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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(425): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	432	c.-10 others(443): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(425): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	432	c.-10 others(443): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT ATAAATTTTTATATATGATATATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1042		chr3	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(425): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0039 a0008c0011t0005g0039	1	354	0.0028	432	c.523 others(451): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGG		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	C C	CATATGCA others(425): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATA TGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTA CATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATG CATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACG TATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATA CCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTA TATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACG TACATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATA TGCATGTATATGTACGTATACGTACATATACCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01978.hp1 HG03710.hp1 others(4): Show HG00621.hp2 HG01978.hp1 HG03710.hp1 NA18968.hp1 NA18979.hp2 NA19062.hp2 NA19063.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0012c0013	a0001c0001t0001 a0001c0006t0001 a0001c0006t0006 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0006 a0002c0002t0001 a0002c0002t0006 a0012c0013t0001	a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0006t0001g0126 others(4): Show a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0006t0001g0126 a0001c0006t0006g0125 a0002c0002t0001g0081 a0002c0002t0006g0101 a0012c0013t0001g0114	7	226	0.0310	432	c.137 others(453): Show c.1373-18118_1373-18117insGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGT ACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCT ATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATAT GTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTAC ATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGC ATGTATAT		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAP1_chr7_892900_959680	905922	G G	GGGAAAGG others(425): Show GGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGA GAAAGGAGAAAGGAAAGGAGAAAGGGAGAAAGGAGAAAGAGAAAGGTGAA AGGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAAAGGAGAAAGGAGAAAG GAGAAAGGAGGTAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGG AGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAAGGA GAAGGAGAAGAAAGGATAAATGAGAAAGGAGAAAGGAGAAAGGAGAAAGG AGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGGAAAGGAGAAAGGA GAAAGGAGAAAGGAGAAAGGAGAAGGAGAAAGGGAAAGGAGAAAGGAGAA AGGAGAAAGGAAAGGAGAAAGGGAAAGGAGAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	14	0.0714	432	c.389 others(447): Show c.389-751_389-750insTTTCTCCTTTCCCTTTCTCCTTTCCTTTCT CCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTCTCCTTTCTCCTTTCTCCT TTCTCCTTTCTCCTTTCCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTT TCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCATTTATCCTTTCTTCTCC TTCTCCTTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCCCTT TCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCCCTTACCTCCTTT CTCCTTTCTCCTTTCTCCTTTCCTTTCTCCTTTCTCCTTTCTCCTTTCTC CCTTTCACCTTTCTCTTTCTCCTTTCTCCCTTTCTCCTTTCCTTTCTCCT TTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTT CC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10						chr7	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(425): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATTATATATTATATATTATATATTATATATATTATA TACATATAATATATATTCTCATATATATTATATATACTCATATATATAAT ATATATTCTCATATATATATATTATATATTCTCATATATATAATATATAT ATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATAT TATATATATTCTCATATATTATATATATACTCATATATAATGTATATATT CTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATA TAATATATATTCTCATATATGACATATTATATATATTCTCATATATATTA TATATTCTCATATATAATATATATTCTCATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0000 a0001c0001t0067g0000	1	416	0.0024	432	c.10 others(445): Show c.10504_*10505insTATATGAGAATATATATTATATATGAGAATAT ATAATATATATGAGAATATATATAATATGTCATATATGAGAATATATATT ATATATGAGAATATATATTATATAAATGAGAAAATATATATTATATATTA GAATATATACATTATATATGAGTATATATATAATATATGAGAATATATAT AATATATGAGTATATATTATATATATGAGAATATATATTATATATGAGAA TATATATATTATATATATGAGAATATATAATATATATATATGAGAATATA TATTATATATATGAGTATATATAATATATATGAGAATATATATTATATGT ATATAATATATATAATATATAATATATAATATATAATATATACATATAAT ATATAAACATATAATATATAATATATACATGTAATATATATTATATATAT		AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding					2579		chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(425): Show AAGGGGAGGGGGAGGTGAGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAA GGGTGGGGAGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGA CGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGA AGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGG GGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGA GGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTG AGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGA AGGCGAGGGGAGGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	350	0.0029	432	c.248 others(447): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTC TCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCA CCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCAC CCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCTCCCCA CCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCTCACCTCCCCCTCCC CT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(425): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAAGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAG GTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGG AGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAG GGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGG GGGAGGGGAAGGCGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0013 a0008c0011t0005g0014 a0008c0011t0005g0013 a0008c0011t0005g0014	2	350	0.0057	432	c.248 others(447): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCGCCTTCCCCT CCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTT CCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCAC CCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCT CACCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCAC CTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACC CGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCAC CCTTCCACTCCCCTCACTTCCTCCTCCCCCTCCCCTCACCTCCCCCTCCC CT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(425): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGT GAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGA AGGCGAGGGGAGGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0221 a0001c0001t0017g0221	1	350	0.0029	432	c.248 others(447): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCT CTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCC CCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCCT CCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCAC CTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACC CGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCAC CCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCCTCCC CT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(425): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	334	0.0030	432	c.838 others(447): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(425): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAAGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03831.hp2 HG02080.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	334	0.0060	432	c.838 others(447): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCTT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(425): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02015.hp1 HG02074.hp1 others(1): Show HG00597.hp1 HG02015.hp1 HG02074.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0160 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0160 a0001c0001t0001g0190 a0001c0001t0001g0207	4	334	0.0120	432	c.838 others(447): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349939	C C	CAGGGGAA others(425): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	334	0.0030	432	c.838 others(447): Show c.838-743_838-742insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(425): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0326 a0002c0002t0006g0326	1	334	0.0030	432	c.838 others(447): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(425): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18940.hp2 HG01981.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0305 a0001c0001t0001g0251 a0001c0001t0001g0305	2	334	0.0060	432	c.838 others(447): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(425): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	334	0.0030	432	c.838 others(447): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350011	G G	GAGGGGAA others(425): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	334	0.0030	432	c.838 others(447): Show c.838-815_838-814insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350047	G G	GAGGGGAA others(425): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAA GGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0077 a0006c0008t0001g0077	1	334	0.0030	432	c.838 others(447): Show c.838-851_838-850insGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTT GCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350119	G G	GAGGGGAA others(425): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	334	0.0030	432	c.838 others(447): Show c.838-923_838-922insGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ARFRP1_chr20_63693647_63712976	63693714	A A	ACCTCCAC others(425): Show ACCTCCACCACCACCTCCACCTCCACCACCACCACCACCACCACCTCCAC CACCACCTCCACCACCACCTCCACCACCACCTCCACCTCCACCACCACCA CCACCACCACCTCCACCACCACCTCCACCACCACCACCACCTCCACCTCC ACCACCTCCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCAC CACCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCT CCACCACCTCCACCACCACCTCCACCTCCACCTCCACCTCCACCACCTCC ACCACCTCCACCACCTCCACCACCACCACCTCCACCACCTCCACCTCCAC CTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCT CCACCTCCACCACCTCCACCTCCACCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	296	0.0034	432	c.67 others(443): Show c.6728_*6729insAGGTGGAGGTGGAGGTGGAGGTGGTGGAGGTGGA GGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGG TGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTG GAGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGTGGTGGAGGTGGTGGA GGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGAGGTGGTGGAGGTGGTGG TGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGAGGTGGTG GAGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGGAGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGG TGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGAGG		ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding					4932		chr20	TogoVar
ARHGEF10_chr8_1818926_1963641	1833001	C C	CAGAGGCA others(425): Show CAGAGGCAGAAAGAGACAGAGACGGAGAGAGAGACAGAGGCAGAGAGAGA CAGACAGAGGCAGAGGCAGAGACAGAAATAGACAGAGGCAGAGAGAGACA CAGGCAGAGACAGAGAGAGACAGAGACAGAGACAGGCAGAGAGACAGAGG CAGAGACAGAGACAGGCAGAGACAGAGGCAGAGAGAGACAGAGACAGAGG CAGAGAGAGACAGAGGGAGGCAGAGACAGAGGCAGAGGCAGAGACAGAAG CAGAGGGAGGCAGAGGGAGACAGACAGAGGCAGAGACAGAGGCAGAGAGA GACAGGCAGAGACAGAGGCAGAGGCAGAGACAGAGATAGAGGCAGAGAGA GATACAGGCAGAGACAGAGACAGAGAGACAGAGACAGGCAGAGAGATACA GAGAGACAGAGGCAGAGAGACAGACAGAGACAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(92): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18945.hp2 NA18949.hp2 NA18952.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18975.hp2 NA18983.hp1 NA18990.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19065.hp2 NA19074.hp2 NA19080.hp2 NA19082.hp1 NA19087.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0015 a0020	a0001c0001 a0001c0002 a0001c0003 others(48): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0016 a0001c0018 a0001c0023 a0001c0035 a0001c0036 a0001c0041 a0001c0042 a0001c0068 a0001c0103 a0001c0104 a0001c0106 a0001c0134 a0001c0135 a0001c0137 a0001c0145 a0002c0017 a0002c0024 a0002c0030 a0002c0034 a0002c0047 a0002c0057 a0002c0073 a0002c0074 a0002c0076 a0002c0077 a0002c0078 a0002c0079 a0002c0080 a0002c0130 a0002c0131 a0003c0039 a0003c0043 a0003c0141 a0004c0038 a0005c0101 a0006c0090 a0015c0087 a0020c0105	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(68): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0043 a0001c0002t0001 a0001c0002t0003 a0001c0002t0049 a0001c0003t0001 a0001c0003t0020 a0001c0004t0002 a0001c0004t0039 a0001c0005t0001 a0001c0005t0027 a0001c0006t0001 a0001c0006t0050 a0001c0007t0003 a0001c0008t0002 a0001c0008t0004 a0001c0008t0037 a0001c0009t0002 a0001c0009t0023 a0001c0010t0001 a0001c0011t0002 a0001c0011t0003 a0001c0012t0001 a0001c0012t0003 a0001c0012t0018 a0001c0013t0001 a0001c0016t0004 a0001c0018t0024 a0001c0018t0028 a0001c0023t0001 a0001c0023t0010 a0001c0035t0001 a0001c0035t0061 a0001c0036t0004 a0001c0041t0011 a0001c0041t0038 a0001c0042t0002 a0001c0068t0004 a0001c0103t0001 a0001c0104t0010 a0001c0106t0002 a0001c0134t0020 a0001c0135t0001 a0001c0137t0003 a0001c0145t0001 a0002c0017t0002 a0002c0024t0001 a0002c0024t0053 a0002c0030t0002 a0002c0034t0040 a0002c0047t0002 a0002c0057t0003 a0002c0073t0001 a0002c0074t0002 a0002c0076t0036 a0002c0077t0001 a0002c0078t0002 a0002c0079t0056 a0002c0080t0022 a0002c0130t0001 a0002c0131t0001 a0003c0039t0009 a0003c0043t0004 a0003c0141t0009 a0004c0038t0018 a0005c0101t0002 a0006c0090t0003 a0015c0087t0030 a0020c0105t0002	a0001c0001t0002g0053 a0001c0001t0004g0022 a0001c0001t0004g0138 others(92): Show a0001c0001t0002g0053 a0001c0001t0004g0022 a0001c0001t0004g0138 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0165 a0001c0001t0004g0168 a0001c0001t0019g0320 a0001c0001t0043g0145 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0068 a0001c0002t0001g0198 a0001c0002t0001g0341 a0001c0002t0003g0151 a0001c0002t0003g0166 a0001c0002t0049g0021 a0001c0003t0001g0026 a0001c0003t0001g0033 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0003t0001g0081 a0001c0003t0020g0083 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0039g0076 a0001c0005t0001g0051 a0001c0005t0001g0078 a0001c0005t0027g0195 a0001c0006t0001g0073 a0001c0006t0050g0094 a0001c0007t0003g0143 a0001c0008t0002g0027 a0001c0008t0002g0152 a0001c0008t0002g0156 a0001c0008t0004g0136 a0001c0008t0037g0154 a0001c0009t0002g0055 a0001c0009t0002g0080 a0001c0009t0023g0046 a0001c0009t0023g0047 a0001c0010t0001g0044 a0001c0011t0002g0082 a0001c0011t0003g0144 a0001c0012t0001g0031 a0001c0012t0003g0164 a0001c0012t0018g0311 a0001c0013t0001g0017 a0001c0013t0001g0029 a0001c0016t0004g0176 a0001c0018t0024g0086 a0001c0018t0028g0146 a0001c0023t0001g0034 a0001c0023t0010g0160 a0001c0035t0001g0045 a0001c0035t0061g0075 a0001c0036t0004g0177 a0001c0041t0011g0025 a0001c0041t0038g0155 a0001c0042t0002g0153 a0001c0068t0004g0167 a0001c0103t0001g0040 a0001c0104t0010g0162 a0001c0106t0002g0157 a0001c0134t0020g0084 a0001c0135t0001g0060 a0001c0137t0003g0163 a0001c0145t0001g0079 a0002c0017t0002g0041 a0002c0017t0002g0042 a0002c0017t0002g0056 a0002c0024t0001g0054 a0002c0024t0053g0178 a0002c0030t0002g0077 a0002c0034t0040g0074 a0002c0047t0002g0061 a0002c0057t0003g0137 a0002c0073t0001g0062 a0002c0074t0002g0052 a0002c0076t0036g0147 a0002c0077t0001g0032 a0002c0078t0002g0036 a0002c0079t0056g0043 a0002c0080t0022g0035 a0002c0130t0001g0028 a0002c0131t0001g0058 a0003c0039t0009g0038 a0003c0043t0004g0349 a0003c0141t0009g0196 a0004c0038t0018g0085 a0005c0101t0002g0087 a0006c0090t0003g0024 a0015c0087t0030g0139 a0020c0105t0002g0039	95	363	0.2617	432	c.-48 others(449): Show c.-48+8890_-48+8891insAGGCAGAAAGAGACAGAGACGGAGAGAG AGACAGAGGCAGAGAGAGACAGACAGAGGCAGAGGCAGAGACAGAAATAG ACAGAGGCAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAG ACAGGCAGAGAGACAGAGGCAGAGACAGAGACAGGCAGAGACAGAGGCAG AGAGAGACAGAGACAGAGGCAGAGAGAGACAGAGGGAGGCAGAGACAGAG GCAGAGGCAGAGACAGAAGCAGAGGGAGGCAGAGGGAGACAGACAGAGGC AGAGACAGAGGCAGAGAGAGACAGGCAGAGACAGAGGCAGAGGCAGAGAC AGAGATAGAGGCAGAGAGAGATACAGGCAGAGACAGAGACAGAGAGACAG AGACAGGCAGAGAGATACAGAGAGACAGAGGCAGAGAGACAGACAGAGAC AGAG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7450769	T T	TCCGTTTC others(425): Show TCCGTTTCCAAGATGTTAATACGGGATCTTGCTGTCCATTTCCGAGATGT TAATACAGGATCTTGCTTTCTGTTTCCATTTCCGAGATGTTAATGTGGAT CTTGCTATCTGTTTCCGAGACATTAATATGGGATCTTGCTTTCCGTTTCC ATTTCCAAGATGTTAATACGGGATCTTGCTGTCCATTTCCGAGATGTGAA TGCAGGATCTTGCTGTCCGTTTCTGAGATGTTAATACGGGATCTTGCTGT CCGTTTCCAAGATGTTAATGCAGGATCTTCCTTTCCGTTTCCGTTTCCGA GATGTTAATATGGGATCTTGCTGTCCGTTTCCGAGATGTTAATACAGGAT CTTGCTTTCTGTTTCCATTTCCGAGATGTTAATGTGGATCTTGCTTTCCA TTTCCGAGATGTTAATACGGGATCTTGCTGTCC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	298	0.0034	432	c.173 others(449): Show c.1738-378_1738-377insGTTTCCAAGATGTTAATACGGGATCTTG CTGTCCATTTCCGAGATGTTAATACAGGATCTTGCTTTCTGTTTCCATTT CCGAGATGTTAATGTGGATCTTGCTATCTGTTTCCGAGACATTAATATGG GATCTTGCTTTCCGTTTCCATTTCCAAGATGTTAATACGGGATCTTGCTG TCCATTTCCGAGATGTGAATGCAGGATCTTGCTGTCCGTTTCTGAGATGT TAATACGGGATCTTGCTGTCCGTTTCCAAGATGTTAATGCAGGATCTTCC TTTCCGTTTCCGTTTCCGAGATGTTAATATGGGATCTTGCTGTCCGTTTC CGAGATGTTAATACAGGATCTTGCTTTCTGTTTCCATTTCCGAGATGTTA ATGTGGATCTTGCTTTCCATTTCCGAGATGTTAATACGGGATCTTGCTGT CCCC		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	15/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(425): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGAGGCTGGGG CTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCT GAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGA GGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03130.hp1 HG03130.hp1	a0030 a0030	a0030c0048 a0030c0048	a0030c0048t0001 a0030c0048t0001	a0030c0048t0001g0029 a0030c0048t0001g0029	1	326	0.0031	432	c.546 others(441): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGAGGCTGGGGCTGGGGCT GAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGG GGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGG CTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(447): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlu AlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGluAlaGlyAl aGlyAlaGluValGlyAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaG luAlaGlyAlaArgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGlu AlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAl aGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaG ly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(425): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATGAATA TATATATCATATATGATATATATATGAATATATATCATATATGATATATA TGATATATATATCATATATTATATATGATATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATGAATATATATATCATATAT GATATATATGAATATATATATCATATATGATATATATTCATATATATCAT ATATGATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0014 a0016c0035t0014	a0016c0035t0014g0154 a0016c0035t0014g0154	1	356	0.0028	432	c.924 others(449): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATCATATATGATATATATATTCATAT ATATCATATATGATATATATATTCATATATATCATATATGATATATATAT TCATATATATCATATATGATATATATATCATATATAATATATGATATATA TATCATATATATCATATATGATATATATTCATATATATATCATATATGAT ATATATATTCATATATATCATATATGATATATATATTCATATATATCATA TATGATATATATATTCATATATATCATATATGATATATATATTCATATAT ATCATATATGATATATATATTCATATATATCATATATGATATATATATTC ATATATATCATATATGATATATATATTCATATATATCATATATGATATAT ATAT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41						chr14	TogoVar
ATP11A_chr13_112685038_112892168	112864726	G G	GTGCAGCT others(425): Show GTGCAGCTTCTCAGCAGGGTCCATCACCACCTGCACAGTAATTCAGTGCA GGCCATGCAGCTTCTCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAG TGCAGCACGTGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAAT TCAGTGCAGCACGTGCAGCTTCCCAGCGGGGTCCATCACCACATGGGCAG TAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGC GCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGGTCCATCACCAC ATGGGCAGTAATTCAGTGCAGGCCATGCAGCTTCCCAGCGGGGATCATCA CCACGTGCGCCATAATTCAGCGTAGCACGTGTAGCTTCCCAGCGGGATCC ATCACCACATGGGCAGTAATTCAGTGCAGCCCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	254	0.0039	432	c.299 others(451): Show c.2991+2160_2991+2161insTCAGCAGGGTCCATCACCACCTGCAC AGTAATTCAGTGCAGGCCATGCAGCTTCTCAGCGGGGTCCATCACCACCT GCGCAGTAATTCAGTGCAGCACGTGCAGCTTCCCAGCGGGGTCCATCACC ACCTGCGCAGTAATTCAGTGCAGCACGTGCAGCTTCCCAGCGGGGTCCAT CACCACATGGGCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGGT CCATCACCACCTGCGCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCG GGGTCCATCACCACATGGGCAGTAATTCAGTGCAGGCCATGCAGCTTCCC AGCGGGGATCATCACCACGTGCGCCATAATTCAGCGTAGCACGTGTAGCT TCCCAGCGGGATCCATCACCACATGGGCAGTAATTCAGTGCAGCCCATGC AGCTTC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79308963	T T	TGAGGAGT others(425): Show TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCT CCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATC TCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG GAGTGATCCCCAGCAGGGAGAAGGTCCGGGGCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02698.hp2 NA21309.hp1 HG02615.hp1 HG02698.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0003 a0001c0006t0003 a0001c0004t0003 a0001c0006t0003	a0001c0004t0003g0041 a0001c0004t0003g0092 a0001c0006t0003g0281 a0001c0004t0003g0041 a0001c0004t0003g0092 a0001c0006t0003g0281	3	298	0.0101	432	c.177 others(451): Show c.1773+1763_1773+1764insCTGAGTAGTGATCCTCCGCAGGTAGA AGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGA GGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTG ATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCTCCAGCAGGTA GAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCT GAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCC AGCAGGGAGAAGGTCCGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGT CAGGGG		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79308975	C C	CCCAGCAG others(425): Show CCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAG GAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAG AAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGG AGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCTCCA GCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0017 a0001c0014t0006g0017	1	298	0.0034	432	c.177 others(451): Show c.1773+1763_1773+1764insCTGAGTAGTGATCCTCCGCAGGTAGA AGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGA GGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTG ATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTA GAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTG GAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCTCC AGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGT CAGGGG		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82958816	G G	GTGTGGGG others(425): Show GTGTGGGGGTGTATGGTGTGTGTGTGTATACTGTGTGGGGGTGTATGGTG TGTGTGTGTGTACACTGGGGGTGTATGGTGTGTGTGTGTGTACACTGGGG GTGTATGGTGTGTGTGTGTATACTGTGTGGGGGTGTATGTGTGTGTGTGT ACACTGTGGGGGTGTATGGTGTGTGTGTGTGTACACTGTGGGGGTGTATG GTGTGTGTGTGTGTACACTGGGGGTGTATGGTGTGTGTGTGTGTGTACAC TGGGGGTGTATGGTGTGTGTGTGTGTGTACACTGGGGGTGTATGGTGTGT GTGTGTATACTGTGTGGGGGTGTATGGTGTGTGTGTGTGTACACTGGGGG TGTATGGTGTGTGTGTATACTGTGTGGGGGTGTATGTGTGTGTGTGTACA CTGTGGGGGTGTATGGTGTGTGTGTGTGTACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02280.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0198 a0001c0003t0015g0199 a0001c0003t0015g0198 a0001c0003t0015g0199	2	266	0.0075	432	c.681 others(449): Show c.681-1323_681-1322insGTGTACACACACACACACCATACACCCC CACAGTGTACACACACACACATACACCCCCACACAGTATACACACACACC ATACACCCCCAGTGTACACACACACACACCATACACCCCCACACAGTATA CACACACACACCATACACCCCCAGTGTACACACACACACACACCATACAC CCCCAGTGTACACACACACACACACCATACACCCCCAGTGTACACACACA CACACCATACACCCCCACAGTGTACACACACACACACCATACACCCCCAC AGTGTACACACACACACATACACCCCCACACAGTATACACACACACACCA TACACCCCCAGTGTACACACACACACACCATACACCCCCAGTGTACACAC ACACACACCATACACCCCCACACAGTATACACACACACACCATACACCCC CACA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12						chr17	TogoVar
B4GALNT3_chr12_454939_568509	511665	A A	ACCTTCCG others(425): Show ACCTTCCGCCTTCCGCCTTCCACCTTCCACCTTCCTTCCACCTTCCACCT TCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTT CCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCC ACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCAC CTTCCACCTTCCACCTTCTACCTTCTTCCACCTTCCACCTTCCACCTTCT ACCTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCA CCTTCCGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTC CACCTTCTTCCACCTTCGAGCTTCCACCTTCCG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp1 HG02723.hp1 HG03209.hp1	a0001 a0006 a0001 a0006	a0001c0050 a0006c0007 a0001c0050 a0006c0007	a0001c0050t0044 a0006c0007t0065 a0001c0050t0044 a0006c0007t0065	a0001c0050t0044g0394 a0006c0007t0065g0206 a0001c0050t0044g0394 a0006c0007t0065g0206	2	394	0.0051	432	c.170 others(451): Show c.170-23475_170-23474insCACCTTCCTTCCACCTTCCACCTTCC ACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCA CCTTCCTTCCACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCCA CCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACC TTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTT CCACCTTCCACCTTCTACCTTCTTCCACCTTCCACCTTCCACCTTCTACC TTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCT TCCGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCAC CTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCCGCCTTCCGCCTTCC ACCTTC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511884	T T	TCCACCTT others(425): Show TCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTT CCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCTTCCGCC TTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCACCTTCTT CCACCTTCGAGCTTCCACCTTCCGCCTTCTGCCTTCCACCTTCCACCTTC CCTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACC TTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCTTCCACC TTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCT TCCACCTTCCACCTTCTTCCACCTTCCACCTTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp2 HG02027.hp1 HG02080.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0046 a0001c0001 a0006c0046	a0001c0001t0001 a0006c0046t0003 a0001c0001t0001 a0006c0046t0003	a0001c0001t0001g0393 a0006c0046t0003g0392 a0001c0001t0001g0393 a0006c0046t0003g0392	2	394	0.0051	432	c.170 others(451): Show c.170-23281_170-23280insCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTT CTTCCACCTTCCACCTTCCGCCTTCCACCTTCGACCTTCTTCCACCTTCG ACCTTCCACCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTT CTGCCTTCCACCTTCCACCTTCCCTCCACCTTCCACCTTCGACCTTCCGC CTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTC CGCCTTCCACCTTCCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCC ACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCTTCCACCTTC CACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCA CCTTCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(425): Show TCAAAAAAAAAAAAAGAGAGAGGCGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCAG GCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCAT TTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGCC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	442	0.0045	432	c.55 others(443): Show c.5514_*5515insCAAAAAAAAAAAAAGAGAGAGGCGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCT CTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCA ACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTT TAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTG GCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(425): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCAG GCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCAT TTCACTGTGTTGACCAGGGTGATCGCGATCTCCTGGCCTCGTGATCTGCC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0000 a0001c0005t0002g0000	1	442	0.0023	432	c.55 others(443): Show c.5514_*5515insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCT CTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCA ACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTT TAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCGCGATCTCCTG GCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(425): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCAG GCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCAT TTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGCC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00544.hp1 others(134): Show HG00099.hp2 HG00140.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA20905.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0014 a0009c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0003t0006 a0001c0011t0002 a0001c0014t0002 a0009c0010t0002	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 others(8): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0007g0000 a0001c0002t0008g0000 a0001c0002t0009g0000 a0001c0002t0010g0000 a0001c0003t0006g0000 a0001c0011t0002g0000 a0001c0014t0002g0000 a0009c0010t0002g0000	137	442	0.3100	432	c.55 others(443): Show c.5514_*5515insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCT CTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCA ACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTT TAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTG GCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(425): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCAG GCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCAT TTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGCC TGCCTTGGCCTCTCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01257.hp1 HG01258.hp1 others(6): Show HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	9	442	0.0204	432	c.55 others(443): Show c.5514_*5515insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCT CTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCA ACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTT TAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTG GCCTCGTGATCTGCCTGCCTTGGCCTCTCAAAGTGCTGGGATTACAGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(425): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCAG GCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCAT TTCACTGTGTTGACCAGGGTGATCTCGATGTCCTGGCCTCGTGATCTGCC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02886.hp1 HG03486.hp1 others(1): Show HG02486.hp2 HG02886.hp1 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0000 a0001c0002t0005g0000	4	442	0.0091	432	c.55 others(443): Show c.5514_*5515insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCT CTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCA ACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTT TAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATGTCCTG GCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(425): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCAG GCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTGCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCAT TTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGCC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	442	0.0023	432	c.55 others(443): Show c.5514_*5515insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCT CTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCA ACCTCTGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTT TAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTG GCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(425): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCA GGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG TGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTAGTAGAAAGGGCAT TTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGCC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	442	0.0023	432	c.55 others(443): Show c.5514_*5515insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTC TCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGC AACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTT TAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTG GCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(425): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAGCGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTGTTTTTTGTGTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCAG GCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCAT TTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGCC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03579.hp2 HG03130.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	442	0.0045	432	c.55 others(443): Show c.5514_*5515insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAGCGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTGTTTTTTGTGTTTTTTTGAGACAAAGTCT CTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCA ACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTT TAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTG GCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(425): Show TCAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAGT GCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAGT GATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTTT TTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCAG GCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCAT TTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGCC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG02280.hp1 others(1): Show HG01071.hp2 HG01496.hp1 HG02280.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	442	0.0091	432	c.55 others(443): Show c.5514_*5515insCAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGT TGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAA CTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGG CTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCT CTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCA ACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTT TAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTG GCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276785	T T	TCAAAAAA others(425): Show TCAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAGT GCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAGT GATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTTT TTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCA GGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG TGCGTGCCACCAACACTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCA TTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGC CTGCCTTGGCCTCCAAAGTGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	442	0.0023	432	c.55 others(443): Show c.5514_*5515insCAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGT TGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAA CTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGG CTTGAAACCCAGTTTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTC TCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGC AACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGGTGCGTGCCACCAACACTGGCAATTTTTTTGTATTT TTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCT GGCCTCGTGATCTGCCTGCCTTGGCCTCCAAAGTGCTGGGATTACAGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					4971		chr17	TogoVar
BRSK2_chr11_1384934_1467689	1396185	T T	TCTCTTCC others(425): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCAC TCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTT CCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACG TCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGG TCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTC CACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCC ACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTC TTCCCTTCCACCCACGTCCCCCACTCCTGGTCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03017.hp1 HG03669.hp1 HG02683.hp2 HG03017.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0006g0248 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0006g0248	3	360	0.0083	432	c.91+ others(447): Show c.91+5928_91+5929insCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCAC GTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTG GTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT CCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCC CACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCT CTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCC ACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCC TGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCC TT		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(425): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGATGATGGTGGT GATGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGA TGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGAT GGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGG TGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATG GTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGAT GGTGATGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGTGA TGGTGATGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01346.hp2 HG00735.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	292	0.0069	432	c.21 others(447): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCATC ACCATCACCACCACCACTACCATCACCACCATCATCACCATCACCACCAC CACCATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCA CCACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCATCATCACCATCACCACCATCATCA CCATCACCACCACCATCACCACCATCACCACCACCATCACCACCATCACC ATCACCACCATCATCACCATCACCACCATCATCACCATCACCACCACCAT CA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7						chr17	TogoVar
C4orf50_chr4_5954375_6023431	6004855	G G	GGTGATGG others(425): Show GGTGATGGTGTGATGGAATGATGGTGATGATGATGGTGATGGCTGATGCT GTGATGATCGGTGATGGTGATGAAGGTGATGGTGATGATGGTGATGAGGT GATGATGGTGATGATGGTGATGGATTGGTGGTGATGATGTGATGGTGCAT GATGAGATGTGATGATGATGTGAGGTGATGGTGATGAGAGTGATGATGGA TGATGAGTGCAGGTATGTGTGATAGTGATAGACTTGATAGATGGAGCCGT GATGTGATAATGCTTGATGGTAGCTTGCACTGTGATGCAGTGATGATAGC TGCTGACTGTTGAGACTGATGGTGATGAGTGATGCATGAGCAGTGATGAT GGCTGATGGCTGATGGTGATGTAGTGTGTGCATGAGCATGGTGATGAGGT GATGCTCGATAGTGATGCTGATGATCGAGATGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	346	0.0029	432	c.963 others(449): Show c.963+3140_963+3141insTCATCTCGATCATCAGCATCACTATCGA GCATCACCTCATCACCATGCTCATGCACACACTACATCACCATCAGCCAT CAGCCATCATCACTGCTCATGCATCACTCATCACCATCAGTCTCAACAGT CAGCAGCTATCATCACTGCATCACAGTGCAAGCTACCATCAAGCATTATC ACATCACGGCTCCATCTATCAAGTCTATCACTATCACACATACCTGCACT CATCATCCATCATCACTCTCATCACCATCACCTCACATCATCATCACATC TCATCATGCACCATCACATCATCACCACCAATCCATCACCATCATCACCA TCATCACCTCATCACCATCATCACCATCACCTTCATCACCATCACCGATC ATCACAGCATCAGCCATCACCATCATCATCACCATCATTCCATCACACCA TCAC		C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11						chr4	TogoVar
CABLES1_chr18_23130485_23265470	23218325	C C	CTCCCGCA others(425): Show CTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTT CCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCC CGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCG CATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCA TCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCATC CTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCT CACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCA CTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACT TGCCCTGGCTCCCGCATCCTCACTTGCCCTGGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02895.hp1 HG02897.hp2 HG00438.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0028 a0001c0003t0002 a0001c0003t0028	a0001c0003t0002g0181 a0001c0003t0002g0237 a0001c0003t0028g0072 a0001c0003t0002g0181 a0001c0003t0002g0237 a0001c0003t0028g0072	3	278	0.0108	432	c.108 others(451): Show c.1088+4293_1088+4294insGCTCCCGCATCCTCACTTGCCCTGGT TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCATCCTCACTT GCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218636	C C	CCTCCCAC others(425): Show CCTCCCACATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0273 a0001c0001t0006g0273	1	278	0.0036	432	c.108 others(451): Show c.1088+4587_1088+4588insACATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTT GCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGC CCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCC TGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTG GCTCCC		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218636	C C	CCTCCCGC others(425): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	278	0.0036	432	c.108 others(451): Show c.1088+4605_1088+4606insCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTT GCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(425): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	142	0.0070	432	c.244 others(451): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAA GGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGG AAGGAA		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(425): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	142	0.0070	432	c.244 others(451): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAA GGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGG AAGGAA		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(425): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCC TCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	142	0.0070	432	c.244 others(451): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAA GGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGG AAGGAA		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44328554	A A	AGTGATGG others(425): Show AGTGATGGTGGTGATGATAGTGATGGTGGTAAGGGTGGTGGTGATGGTGG TGGTGGTGATGGTAGTGATGATAATGATAATGATAGTGTTGGTGGTGATG GTGGTGGTGATAGTGGTGGTGGTGGTGATGATGGTGGTGGTGGTGATGGT AGTGATGATAATGATAATGATAGTGTTGGTGGTGATGGTGGTGGTGATAG TGGTGGTGGTGATGATGGTGGTGGTGGTGATGGTAGTGCTGCTGATGGTG GTGGTGGTGGTAATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTAAT AGTGGTGGGGATGGCGATGGTGGTGGTGGTTATGATAATGATGGTAATGC TGATGCTGGTGGTGGTGATGGTGGTAGTGATGGCCGTGGTGATAGTTGTG TCAATGGTGGTGGTGGTGTCAATGGTGGTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01168.hp2 HG02148.hp1 others(1): Show HG00140.hp2 HG01168.hp2 HG02148.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0003 a0001c0002t0012 a0001c0003t0007 others(1): Show a0001c0001t0003 a0001c0002t0012 a0001c0003t0007 a0002c0005t0004	a0001c0001t0003g0184 a0001c0002t0012g0229 a0001c0003t0007g0039 others(1): Show a0001c0001t0003g0184 a0001c0002t0012g0229 a0001c0003t0007g0039 a0002c0005t0004g0171	4	242	0.0165	432	c.-31 others(443): Show c.-3134_-3133insCACCACCACCATTGACACCACCACCACCATTGAC ACAACTATCACCACGGCCATCACTACCACCATCACCACCACCAGCATCAG CATTACCATCATTATCATAACCACCACCACCATCGCCATCCCCACCACTA TTACCATCATCACCATCACCATTACCACCACCACCATTACCACCACCACC ACCATCAGCAGCACTACCATCACCACCACCACCATCATCACCACCACCAC TATCACCACCACCATCACCACCAACACTATCATTATCATTATCATCACTA CCATCACCACCACCACCATCATCACCACCACCACCACTATCACCACCACC ATCACCACCAACACTATCATTATCATTATCATCACTACCATCACCACCAC CACCATCACCACCACCCTTACCACCATCACTATCATCACCACCATCAC		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding					2961		chr7	TogoVar

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