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
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(713): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCA GACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG00735.hp1 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0112 a0002c0002t0001g0113	2	248	0.0081	720	c.377 others(737): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(713): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	720	c.26 others(731): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(713): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCG CCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTC CCGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTAC AGGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGG GGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCC GCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCG CCCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTG GATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCAC ACCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG01106.hp2 others(24): Show HG00597.hp2 HG00642.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01884.hp2 HG02132.hp1 HG02148.hp1 HG02602.hp1 HG02615.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03492.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18950.hp2 NA18979.hp2 NA18993.hp2 NA19000.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0005c0008t0005	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0042 a0001c0001t0002g0053 a0001c0001t0002g0086 a0001c0001t0004g0033 a0001c0001t0005g0013 a0001c0001t0006g0012 a0001c0001t0006g0035 a0005c0008t0005g0087	27	321	0.0841	720	c.39 others(731): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACA CATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTG GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAA CCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTC CCGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGG TATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAA TTCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC		MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding					3048		chr7	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(713): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0145 a0001c0008t0001g0145	1	147	0.0068	720	c.315 others(737): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTT TGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(713): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0040 a0002c0005t0001g0040	1	147	0.0068	720	c.315 others(737): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTT TGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTAT others(713): Show ATATTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTA TATATATTTTTATATATATAAAATCATATTTTATATATATTTTATATATT ATATATATAAAATCTTATTTTATATATTATATATATATAAAATCTTATTT TATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTAATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0004 a0001c0001t0015g0004	1	274	0.0036	720	c.-5+ others(735): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATTAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGAT TTTATATATATATAATATATAAAATAAGATTTTATATATATAATATATAA AATATATATAAAATATGATTTTATATATATAAAAATATATATAAATATAT ATAAAATATGATTTTATATATATAAAAATATATATAAATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MUC4_chr3_195741771_195816929	195776175	T T	TCATACCT others(713): Show TCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACAGTCATACCTTCCGCACCCATACCTTC CACAGTCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0098 a0098	a0098c0131 a0098c0131	a0098c0131t0002 a0098c0131t0002	a0098c0131t0002g0170 a0098c0131t0002g0170	1	203	0.0049	720	c.129 others(741): Show c.12944-1871_12944-1870insGGTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTAT GGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTAT GGGTGTGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTG TGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTG TGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195779259	T T	TGTGGATG others(713): Show TGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTG TGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGCGTGACCTGTG GACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGTGTGACCTGAAGA TGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATG CTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCT GAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGACCTGTGGATGCCGA GGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCTGTGGAAGCTGAGG AAAGGCCGGTGACAGGAAGTGGGGTGGCGTGAGCTGTGGATACTGAGGAA GTGTCGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGC GTCAGTGACAAGAAGAGGGCTGGCGTGACCTGTGGATGCTGAGGAAGGGC TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG GTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCCGAGGACACGTCGGT GACAGGAAGACGGGTGGTGTCATCTGTGGTAGCTGAGGAAAGGCCGGTGA CAGGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAATTGTCGGTGACA GGAAGAGGGGTGGCGTGACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18947.hp2 NA18947.hp2	a0103 a0103	a0103c0099 a0103c0099	a0103c0099t0001 a0103c0099t0001	a0103c0099t0001g0040 a0103c0099t0001g0040	1	248	0.0040	720	c.123 others(731): Show c.12320_12321insCGGTCACGCCACCCCTCTTCCTGTCACCGACAAT TCCTCAGTATCCACAGGTCATGCCACCCCTCTTCCTGTCACCGGCCTTTC CTCAGCTACCACAGATGACACCACCCGTCTTCCTGTCACCGACGTGTCCT CGGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCA GTATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCTCAGC ATCCACAGGTCACGCCAGCCCTCTTCTTGTCACTGACGCTTCCTCAGCAT CCACAGGTCAGGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCC ACAGCTCACGCCACCCCACTTCCTGTCACCGGCCTTTCCTCAGCTTCCAC AGATGACACCACCCGTCTTCCTGTCACCGACGTTTCCTCGGCATCCACAG GTCAGGCCATCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGT GACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACAGGTGA CACCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCTTCAGGTCACA CCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCC ACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTGACACCAC CCCTCTTCCTGTCACCGACACTAACTCAGCATCCAC	p.Thr others(735): Show p.Thr4107_Gly4108insGlyHisAlaThrProLeuProValThrAsp AsnSerSerValSerThrGlyHisAlaThrProLeuProValThrGlyLe uSerSerAlaThrThrAspAspThrThrArgLeuProValThrAspValS erSerAlaSerThrGlyGlnAlaThrProLeuProValThrSerLeuSer SerValSerThrGlyAspThrThrProLeuProValThrSerProSerSe rAlaSerThrGlyHisAlaSerProLeuLeuValThrAspAlaSerSerA laSerThrGlyGlnAlaThrProLeuProValThrAspThrSerSerVal SerThrAlaHisAlaThrProLeuProValThrGlyLeuSerSerAlaSe rThrAspAspThrThrArgLeuProValThrAspValSerSerAlaSerT hrGlyGlnAlaIleProLeuProValThrSerProSerSerAlaSerThr GlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGl yAspThrThrSerLeuProValThrIleProSerSerAlaSerSerGlyH isThrThrSerLeuProValThrAspAlaSerSerValSerThrGlyHis AlaThrSerLeuLeuValThrAspAlaSerSerValSerThrGlyAspTh rThrProLeuProValThrAspThrAsnSerAlaSerThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12432/16756	12320/16239	4107/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784560	A A	AGTGACAG others(713): Show AGTGACAGGAAGAGGGGTGGTGTCATCTGTGGACACTGAGGAAGCGTCGG TGACAAGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTG ACAGGAAGAGGGGTGGCGTCACCTGTGGATAATGAGGAAGGGCTAGTGTC AGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAG GCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGA AGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAG AGGCGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG GGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGG GTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGG CGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTG TGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCCTGAC CTGTGGATGCTGAGTAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCT GTGGATGCTGAGGAAGTGTCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18906.hp1 NA18906.hp1	a0101 a0101	a0101c0114 a0101c0114	a0101c0114t0007 a0101c0114t0007	a0101c0114t0007g0009 a0101c0114t0007g0009	1	109	0.0092	720	c.701 others(729): Show c.7019_7020insCGACACTTCCTCAGCATCCACAGGTGACACCACCCC TCTTCCTGTCACCGACACTTACTCAGCATCCACAGGTCAGGCCACCCCTC TTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCCTCTT CCTGTCACCGACACTTCCTCAGCATCCACAGGTCACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTG TCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCAC CGACGCTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTGTCACCG ACACTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACCAGC CTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGC TTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACCAGCCCTT CCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGACACTAGCCCTTCC TCATTATCCACAGGTGACGCCACCCCTCTTCCTGTCACCAGCCCTTCCTC AGCATCCACAGGTGACACCACCTCTCTTCTTGTCACCGACGCTTCCTCAG TGTCCACAGATGACACCACCCCTCTTCCTGTCAC	p.Thr others(735): Show p.Thr2340_Ser2341insAspThrSerSerAlaSerThrGlyAspThr ThrProLeuProValThrAspThrTyrSerAlaSerThrGlyGlnAlaTh rProLeuProValThrAspThrSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspThrSerSerAlaSerThrGlyHisThrThrPro LeuProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuP roValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuPro ValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuProVa lThrAspThrSerSerAlaSerThrGlyAspThrThrProLeuProValT hrSerLeuSerSerValSerThrGlyAspThrThrProLeuLeuValThr AspAlaSerSerAlaSerThrGlyGlnAlaThrProLeuProValThrSe rProSerSerAlaSerThrGlyAspThrThrProLeuProAspThrSerP roSerSerLeuSerThrGlyAspAlaThrProLeuProValThrSerPro SerSerAlaSerThrGlyAspThrThrSerLeuLeuValThrAspAlaSe rSerValSerThrAspAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7131/16756	7019/16239	2340/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788106	A A	AGTGTCGG others(713): Show AGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAG TGCTGGTGAGAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTG TCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTC GGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGG TGACAGGAAGAGGGGTGGTGTCACCTGTGGATAATGAGGAAGCATCGGTG ACATGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGAC AGGAAGAGGGGTGGTGTCATCTGTGGACACTGAGGAAGCGTCGGTGACAA GAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGA AGAGGGGTGGCGTCACCTGTGGATAATGAGGAAGGGCTAGTGACAGGAAG AGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAG GGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGG GTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGCGT GGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGG CGTGACCTGTGGATACTGAGGAAGCATCAGTGACATGAAGAGGGGTGGTG TGACCTGTGGATGCTGAGGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp2 HG02976.hp2 HG02258.hp2 HG02976.hp2	a0060 a0081 a0060 a0081	a0060c0160 a0081c0158 a0060c0160 a0081c0158	a0060c0160t0009 a0081c0158t0009 a0060c0160t0009 a0081c0158t0009	a0060c0160t0009g0222 a0081c0158t0009g0244 a0060c0160t0009g0222 a0081c0158t0009g0244	2	248	0.0081	720	c.347 others(729): Show c.3473_3474insCTCCTCAGCATCCACAGGTCACACCACCCCTCTTCA TGTCACTGATGCTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTG TCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTC ACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCAC CGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTA GCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGC CCTTCCTCATTATCCACAGGTGACGCCACCCCTCTTCCTGTCACCAGCCC TTCCTCAGCATCCACAGGTGACACCACCTCTCTTCTTGTCACCGACGCTT CCTCAGTGTCCACAGATGACACCACCCCTCTTCCTGTCACTAGCCCTTCC TCAGCATCCACAGGTCACGCCACCCTTCTTCATGTCACCGATGCTTCCTC ATTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAG CATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCA TCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATC CACAGGTCAGGCCACCCCTCTTCCTCTCACCAGCACTTCCTCAGCATCCA CAGGTGACACCACCCCTCTTCCTGTCACCGACAC	p.Ala others(735): Show p.Ala1158_Ser1159insSerSerAlaSerThrGlyHisThrThrPro LeuHisValThrAspAlaSerSerValSerThrGlyHisAlaThrProLe uProValThrSerLeuSerSerValSerThrGlyAspThrThrProLeuP roValThrSerLeuSerSerValSerThrGlyAspThrThrProLeuLeu ValThrAspAlaSerSerAlaSerThrGlyGlnAlaThrProLeuProVa lThrSerProSerSerAlaSerThrGlyAspThrThrProLeuProValT hrSerProSerSerLeuSerThrGlyAspAlaThrProLeuProValThr SerProSerSerAlaSerThrGlyAspThrThrSerLeuLeuValThrAs pAlaSerSerValSerThrAspAspThrThrProLeuProValThrSerP roSerSerAlaSerThrGlyHisAlaThrLeuLeuHisValThrAspAla SerSerLeuSerThrGlyAspThrThrProLeuProValThrAspThrSe rSerAlaSerThrGlyAspThrThrProLeuProValThrAspAlaSerS erAlaSerThrGlyAspThrThrProLeuProValThrAspThrSerSer AlaSerThrGlyGlnAlaThrProLeuProLeuThrSerThrSerSerAl aSerThrGlyAspThrThrProLeuProValThrAspThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3585/16756	3473/16239	1158/5412			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(713): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAATATATATATTTA AATATAAGTATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0180 a0002c0004t0011g0180	1	156	0.0064	720	c.358 others(737): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTAAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATATAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGT ATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTT AAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAA ATATATATATTTAAATATAAGTATATATATAAATATATATAT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(713): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATT TAAATATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	156	0.0064	720	c.358 others(737): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATATAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTT AAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAA AAATATATATATTTAAATATAAGTATATATAAATATATATAT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(713): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATGTAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATA TATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTA TGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATA TTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATT TAAATATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	156	0.0064	720	c.358 others(737): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT GTAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT GTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATAT TTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTAT ATAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTT AAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAA AAATATATATATTTAAATATAAGTATATATAAATATATATAT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690621	T T	TAAGTATA others(713): Show TAAGTATAACATATAAATATATATATTTATAATATAAGTATACATATAAA TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATACATATATTTTATATATAAGTATATATATAAATATATATATTTAT ATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATTT ATAGTATAAGTATATATAAATATATATATTTATATATAAGTGTATATAAA TATATATATATTTATATATAAGTGTATATATATAAATATATATATTTTAT ATATAAGTGTATATATATAAATATATATATTTATATATAAGTATATATAA ATATATATATTTATATATAAGTATATATAAATATATATATATTTATATAT AAGTATATATAAATATATATATTTTATATATAAGTATATATAAATATATA TATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTTAAAT ATAAGTATATATAAAATATATATTTAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATAATATAAGTATATATATAAATATATATTT AAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATATAA AATATTATATATTTAAATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0167 a0001c0001t0006g0167	1	324	0.0031	720	c.358 others(737): Show c.358+3360_358+3361insACATATAAATATATATATTTATAATATA AGTATACATATAAATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATACATATATTTTATATATAAGTATATATATAA ATATATATATTTATATATAAGTATATATATATTTATATATAAGTATATAT AAATATATATATTTATAGTATAAGTATATATAAATATATATATTTATATA TAAGTGTATATAAATATATATATATTTATATATAAGTGTATATATATAAA TATATATATTTTATATATAAGTGTATATATATAAATATATATATTTATAT ATAAGTATATATAAATATATATATTTATATATAAGTATATATAAATATAT ATATATTTATATATAAGTATATATAAATATATATATTTTATATATAAGTA TATATAAATATATATATTTATATATAAGTATATATAAATATATATATTTA AATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAA TATATATTTTAAATATAAGTATATATAAAATATATATTTAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATAATATAAGTATATAT ATAAATATATATTTAAATATAAGTATATATATAAATATATATTTAAATAT AAGTATATATATAAAATATTATATATTTAAATATAAAGTATA		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241805464	G G	GACCTCCG others(713): Show GACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAA CCCAGGGACCTCTGCAGGCCACTCTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACTCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAACCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	293	0.0034	720	c.-38 others(731): Show c.-3814_-3813insACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACTCTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3728		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(713): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0179 a0001c0018t0009g0179	1	235	0.0043	720	c.46 others(731): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532257	T T	TCCCCCGC others(713): Show TCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGAC CCTCCTGTCTCCTCTTGCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0001 a0002c0058t0001	a0002c0058t0001g0258 a0002c0058t0001g0258	1	80	0.0125	720	c.46 others(731): Show c.4680_*4681insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2935		chr18	TogoVar
NKX1-1_chr4_1397932_1411442	1398033	G G	GGGTGTTT others(713): Show GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC AGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGG ATGCCGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATACAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	720	c.48 others(731): Show c.4898_*4899insTGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGTATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAGCACCCGGCATCCAACCTGATCTA CTCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4898		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398488	T T	TTTTCGGG others(713): Show TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATACA GGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	347	0.0029	720	c.44 others(731): Show c.4443_*4444insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGTATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACTCACATCCAGATGCCCGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4443		chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCAGGG others(713): Show TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGGGTGGGAGTGGGTGGAGGGGGGGAGCACT CAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCAC TCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGAGGGGGGAG CACTCAGGATCCCTCCCGGGGCAATGAGTGGCAGGGTGGGTGGAGGGGGG AGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGG GGAGCACTCAGGATCCCTCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGTCGGGGG GAGCACTCAGGATCCTCCCAGGGGCAATGGGTCAGGGTGGGTGGGGGGGA GCACTCAGGATCCTCCAGGGGCAATGGGTGCAGGGTGGGTCGGGAGGGGG GGAGCACTCAGGATCCCTCCCGGGGCAATGGGGTGCAGGGTGGGTGGAGG GGGGAGCACTCAGGATCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0179 a0001c0001t0007g0179	1	124	0.0081	720	c.140 others(737): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACCCTGCACCCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCCTC CCGACCCACCCTGCACCCATTGCCCCTGGAGGATCCTGAGTGCTCCCCCC CACCCACCCTGACCCATTGCCCCTGGGAGGATCCTGAGTGCTCCCCCCGA CCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCA CCCACCCTGCACCCATTGCCCCTGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCT CCACCCACCCTGCCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCC CTCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCC CCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTC CCCCCCTCCACCCACTCCCACCCACCCATTGCCCCTGGGAGGGATCCTGA GTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGA GTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGGAGGGATCCTGA GTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCTCGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	326	0.0031	720	c.-40 others(731): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGG AACTTTGTCGAGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGCGAG TAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3866		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCTCGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCTGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02083.hp2 HG02132.hp1 others(4): Show HG02040.hp2 HG02083.hp2 HG02132.hp1 NA18940.hp2 NA18947.hp1 NA18986.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0088 a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0088	7	332	0.0211	720	c.-40 others(731): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTGGCTGGGAACTTTGT CGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGG AACTTTGTCGAGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGCGAG TAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3866		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCTGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02735.hp2 HG00733.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	327	0.0061	720	c.-40 others(731): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATA GGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGG AACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3866		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCTGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	326	0.0031	720	c.-40 others(731): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGG AACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3866		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCTGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	326	0.0031	720	c.-40 others(731): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTGGCTGGGAACTTTGT CGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGG AACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3866		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050044	T T	TGCCACCC others(713): Show TGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGT CCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACA AAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCAC CCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTAC CCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTC CCAGCCACCCGCCTGCCCCTACTCTCGACAAAGTTCCCAGCCACCCGCCT GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCC ACCTGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGT TCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAG CCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC TTACCCACGACAAAGTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	51	0.0196	720	c.-40 others(731): Show c.-4056_-4055insTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGG AACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAG TAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTGGCTGGGAACTTT GTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGAGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGCG AGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGC TGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGC		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3868		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050096	T T	TTACCCAC others(713): Show TTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCC GCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCC AGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACA AAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCAC CCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTAC TCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTC CCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCCT ACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGT TCCCAGCCACCCGCCTGTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	164	0.0061	720	c.-41 others(731): Show c.-4108_-4107insGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGG CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG AGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA AGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3920		chr9	TogoVar
OSGIN1_chr16_83948240_83971332	83950915	G G	GCACACAC others(713): Show GCACACACGTACATGCACACATGAGCACATGTGCACACATGCACGTACAT ACTGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACACACTGGCACACACGTACACACACACGCACACATGAGCACATGT GCACACATGCACACACATGCACACATGAGCACATGTGCACACATGCACAC ATGAGCACATGTGCACACATGCACATACATACTAGCACACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACAC ACGTACACACATACACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACGTACACACACGCACACATGGGCACATGTGCACACATGC ACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACACGTACACACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACACGTACGCACATGTGCACACAT GCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	268	0.0037	720	c.-24 others(731): Show c.-2488_-2487insCACACACGTACATGCACACATGAGCACATGTGCA CACATGCACGTACATACTGGCACACGTACACACACGCACACATGAGCACA TGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCA CATGTGCACACATGCACATACACACTGGCACACACGTACACACACACGCA CACATGAGCACATGTGCACACATGCACACACATGCACACATGAGCACATG TGCACACATGCACACATGAGCACATGTGCACACATGCACATACATACTAG CACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACACACATACACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACGTACACACACGCACACATGGGCA CATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAG CACATGTGCACACATGCACATACATACTGGCACACACGTACACACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACG CACATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCA		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2324		chr16	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(713): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0001 a0002c0058t0001	a0002c0058t0001g0187 a0002c0058t0001g0187	1	148	0.0068	720	c.292 others(735): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(713): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTACTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19067.hp2 NA19060.hp1 NA19067.hp2	a0002 a0010 a0002 a0010	a0002c0083 a0010c0009 a0002c0083 a0010c0009	a0002c0083t0001 a0010c0009t0002 a0002c0083t0001 a0010c0009t0002	a0002c0083t0001g0193 a0010c0009t0002g0194 a0002c0083t0001g0193 a0010c0009t0002g0194	2	149	0.0134	720	c.292 others(735): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(713): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	182	0.0055	720	c.-26 others(731): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(713): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	182	0.0055	720	c.-26 others(731): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(713): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	182	0.0055	720	c.-26 others(731): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTC TATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(713): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	720	c.-26 others(731): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTC TATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(713): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0201	1	218	0.0046	720	c.129 others(737): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(713): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCA GAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGG CAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCT CACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCA GGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTC CTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGC CAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGC TCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTC CAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCG GCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGG GCTCCTCACATCCCAGACAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	348	0.0029	720	c.76+ others(735): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGC CAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGAC ACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCA GCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAG ACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT CCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAG AGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCAC ATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTG GGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGC AGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGAC TGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAAT		PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14						chr10	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(713): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCACCATCACCACCATCATCA CCACCACCACCACCATCACCATCACCATCACCACCACCATCACTACCATA ACCACCATCACCATCATCACCATCATTACCACCATCATCATCACCATCAC CACCACCATCATCACCACCATCATCACCATAACCACCACCACCACCATCA CCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATCACC ACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCACCAC CATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCACGA TTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACCACC ATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGCCAC CACCATCACCATCACCACCATCACCATCGCCACCATCACCATTATCATCA CCATTGTCACCATTATCACCATCATCACCATTATCACCATTATCCTCACC ATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0258 a0001c0002t0005g0259 a0001c0002t0005g0258 a0001c0002t0005g0259	2	71	0.0282	720	c.120 others(739): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGGTGGCGATGGTGATGGTGGTGATGGTGATGGTGGTGGC GCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGGTGGTGATGGTGG TGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATAATCGTG ATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGATGGTGGT GATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGGTGA TGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATG GTGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGTGAT GGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGG TAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGGT GATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTGTGATGG TGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTGATGATG ATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT		PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12						chr22	TogoVar
PTDSS2_chr11_445279_496399	459217	C C	CACACTCC others(713): Show CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGGACCTGGGTTA GACGTGAGGACACACTCTGGTGGATGTAGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	267	0.0037	720	c.183 others(735): Show c.183-834_183-833insCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTC TGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459217	C C	CACACTCC others(713): Show CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGG ACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGTAGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA TACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCTGG TGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	267	0.0037	720	c.183 others(735): Show c.183-891_183-890insTACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGGACCTGGGTTA GACGTGAGGACACACTCTGGTGGATGTAGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA TACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGTAGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459264	C C	CGGTGGAT others(713): Show CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	343	0.0029	720	c.183 others(735): Show c.183-874_183-873insAGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(713): Show GTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGATGGTGATGGT GATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGAT GGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGG TGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGT GATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGG TAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGG TGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTG ATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGT AATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAG TGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	199	0.0050	720	c.-46 others(731): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGATGGTGGT GATGATGGTGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGA TGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGAT GGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGG TGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA ATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGT GATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4635		chr10	TogoVar
RAB20_chr13_110518066_110566722	110530184	A A	ACAGACAC others(713): Show ACAGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGC AGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAG ACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGAC ACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACAC AGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAG GGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGG CCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCC CCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCC GGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGG GGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGG AGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAG GCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGC AGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGCAG GTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGCAGGT CCCACCCGCCCCACCTCTACG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0033 a0001c0003t0001g0033	1	116	0.0086	720	c.173 others(737): Show c.173-5988_173-5987insCGTAGAGGTGGGGCGGGTGGGACCTGCC TCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTC CCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCC CGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCG GGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGG GCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGC CCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCC TGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTG TGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTG TCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTC TGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG CGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCG TAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCGTA GAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCGTAGA GGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RASA3_chr13_113972783_114137623	114080987	T T	TCGGCAGA others(713): Show TCGGCAGAGGGCCGTACACCTAGAACACCAAGAGTGCCCCACGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCA ATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACCTAGAACACCA AGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACC TAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCA ATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	55	0.0182	720	c.56- others(735): Show c.56-7151_56-7150insTGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCT AGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACGG CCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCT AGGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCT AGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG TGGGGCACTCTTGGTGTTCTAGGTGTACGGCCCTCTGCCG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(713): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0233 a0006c0014t0001g0233	1	221	0.0045	720	c.205 others(735): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RIMBP2_chr12_130391133_130721299	130646118	A A	ACCACTTC others(713): Show ACCACTTCCCTCTCCACCTGCCTCACCACCTCCCTCTCCACCTCCCTCAC CACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTGCCTCTCCA CCTCCCTCTCCACCTCCCTCACCACCTCCCTCATCACCTCCCTCTCCACC TCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCGCCACCTC CCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCCC TCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTC ACCACCTGCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCAC CACCTCCCTCACCACCTGCCTCTCCACCTCCCTCTCCACCTCCCTCACCA CCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCACCACC TCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTC CCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCC TCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCTCCACCTCCCTC ACCACCTCCCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACCTCCCTCACCACCTGCCTCACCACCTCCCTCTCCACCTCCCTCACCA CCTCCCTCACCACCTGCCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0178 a0004c0012t0002g0178	1	158	0.0063	720	c.-35 others(741): Show c.-351-17663_-351-17662insAGAGGCAGGTGGTGAGGGAGGTGG TGAGGGAGGTGGAGAGGGAGGTGGTGAGGCAGGTGGTGAGGGAGGTGGTG AGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAG GGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAG GTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGT GGTGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGG TGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTG AGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAG GGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAG GTGGCGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGT GGAGAGGGAGGTGATGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGG AGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTG AGGGAGGTGGAGAGGGAGGTGGTGAGGCAGGTGGAGAGGGAAGTGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RPEL1_chr10_103240887_103253016	103251100	A A	ACCATCAC others(713): Show ACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCTCCAC CACCATCACCACCACCAACACCACCACCACCATCACCACCTCCACCACCA TCACCACCTCCACCACCACCATCACCACCTCCACCACAACCACCATCACC ACCACCACCATCACCACCTCCACCACCATCACCACCTCCACCACCATCAC CACCTCCACCATCACCACCACCACCACTATGACCACCTCCACCACCACCA CCACCACCACCATCACCACCTCCACCACCATCATCACCTCCACCACAACC ACCATCACCACCACCACCATCACCACCTGCACCACCATCACCACCTCCAC CACCATCACCACCACCTCCACCACTATCACCACCTCCACCACCACCACCA CCACCATCACCACCTCCACCACCATCACCACCTCCACCACCTCCACCACC ATCACCACCTCCACCACTACCACCACCACCACCAACACCACCACCATCAC CACCACCACCATCACCACCACCACCATCATCACCACCACCACCACCACCA CCATCACCACCTCCACCACCATCACCACCTCCACCACCATCACCACCTCC ACTACCATCACCACCTCCACCACCACCACCATCACCATCACCACCACCAC CACCTCCACCACCATCATCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCACCATCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	218	0.0046	720	c.44 others(731): Show c.4417_*4418insCCATCACCACCACCACCATCACCACCACCACCAC CATCACCACCTCCACCACCATCACCACCACCAACACCACCACCACCATCA CCACCTCCACCACCATCACCACCTCCACCACCACCATCACCACCTCCACC ACAACCACCATCACCACCACCACCATCACCACCTCCACCACCATCACCAC CTCCACCACCATCACCACCTCCACCATCACCACCACCACCACTATGACCA CCTCCACCACCACCACCACCACCACCATCACCACCTCCACCACCATCATC ACCTCCACCACAACCACCATCACCACCACCACCATCACCACCTGCACCAC CATCACCACCTCCACCACCATCACCACCACCTCCACCACTATCACCACCT CCACCACCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCC ACCACCTCCACCACCATCACCACCTCCACCACTACCACCACCACCACCAA CACCACCACCATCACCACCACCACCATCACCACCACCACCATCATCACCA CCACCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCCACC ACCATCACCACCTCCACTACCATCACCACCTCCACCACCACCACCATCAC CATCACCACCACCACCACCTCCACCACCATCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCATCACCT		RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding					3085		chr10	TogoVar
RPH3AL_chr17_207389_357807	220500	T T	TCAGCTCT others(713): Show TCAGCTCTGAGGCCTCCACTCACTGAGACAATAGGCCCAAGCACAACAGC TCTGAGGCCTCCACTCACTGAGACAACAAACCCAACAACAACAGCTCTGA GGCCTCCACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCT CCACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCTCCACT CACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGCCTCCACTCACTG AGACAATAGACCCAAGAACATCAGCTCTGAGTCCTCCACTCACTGAGACA ATAGACCCAAGCACATCAGCTCTCAGGCCTCCACTCGGTGAGACAATAGG CCCAAGCACAACAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAA GCACATCAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACA TCAGCTCTCAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACATCAGC TCTCAGGCCTCCACTCACTGAGACAATAGACCCAAGAACAACAGCTCTGA GGCCTCCACTCACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGCCT CCACTCACTGAGACAACAGACCCAAGAACAACAGCTCTGAGGCCTCCACT CACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGCCTCCACTCACTG AGACAACAGACCCAAGAACAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18999.hp1 NA19005.hp1 others(1): Show HG00323.hp1 NA18999.hp1 NA19005.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0024 a0001c0001t0009 a0001c0001t0019 a0001c0001t0024	a0001c0001t0009g0066 a0001c0001t0019g0011 a0001c0001t0019g0012 others(1): Show a0001c0001t0009g0066 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0024g0082	4	97	0.0412	720	c.614 others(735): Show c.614-765_614-764insTTGTTCTTGGGTCTGTTGTCTCAGTGAGTG GAGGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGC CTCAGAGCTGTTGTTCTTGGGTCTGTTGTCTCAGTGAGTGGAGGCCTCAG AGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTG TTGTTCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTGAGAGCTGATGTG CTTGGGTCTATTGTCTCACCGAGTGGAGGCCTGAGAGCTGATGTGCTTGG GTCTATTGTCTCACCGAGTGGAGGCCTCAGAGCTGATGTGCTTGGGTCTA TTGTCTCACCGAGTGGAGGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTC TCACCGAGTGGAGGCCTGAGAGCTGATGTGCTTGGGTCTATTGTCTCAGT GAGTGGAGGACTCAGAGCTGATGTTCTTGGGTCTATTGTCTCAGTGAGTG GAGGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGC CTCAGAGCTGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTCAG AGCTGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTG TTGTTGTTGGGTTTGTTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTG CTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	220788	C C	CTCACTGA others(713): Show CTCACTGAGACAATAGACCCAAGAACATCAGCTCTGAGTCCTCCACTCAC TGAGACAATAGACCCAAGCACATCAGCTCTCAGGCCTCCACTCGGTGAGA CAATAGGCCCAAGCACAACAGCTCTGAGGCCTCCACTCGGTGAGACAATA GACCCAAGCACATCAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCC AAGCACATCAGCTCTCAGGCCTCCACTCGGTGAGACAATAGACCCAAGCA CATCAGCTCTCAGGCCTCCACTCACTGAGACAATAGACCCAAGAACAACA GCTCTGAGGCCTCCACTCACTGAGACAATAGGCCCAAGCACAACAGCTCT GAGGCCTCCACTCACTGAGACAACAGACCCAAGAACAACAGCTCTGAGGC CTCCACTCACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGCCTCCA CTCACTGAGACAACAGACCCAAGAACAACAGCTCTGAGGCCTCCACTCAC TGAGACAATAGGCCCAAGCACATCAGCTCTGAGTCCTCCACTCACTGAGA CAATAGACCCAAGCACAACAGCTCTGAGGTCTCCACTCACTGAGACAATA GACCCAAGCACATCAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCC AAGCACAACAGCTCTGAGGGCTCCACTCACTGAGACAATAGACCCAAGTG CATCAGCTCTGAGGGCTCCAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 NA18940.hp1 others(2): Show HG00408.hp1 HG00544.hp1 NA18940.hp1 NA18983.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0004t0001	a0001c0001t0001g0110 a0001c0001t0002g0049 a0001c0001t0003g0080 others(2): Show a0001c0001t0001g0110 a0001c0001t0002g0049 a0001c0001t0003g0080 a0001c0001t0012g0005 a0001c0004t0001g0048	5	132	0.0379	720	c.614 others(737): Show c.614-1053_614-1052insCTGGAGCCCTCAGAGCTGATGCACTTGG GTCTATTGTCTCAGTGAGTGGAGCCCTCAGAGCTGTTGTGCTTGGGTCTA TTGTCTCACCGAGTGGAGGCCTCAGAGCTGATGTGCTTGGGTCTATTGTC TCAGTGAGTGGAGACCTCAGAGCTGTTGTGCTTGGGTCTATTGTCTCAGT GAGTGGAGGACTCAGAGCTGATGTGCTTGGGCCTATTGTCTCAGTGAGTG GAGGCCTCAGAGCTGTTGTTCTTGGGTCTGTTGTCTCAGTGAGTGGAGGC CTCAGAGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAG AGCTGTTGTTCTTGGGTCTGTTGTCTCAGTGAGTGGAGGCCTCAGAGCTG TTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTT CTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTGAGAGCTGATGTGCTTGG GTCTATTGTCTCACCGAGTGGAGGCCTGAGAGCTGATGTGCTTGGGTCTA TTGTCTCACCGAGTGGAGGCCTCAGAGCTGATGTGCTTGGGTCTATTGTC TCACCGAGTGGAGGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTCTCACC GAGTGGAGGCCTGAGAGCTGATGTGCTTGGGTCTATTGTCTCAGTGAGTG GAGGACTCAGAGCTGATGTTCTTGGGTCTATTGTCTCAGTGA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	340766	T T	TCCCACCC others(713): Show TCCCACCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGGCCT CCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACAC TCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCAC CCAGGCCTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCAC ATCCACACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTG CCCTGGGCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGC CTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCAC ACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCC ACCCAGGCCTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCC ACATCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCC ACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCC CCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCC CCACTTCCACACTCACTGCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp2 HG02818.hp1 others(4): Show HG00544.hp1 HG01884.hp2 HG02818.hp1 NA18940.hp1 NA19004.hp2 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0004t0001	a0001c0001t0002g0010 a0001c0001t0002g0049 a0001c0001t0002g0069 others(4): Show a0001c0001t0002g0010 a0001c0001t0002g0049 a0001c0001t0002g0069 a0001c0001t0006g0120 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0004t0001g0048	7	8	0.8750	720	c.-21 others(739): Show c.-212-6833_-212-6832insGGGCAGTGAGTGTGGAAGTGGGGAGG CCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGC AGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATG TGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG TGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAG TGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGATGTGGGGA GGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGG GCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGA TGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTG GGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGCCCAGGGCAGTG AGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTG GATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCC TGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743670	G G	GGCACAGC others(713): Show GGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT TACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCC TGGTTACGAGCACAGCCCTGGTTACGAGCACAGCCCTGGCTACTAGCACA GCCCTGGCTACTAGCACTGTCCTGGCTACGAGCACAGCCCTGGCTACTAG CAGAGCCCTGGCTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGTTA CTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTG GCTACTAGCACTGTCCTGGCTACGAGCACAGCCCTGGCTACTAGCAGAGC CCTGGCTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCA CAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACT AGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGT TACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCC TGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACT GTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAG CACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTA CTAGCACTGTCCTGGTTACGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0004 a0001c0004t0035g0004	1	184	0.0054	720	c.655 others(739): Show c.655-10292_655-10291insTTACGAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTAC GAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG CTACGAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACTCTC CTGGTTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACGA GCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTT ACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTAC TAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar

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