007_-1006insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGGGA GAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGAGGCACGGGGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGA GGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACA CGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGA GGCACAGGGGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGC TGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGAGGCACGGGGGGG GAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGAGGCACGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTAC AGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGG TGGGGTACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		951		chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGTTAG others(788): Show GGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	285	0.0035	795	c.50 others(806): Show c.5048_*5049insGGCCTCCCTAACCCCGGCCTTCCTAACCCCCAGC CTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCT GGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAT CCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGT CTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCC CTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930711	A A	AGGGTAGG others(788): Show AGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCA GGGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGT AGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCC AGGGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	335	0.0030	795	c.48 others(806): Show c.4879_*4880insAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACC CCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGG CCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAG CCTCCCTACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4658		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273442	A A	ATATATAT others(788): Show ATATATATAAAAATTATATATATTATATATATATAAAAATTATATATATT ATATATAAAAATTATATATATATTATATATATATAAAATTATATATATAT TATATATATATAAAAATTATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATATAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATATTATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATTATATATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	248	0.0040	795	c.30 others(806): Show c.3007_*3008insTATATATAAAAATTATATATATTATATATATATA AAAATTATATATATTATATATAAAAATTATATATATATTATATATATATA AAATTATATATATATTATATATATATAAAAATTATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATATAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATATTATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATTATATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2329		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870354	C C	CCCCCACA others(788): Show CCCCCACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCCCACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCCCACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCATACACACCACAC ACCCCCCACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACACCCCCCACACACCAC ACCCCATACACACCACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCCCACACACCACACCCCACACAC ACCACACACCCCCCACACACCACACACCATACACACCACACCCCACACAC ACCACACCCCCCACACACCACACCCCACACACCACACCCCACACACACCA CACACCACACACACCACACCCCATACACACCACACCCCATACACACCACA CCCCACACACACCACACCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCCCACACACCACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	227	0.0044	795	c.35 others(814): Show c.35+21623_*35+21624insCCACACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACACCCCCCACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCCCACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCATACACACCACACACCCCCCACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACACCCCCCACACACCACACCCCATACACACCACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCC CACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCA TACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCACA CACCACACCCCACACACACCACACACCACACACACCACACCCCATACACA CCACACCCCATACACACCACACCCCACACACACCACACCCCACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCCCACACACCACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(788): Show ACACACACCACACACCCCACACACACCACACAAACCACACACCCTACACA CCCCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACAAACCACACACACCACACACCCCACACACACCACACACACACATCAC ATACCACACACAAACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCAACACACACAT CACACACCACACACCCCACACACACATCACATACCACACACAAACCACAC ACCCCACACACACATCACATACCACACACAAACCACACACCCCACACACA CCACACACCCCACACACACCACACACCCGACACACGCCACACACACCACA CACCCCACGCACACATCACATACCACACACAAACCACACACCCCACACAC AAGCCACACACCCCACACACACCACACACCCCACACACCCCACACACACC ACACACCCCACACACACACCACACACCCCACACACACATCACATACCACA CACAAACCACACACCCCACACACCCCACACACCCCACACACACCACACAC CCGACACACGCCACACACACACCACACACCCCACGCACACATCACATACC ACACACAAACCACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	35	0.0286	795	c.35 others(814): Show c.35+22439_*35+22440insCACACAAACCACACACCCTACACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CAAACCACACACACCACACACCCCACACACACCACACACACACATCACAT ACCACACACAAACCACACACACACATCACATACCACACACCCGACACACG CCACACACACACCACACACCCCACGCACACATCACATACCACACACAAAC CACACACCCTACACACACCACACACCCCACACACACCACACACACACACC ACACACACATCACATACCACACACAAACCACACACCCAACACACACATCA CACACCACACACCCCACACACACATCACATACCACACACAAACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCCACACACACC ACACACCCCACACACACCACACACCCGACACACGCCACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCCACACACAA GCCACACACCCCACACACACCACACACCCCACACACCCCACACACACCAC ACACCCCACACACACACCACACACCCCACACACACATCACATACCACACA CAAACCACACACCCCACACACCCCACACACCCCACACACACCACACACCC GACACACGCCACACACACACCACACACCCCACGCACACATCACATACCAC ACACAAACCACACACCCTACACACCCCACACACCCCACACACACCACACA CCACACACCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(788): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATAATATA TATTATTATATATTATTATATATAATAATATAATATATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATAATAATATATATATATTATTATATATAATTATATAT AATAATATAATATATATTATTATATATAATTATATATAATAATATAAATA TATTATTATATATAATTATATATAATAATATAAATATATTATTATATATT ATATATAATAATATAATATATATTATATATTATTATATATAATAATATAA TATATATTATATATTATTATATATAATAATATAATATATATTATTATATA TTATTATATATAATAATATAATATATATTATTATATATAATAATATAATA TATATTATTATATATTATTATATATAATAATATATAATAATATAATATAT ATTATTATATATTATTATATATAATAATATAATATATATTATTATATATA ATAATATAATATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	83	0.0120	795	c.392 others(812): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATATTATATTATTATAT ATAATAATATATAATAATATATATTATATTATTATATATTATTATATATA ATAATATATAATAATATATATTATATTATTATATATAATAATATATATTA TATTATTATATATAATAATATATAATAATATATATTATATTATTATATAT AATAATATATAATATATATTATATTATTATATATAATAATATATAATATA TATTATATTATTATATATAATATATAATAATATATTTATATTATTATATA TAATTATATATAATAATATATTTATATTATTATATATAATTATATATAAT AATATATATTATATTATTATATATAATTATATATAATAATATATATATAT TATTATTATATATAATAATATATATTATATTATTATATATAATTATATAT AATAATATATATTATATTATTATATATAATTATATATAATAATATATATT ATATTATTATATATAATTATATATAATAATATATATTATATTATTATATA TAATAATATATAATAATATATATTATATTATTATATATAATTATATATAA TAATATAATATATATTATTATATATAATTATATATAATAATATATATTAT ATTATTATATATAATTATATATAATAATATATATTATATTATTATATATA ATTATATATAATAATATATATTATATTATTATATATAATAATATATAATA ATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(788): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0140 a0001c0001t0015g0140	1	24	0.0417	795	c.82+ others(810): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATA TATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATA TATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACA TATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACA TATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAA TACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
XKR6_chr8_10891045_11206833	11026445	A A	AGTCTAGC others(788): Show AGTCTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGAT GGTCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGAT GGTCTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACAACTAGATG GTCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATG GTCTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATGG TCTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGATGG TCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGG TCTAGCCTACTACACTCTTAATGGTGTTGCCTACTACACACCTAGATGGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTATACACTTAGATAGT GTTGCCTACTACACACCTAAATGGTCTGGCCTACTACACACTTAGATGGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACTTAGATAGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGATGGT CTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGGT CTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATGGTC TAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGGTC TAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 HG02723.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0049 a0001c0001t0003 a0001c0001t0049	a0001c0001t0003g0042 a0001c0001t0049g0112 a0001c0001t0003g0042 a0001c0001t0049g0112	2	153	0.0131	795	c.765 others(816): Show c.765-101616_765-101615insCATCTAGGTGTGTAGTAGGCAACG CCATTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGAC CATCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACGC CATTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACC ATCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACTATCTAAGTGTGTAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACCATCTAAGTGTGTAGTAGGCCAGACC ATTTAGGTGTGTAGTAGGCAACACTATCTAAGTGTATAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACACC ATTAAGAGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCA TCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCA TCTAGGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACGCCA TTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCAT CTAAGTGTGTAGTAGGCTAGACCATCTAGTTGTGTAGTAGGCAACGCCAT TAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCATC TAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCATC TAGGTGTGTAGTAGGCTAGAC	XKR6	ENSG00000171044.11	transcript	ENST00000416569.3	protein_coding	1/2			chr8	TogoVar
XKR6_chr8_10891045_11206833	11026445	A A	AGTCTAGC others(788): Show AGTCTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGAT GGTCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGAT GGTCTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATG GTCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATG GTCTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATGG TCTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGATGG TCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGG TCTAGCCTACTACACTCTTAATGGTGTTGCCTACTACACACCTAGATGGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTATACACTTAGATAGT GTTGCCTACTACACACCTAAATGGTCTGGCCTACTACACACTTAGATGGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACTTAGATAGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGATGGT CTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGGT CTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATGGTC TAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGGTC TAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02257.hp1 HG02602.hp1 others(12): Show HG02165.hp1 HG02257.hp1 HG02602.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03471.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0045 a0001c0001t0051	a0001c0001t0003g0067 a0001c0001t0007g0116 a0001c0001t0008g0045 others(12): Show a0001c0001t0003g0067 a0001c0001t0007g0116 a0001c0001t0008g0045 a0001c0001t0010g0123 a0001c0001t0011g0098 a0001c0001t0012g0114 a0001c0001t0016g0069 a0001c0001t0017g0176 a0001c0001t0017g0177 a0001c0001t0017g0178 a0001c0001t0021g0122 a0001c0001t0024g0173 a0001c0001t0024g0174 a0001c0001t0045g0091 a0001c0001t0051g0172	15	166	0.0904	795	c.765 others(816): Show c.765-101616_765-101615insCATCTAGGTGTGTAGTAGGCAACG CCATTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGAC CATCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACGC CATTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACC ATCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACTATCTAAGTGTGTAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACCATCTAAGTGTGTAGTAGGCCAGACC ATTTAGGTGTGTAGTAGGCAACACTATCTAAGTGTATAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACACC ATTAAGAGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCA TCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCA TCTAGGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACGCCA TTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCAT CTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACGCCAT TAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCATC TAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCATC TAGGTGTGTAGTAGGCTAGAC	XKR6	ENSG00000171044.11	transcript	ENST00000416569.3	protein_coding	1/2			chr8	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(789): Show TAGATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATATAAATATTTATATATTTATAGATAAATGTATAAATATATA AATATTTATATATTTATAGATAAATATATAAATATATAAATATTTATATA TTTATAGATAAATATATAAATATATAAATATTTATAGATAAATAGATAAA TATATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATT TATCTATAAATATATAAATATTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	201	0.0050	796	c.130 others(815): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATCTATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATACATTTATCTATAAATAT ATAAATATTTATATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100058226	A A	ACCCCTAT others(789): Show ACCCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACCCCTCCTAT CCCAGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTC TAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACCCTCCT ATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGGCT CTTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACACCC CCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCG GCTCTTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACC CTCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACCCTCCTATCCC GGCTCTAACCCTCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACC CTCCTATCCCGGCTCTAACACCCCATATCCCGGCTCTGACCCTCCTATCC CGGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTA ACCCTCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACACCCCTAT CCCGGCTCTAACACCCCATATCCCGGCTCTAACACCCCTATCCCGGCTCT AACACCCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACCCTCCT ATCCCGGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGC TCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0021 a0003c0006t0021	a0003c0006t0021g0088 a0003c0006t0021g0089 a0003c0006t0021g0088 a0003c0006t0021g0089	2	199	0.0101	796	c.213 others(815): Show c.2138-4173_2138-4172insGGTTAGAGCCGGGATAGGAGGGTTAG AGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGAT AGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGGTGT TAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGG ATATGGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGAGGG TTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAAGAGCCG GGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTCAGAGCCGGGATATGGG GTGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGC CGGGATAGGAGGGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGA GGGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGC CGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAG GAGGGTTAGAGCCGGGATAGGGGGTGTTAGAGCCGGGATAGGGGTGTTAG AGCCGGGATAGGGGTGTTAAGAGCCCGGGATAGGAGGGTTAGAGCCGGGA TAGGGGTGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGAGGGTT AGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGG ATAGGGGTGTTAAGAGCTGGGATAGGAGGGGTTAGAGCCGGGATAGGGGG TGTTAGAGCCGGGATAGGGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(789): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTATACACACATATACACGTATACGTA TACACACATATATACGTATACGTATACACACATATACACGTATACGTATA CGTATACACACATATACACGTATATACGTATACGTGTACACACATATACA CGTATATACGTATACGTGTACACACATATATACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACATACACGTATACGTGTACACACACATACGTA TACGTGTACACACACATACGTATACGTGTACACACACATACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATATACGTATACGTGTACACACATATACACGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0113 a0001c0002t0060g0113	1	112	0.0089	796	c.48- others(813): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACGTATACGTATACACACATAT ACGTATACGTATACACACATATACGTATACGTATACACACATATACACGT ATACGTATACACACATATATACGTATACGTATACACACATATACACGTAT ACGTATACGTATACACACATATACACGTATATACGTATACGTGTACACAC ATATACACGTATATACGTATACGTGTACACACATATATACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACATACACGTATACGTGTACACACAC ATACGTATACGTGTACACACACATACGTATACGTGTACACACACATACGT ATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTAT ACGTGTACACACATATACACGTATATACGTATACGTGTACACACATATAC ACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(789): Show CATATACGTATACGTGTACACACATATACGTATACGTGTACACACATATA CGTATACGTGTACACACATATACGTATACGTGTACACACATATACGTATA CGTGTACACACATATACGTATACGTGTACACACATATACACGTATACGTA TACGTGTACACACATATACACGTATATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATATACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACA TACACGTATACGTGTACACACACATACACGTATATACGTATACGTGTACA CACACATACACGTATATACGTATACGTGTACACACACATACACGTATATA CGTATACGTGTACACACATATACCTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0152 a0001c0002t0019g0152	1	112	0.0089	796	c.48- others(813): Show c.48-70722_48-70721insGTATACGTGTACACACATATACGTATAC GTGTACACACATATACGTATACGTGTACACACATATACGTATACGTGTAC ACACATATACGTATACGTGTACACACATATACACGTATACGTATACGTGT ACACACATATACACGTATATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATATACACGTATATACGTATACGTGTAC ACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATAC GTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACACATACACGT ATACGTGTACACACACATACACGTATATACGTATACGTGTACACACACAT ACACGTATATACGTATACGTGTACACACACATACACGTATATACGTATAC GTGTACACACATATACCTATACGTGTACACACATATACACGTATACGTGT ACACACATATACACGTATACGTGTACACACATATACACGTATATACGTAT ACGTGTACACACATATAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(789): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATATGCTCATATAATATATTATATAT GCTCATATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATATATGCTC ATATATAATATATTATATATGCTCATATATAATATATTATATATGCTCAT ATAATATATTATATATGCTCATATATAATATATTATGTATGCTCATATAT AATATATTATGTATGCTCATATATAATATATTATGTATGCTCATATATAA TATATTATGTATGAGCATATATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	10	0.1000	796	c.10 others(809): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATATTATAT GAGAATATATAATATATTATATGAGAATATATATTATATATGAGAATATA TAATATATATGAGAATATATATAATATGTCATATATGAGAATATATATTA TATATGAGAATATATATTATATAAATGAGAAAATATATATTATATATTAG AATATATACATTATATATGAGTATATATATAATATATGAGAATATATATA ATATATGAGTATATATTATATATATGAGAATATATATTATATATGAGAAT ATATATATTATATATATGAGAATATATAATATATATATATGAGAATATAT ATTATATATATGAGTATATATAATATATATGAGAATATATATTATATGTA TATAATATATATAATATATAATATATAATATATAATATATAATATATACA TATATACATATAATATATAAACATATAATATATAATATATACATGTAATA TATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AVEN_chr15_33861227_34044204	33894705	C C	CAGGCTGA others(789): Show CAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGGCGGAGGTTGCAGTC AGCTGAGATCGCGACACTGCACTCCAGTCCGGGTGACAGAGTGAGACTCC GTCTCCAAAAAAAAAAAAAGAAAAAAAAAATCATCAAGTCTGTCAAATGC AGTTTTCCCCTATGGGTGGCTCTTCAAGATTCACACTTTAACATAACGCT AAGGTTTGGGTATATTTTATTCTTGACATATATTCCTAAAATTGGAATTA CTGGGTACAGGAATAAAATTTAGTTTGAAACTATTTATGTTACTCTATAG ATCTGCTGAAACATAGATCCAACGTGCAAATTCCATTCATAACATTCTCA TCCACTTTTACACAAATGTGTGTTAAATGCCTACTATGTGTCAGATTAGA AGCTAGTGATACAGAATGTTATCCAAAGTCCCTGCTCTCATGGAATTACT ACTACTTAAATGTCTACTAAAGGGAGAAGAAAATTTAAATGAATCACCTA GTTCCTGAAAGCCCTATCAATAACTTTTGTATTTACATACACAATTGTAT TAAAAGTGTTATTATTTATTAAGTATATTAAGAAGTACAAGCCCTTCTAC TTATTAAAATAATAGAATGTGGCCGGGCTTGGTGGCTCACACGTGTAATC CCAGCACTTTGGGAGCCTGAGGCGGGCGGATCACAAGGTCAGGAGATCAA GACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGTGCAGTGGCGGGCACCTGTAGTCCCAGCTACTTGGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	7	0.1429	796	c.446 others(815): Show c.446-18711_446-18710insCCCAAGTAGCTGGGACTACAGGTGCC CGCCACTGCACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGC CTCAGGCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCAAGCCCGGC CACATTCTATTATTTTAATAAGTAGAAGGGCTTGTACTTCTTAATATACT TAATAAATAATAACACTTTTAATACAATTGTGTATGTAAATACAAAAGTT ATTGATAGGGCTTTCAGGAACTAGGTGATTCATTTAAATTTTCTTCTCCC TTTAGTAGACATTTAAGTAGTAGTAATTCCATGAGAGCAGGGACTTTGGA TAACATTCTGTATCACTAGCTTCTAATCTGACACATAGTAGGCATTTAAC ACACATTTGTGTAAAAGTGGATGAGAATGTTATGAATGGAATTTGCACGT TGGATCTATGTTTCAGCAGATCTATAGAGTAACATAAATAGTTTCAAACT AAATTTTATTCCTGTACCCAGTAATTCCAATTTTAGGAATATATGTCAAG AATAAAATATACCCAAACCTTAGCGTTATGTTAAAGTGTGAATCTTGAAG AGCCACCCATAGGGGAAAACTGCATTTGACAGACTTGATGATTTTTTTTT TCTTTTTTTTTTTTTGGAGACGGAGTCTCACTCTGTCACCCGGACTGGAG TGCAGTGTCGCGATCTCAGCTGACTGCAACCTCCGCCTCCCAAGTTCAAG CAATTCTCCTGCCTCAGCCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar

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