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
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(665): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGAC AAAAGTACCTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGT TGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCTTC CTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0021 a0003c0004t0002g0021	1	194	0.0052	672	c.56 others(683): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTAC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAAC TGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCT TGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAA AGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTT TTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTG ACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCC GGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCA GGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGG TGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGC GGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA		LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding					4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(665): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATTGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGA CAAAAGTACCTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGT TGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTC CTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0316 a0003c0004t0001g0316	1	194	0.0052	672	c.56 others(683): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACT GGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCT TGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAA AGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTT TTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCAATCTCCTG ACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCC GGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCA GGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGG TGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGC GGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA		LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding					4813		chr1	TogoVar
MAP3K19_chr2_134959491_135052447	135033467	C C	CCCCGGAC others(665): Show CCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGATGACCCCCCCACCTCCC TCCCGGAAGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCTGGGCAGAGGCCCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGG CCGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCCCACCTCCCAGCAGGGGTGGCTGGGCAGAGGCGCCCCCC ACCCCCCGGACGGGGCGGCCGGCCGGGGGGGCTAACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTG GCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGT GGGGGGCTTACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCG GGGGCTGACCCCCCCACCTCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	202	0.0050	672	c.-28 others(691): Show c.-283-2968_-283-2967insAGGGAGGTGGGGGGGTCAGCCCCCGC CCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTAAGCCCCCCACC CGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTTAGCCCCCCCGGCCGGCCGCCCCGTCCGGGGGGTGGG GGGCGCCTCTGCCCAGCCACCCCTGCTGGGAGGTGGGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCGGCCC GGCCAGCCGCCCCATCCGGGAGGTGAGGGGGGCCTCTGCCCAGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCACCCCTTCCGGGAGGG AGGTGGGGGGGTCATCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12						chr2	TogoVar
MAP3K19_chr2_134959491_135052447	135033467	C C	CCCCGGAC others(665): Show CCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGATGACCCCCCCACCTCCC TCCCGGAAGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCTGGGCAGAGGCCCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCGCCCTCCCAGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCCCACCTCCCAGCAGGGGCGGCTGGGCAGAGGCGCCCCCC ACCCCCCGGACGGGGCGGCCGGCCGGGGGGGCTAACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTG GCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCGGGCG GCGGCTGACCCCCCCACCTCCCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	202	0.0050	672	c.-28 others(691): Show c.-283-2968_-283-2967insAGGGAGGTGGGGGGGTCAGCCGCCGC CCGGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTTAGCCCCCCCGGCCGGCCGCCCCGTCCGGGGGGTGGG GGGCGCCTCTGCCCAGCCGCCCCTGCTGGGAGGTGGGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCTGGGAGGGCGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCATCCGGGAGGTGAGGGGGGCCTCTGCCCAGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCACCCCTTCCGGGAGGG AGGTGGGGGGGTCATCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12						chr2	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(665): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATAGAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TCATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATAATACATTTAATATAA TTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAA TATATAATATATTATATATAATTATATTATAACATATTATATATAATTAT ATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATA TAATTATATTCTATATATAATTATATATAATATAATTATATTCTATATAG AATATAATTATATATAATTATATTCTATATAGAATATAATTATATATAAT TATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	672	c.-32 others(683): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATATAA TTATATTCTATATAGAATATAATTATATATAATTATATTCTATATAGAAT ATAATTATATTATATATAATTATATATAGAATATAATTATATATTATAAC ATATTATATATAATTATATTATAGATTATGATCTATAATATAATTATATA TAATATGTTATAATATAATTATATATAATATATTATATATTATAATACTA TTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAAT GTATTATAATATATAATATAATTATATATGATATAATATATAATATAATT ATATATGATATAATATATAATATAATTATATATGATATAATATATAATAT AATTATATATGATATAATATATAATATAATTATATATGATATAATATATA ATATAATTATATATTATATCATATATAATATAATTATATATTATATAATA TATTTAATATAATTATATATAATATAATTATATTATATAATTATATTATA ATTATATAATATAGAATATAATTATATATTATATAATTATATTCTATATA GAATATAATTATATATTATATAATTATATTCTATAGAATATAATTATATA TTATATAATTATATTCTATATAGAATATAATTATATAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3129		chr19	TogoVar
MEI1_chr22_41694503_41804454	41759633	A A	AAATAAAT others(665): Show AAATAAATAAATAAATAAATAAATAAAAATAAAAATACAAAAATCAGCCG GGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAG GAGAATTGCTTGAACCCAGGAGGTGGAGGTTGGAGTGAGCCAAGCTCATG CCACTGCACTCCAGCCTGGGTGTCAGAGTGAGTGAGACTCCATCTCAAAA AGGATATAAAAATAAAAGGACTGTTCTTTCTTAAGCCGTAAGAAATAATT TATTGGGCCGGGTACGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACC AACAAGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGCCGGGTG CAGTGGCTCACTCCTGTAATCCCAGCTCTTTGGGAGGCCGAGATGGGTGG ATTACGAGGTCAGGAGATCGAGACCATCATGGCTAACACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCAGAGCTCTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp2 HG03098.hp2 others(3): Show HG02451.hp2 HG02809.hp2 HG03098.hp2 HG03579.hp1 NA18906.hp1 NA21309.hp2	a0005 a0011 a0005 a0011	a0005c0007 a0011c0014 a0005c0007 a0011c0014	a0005c0007t0004 a0011c0014t0004 a0005c0007t0004 a0011c0014t0004	a0005c0007t0004g0011 a0005c0007t0004g0012 a0005c0007t0004g0013 others(3): Show a0005c0007t0004g0011 a0005c0007t0004g0012 a0005c0007t0004g0013 a0005c0007t0004g0015 a0005c0007t0004g0016 a0011c0014t0004g0014	6	258	0.0233	672	c.212 others(691): Show c.2120+1126_2120+1127insAATAAAAATACAAAAATCAGCCGGGC ATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAG AATTGCTTGAACCCAGGAGGTGGAGGTTGGAGTGAGCCAAGCTCATGCCA CTGCACTCCAGCCTGGGTGTCAGAGTGAGTGAGACTCCATCTCAAAAAGG ATATAAAAATAAAAGGACTGTTCTTTCTTAAGCCGTAAGAAATAATTTAT TGGGCCGGGTACGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCC AAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAAC AAGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGCCGGGTGCAG TGGCTCACTCCTGTAATCCCAGCTCTTTGGGAGGCCGAGATGGGTGGATT ACGAGGTCAGGAGATCGAGACCATCATGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCAGAGCTCTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAATAAATAAATAAATAAATAAATAAA		MEI1	ENSG00000167077.13	transcript	ENST00000401548.8	protein_coding	18/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500184	A A	ATGATGGT others(665): Show ATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGT GATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGA TGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGT GGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAG TGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGT GGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGGTGGTGATGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGATGGCGATGGA GGTGGTAGTGGTGGTGATGAAGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	167	0.0060	672	c.748 others(689): Show c.748+1836_748+1837insATGGTGGTGATGGTGATGGAGGTGGCGG TGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGT GATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGA TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGAT GGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGG TGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGT GGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGT GGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGCGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(665): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCA CTAGGATGGAGTGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGA AGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGA GGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0024 a0024	a0024c0088 a0024c0088	a0024c0088t0011 a0024c0088t0011	a0024c0088t0011g0037 a0024c0088t0011g0037	1	130	0.0077	672	c.148 others(691): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCC CAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCACTCCATCCTAGTGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCC AGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(665): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGA GGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0112 a0112	a0112c0042 a0112c0042	a0112c0042t0001 a0112c0042t0001	a0112c0042t0001g0131 a0112c0042t0001g0131	1	130	0.0077	672	c.148 others(691): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCC AGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(665): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGA GGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0133 a0001c0003t0001g0134	2	131	0.0153	672	c.148 others(691): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCC AGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(665): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGA GGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(64): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01192.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02698.hp1 HG02895.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18971.hp1 NA18975.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA20300.hp2	a0001 a0005 a0007 others(24): Show a0001 a0005 a0007 a0012 a0017 a0018 a0022 a0025 a0026 a0031 a0032 a0046 a0048 a0052 a0053 a0063 a0079 a0096 a0099 a0103 a0104 a0106 a0107 a0110 a0113 a0115 a0116	a0001c0001 a0001c0003 a0001c0007 others(42): Show a0001c0001 a0001c0003 a0001c0007 a0001c0018 a0001c0019 a0001c0028 a0001c0062 a0001c0067 a0001c0071 a0001c0073 a0001c0074 a0001c0086 a0001c0091 a0005c0014 a0005c0016 a0005c0060 a0005c0079 a0007c0017 a0007c0072 a0007c0100 a0012c0013 a0017c0015 a0018c0050 a0022c0020 a0025c0069 a0025c0081 a0026c0048 a0031c0063 a0032c0077 a0046c0056 a0048c0040 a0052c0054 a0053c0046 a0063c0053 a0079c0133 a0096c0115 a0099c0132 a0103c0099 a0104c0084 a0106c0085 a0107c0057 a0110c0026 a0113c0080 a0115c0134 a0116c0039	a0001c0001t0001 a0001c0001t0016 a0001c0003t0001 others(43): Show a0001c0001t0001 a0001c0001t0016 a0001c0003t0001 a0001c0007t0002 a0001c0018t0001 a0001c0019t0002 a0001c0028t0001 a0001c0062t0001 a0001c0067t0001 a0001c0071t0001 a0001c0073t0001 a0001c0074t0001 a0001c0086t0001 a0001c0091t0001 a0005c0014t0001 a0005c0016t0001 a0005c0060t0002 a0005c0079t0001 a0007c0017t0010 a0007c0072t0001 a0007c0100t0001 a0012c0013t0001 a0017c0015t0001 a0018c0050t0001 a0022c0020t0001 a0025c0069t0001 a0025c0081t0001 a0026c0048t0001 a0031c0063t0001 a0032c0077t0001 a0046c0056t0001 a0048c0040t0001 a0052c0054t0001 a0053c0046t0001 a0063c0053t0001 a0079c0133t0001 a0096c0115t0001 a0099c0132t0001 a0103c0099t0001 a0104c0084t0001 a0106c0085t0001 a0107c0057t0001 a0110c0026t0001 a0113c0080t0001 a0115c0134t0001 a0116c0039t0001	a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0114 others(64): Show a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0016g0245 a0001c0003t0001g0022 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0001g0031 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0064 a0001c0003t0001g0083 a0001c0003t0001g0116 a0001c0007t0002g0020 a0001c0007t0002g0039 a0001c0018t0001g0084 a0001c0019t0002g0136 a0001c0019t0002g0137 a0001c0028t0001g0197 a0001c0062t0001g0069 a0001c0067t0001g0129 a0001c0071t0001g0030 a0001c0073t0001g0051 a0001c0074t0001g0023 a0001c0086t0001g0118 a0001c0091t0001g0138 a0005c0014t0001g0081 a0005c0014t0001g0097 a0005c0016t0001g0085 a0005c0060t0002g0075 a0005c0079t0001g0060 a0007c0017t0010g0005 a0007c0017t0010g0006 a0007c0072t0001g0115 a0007c0100t0001g0111 a0012c0013t0001g0087 a0012c0013t0001g0090 a0017c0015t0001g0108 a0018c0050t0001g0041 a0022c0020t0001g0028 a0022c0020t0001g0093 a0025c0069t0001g0059 a0025c0081t0001g0127 a0026c0048t0001g0096 a0031c0063t0001g0200 a0032c0077t0001g0095 a0046c0056t0001g0043 a0048c0040t0001g0135 a0052c0054t0001g0094 a0053c0046t0001g0098 a0063c0053t0001g0066 a0079c0133t0001g0016 a0096c0115t0001g0140 a0099c0132t0001g0032 a0103c0099t0001g0040 a0104c0084t0001g0102 a0106c0085t0001g0117 a0107c0057t0001g0086 a0110c0026t0001g0089 a0113c0080t0001g0103 a0115c0134t0001g0132 a0116c0039t0001g0112	67	196	0.3418	672	c.148 others(691): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCC AGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195779684	C C	CGTGTCCT others(665): Show CGTGTCCTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTG TCATCTGTGGAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGAAGCTGAGGAAAGGCCGGTAACAGGAAGAGGGGTGGCGTGAC CTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCT GTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGT GGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGG ATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGAT GCTGCGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATAC TGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTG AGGAAGGGCTGGTGACATGAAGAGAGGTGGCGTGACGTGTGGATAATGAG GAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGG AGTGTCGGTGACAGGTAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAG GGCTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGATACTGACGAAGCG TCGGTGACAAGAAGAGGGGTGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0202 a0003c0004t0003g0202	1	115	0.0087	672	c.118 others(683): Show c.11895_11896insACCACCCCTCTTCTTGTCACCGACGCTTCGTCAG TATCCACAGGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCA TCTACAGGTCACACCACCCCTCTACCTGTCACCGACACTCCCTCAGCATC CACAGGTGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCA CACGTCACGCCACCTCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACA GGTCACGCCACCTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGG TCATGCCACCCCTCTTCATGTCACCAACACTTCCGCAGCATCCACAGGTC ACGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGAC ACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGC CACCCCTCTTCCTGTCACCATCCCTTCCTCAGTATCCACAGGTGACACCA TGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTCACGCCACC CCTCTTCCTGTTACCGGCCTTTCCTCAGCTTCCACAGGTGACACCACCCC TCTTCCTGTCACCGACACTTCCTCAGCTTCCACAGATGACACCACCCGTC TTCCTGTCACCGACGTTTCCTCGGCATCCACAGGACAC	p.His others(687): Show p.His3965_Ala3966insThrThrProLeuLeuValThrAspAlaSer SerValSerThrGlyAspThrThrArgLeuProValThrSerProSerSe rAlaSerThrGlyHisThrThrProLeuProValThrAspThrProSerA laSerThrGlyAspThrThrProLeuProValThrAsnAlaSerSerLeu SerThrArgHisAlaThrSerLeuHisValThrSerProSerSerAlaSe rThrGlyHisAlaThrSerLeuProValThrAspThrSerSerValSerT hrGlyHisAlaThrProLeuHisValThrAsnThrSerAlaAlaSerThr GlyHisAlaThrProLeuProValThrSerLeuSerSerValSerThrGl yAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyH isAlaThrProLeuProValThrIleProSerSerValSerThrGlyAsp ThrMetProLeuProValThrSerProSerSerAlaSerThrGlyHisAl aThrProLeuProValThrGlyLeuSerSerAlaSerThrGlyAspThrT hrProLeuProValThrAspThrSerSerAlaSerThrAspAspThrThr ArgLeuProValThrAspValSerSerAlaSerThrGlyHis	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12007/16756	11895/16239	3965/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779869	G G	GGGGTGGT others(665): Show GGGGTGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGG GGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG TGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTG GCGTGACCTGTGGATGCTGCGGAAGTGTTGGTGACATGAAGAGGGGTGGC ATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGT GACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGAGGTGGCGTGA CGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGGTGGTGTGACCTG TAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGGTGTCACCTGTG GATACTGACGAAGCGTCGGTGACAAGAAGAGGGGTGGTGTGACCTGTGGA TACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATG CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGACCTGTGGATGCC GAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGA GGAAAGGCCGGTGACAGGAAGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02257.hp1 HG02257.hp1	a0059 a0059	a0059c0148 a0059c0148	a0059c0148t0012 a0059c0148t0012	a0059c0148t0012g0236 a0059c0148t0012g0236	1	221	0.0045	672	c.117 others(683): Show c.11710_11711insATCTTCCTGTCACCGGCCTTTCCTCAGCTTCCAC AGGTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCACAG GTCATGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGT GACACCACCCCTCTTCCTGGCACCGACACTTCCTCAGTATCCACAGGTCA CACCACCCCTCTTCTTGTCACCGACGCTTCGTCAGTATCCACAGGTGACA CCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCATCTACAGGTCACACC ACCCCTCTACCTGTCACCGACACTCCCTCAGCATCCACAGGTGACACCAC CCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACACGTCACGCCACCT CTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCACCTCT CTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCT TCATGTCACCAACACTTCCGCAGCATCCACAGGTCACGCCACCCCTCTTC CTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGT CACCATCCCTTCCTCAGTATCCACAGGTGACACCACCC	p.Thr others(687): Show p.Thr3903_Pro3904insHisLeuProValThrGlyLeuSerSerAla SerThrGlyAspThrThrArgLeuProValThrAsnValSerSerAlaSe rThrGlyHisAlaThrProLeuProValThrSerThrSerSerAlaSerT hrGlyAspThrThrProLeuProGlyThrAspThrSerSerValSerThr GlyHisThrThrProLeuLeuValThrAspAlaSerSerValSerThrGl yAspThrThrArgLeuProValThrSerProSerSerAlaSerThrGlyH isThrThrProLeuProValThrAspThrProSerAlaSerThrGlyAsp ThrThrProLeuProValThrAsnAlaSerSerLeuSerThrArgHisAl aThrSerLeuHisValThrSerProSerSerAlaSerThrGlyHisAlaT hrSerLeuProValThrAspThrSerSerValSerThrGlyHisAlaThr ProLeuHisValThrAsnThrSerAlaAlaSerThrGlyHisAlaThrPr oLeuProValThrSerLeuSerSerValSerThrGlyAspThrThrProL euProValThrAspAlaSerSerAlaSerThrGlyHisAlaThrProLeu ProValThrIleProSerSerValSerThrGlyAspThrThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11822/16756	11710/16239	3904/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781351	G G	GGAAGAGG others(665): Show GGAAGAGGGGTGGCGTGACCTGTGGATGCTGCGGAAGTGTTGGTGACATG AAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAA GAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGA GAGGTGGCGTGACGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGG GGTGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGG TGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTG GTGTCACCTGTGGATACTGACGAAGCGTCGGTGACAAGAAGAGGGGTGGT GTGACCTGTGGATACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGT CACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGA CCTGTGGATGCCGAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACC TGTGGAAGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTG TGGATGCTGAGGAAGGGCTAATGACAGGAAGAGGGGTGGTGTCACCTGTG GATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTGTGGA TGCTGAGGAAGTGTCGGTGACAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp2 HG03540.hp2 HG01884.hp2 HG03540.hp2	a0016 a0016	a0016c0152 a0016c0153 a0016c0152 a0016c0153	a0016c0152t0004 a0016c0153t0005 a0016c0152t0004 a0016c0153t0005	a0016c0152t0004g0241 a0016c0153t0005g0242 a0016c0152t0004g0241 a0016c0153t0005g0242	2	242	0.0083	672	c.102 others(683): Show c.10228_10229insTTGTCACCGACACTTCCTCAGCATCCACAGGACA GGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACA CCACCCCTCTTCCTGTCATTAGCCCTTCCTCAGCATCCACAGGTCACGCC ACCCCTCTTCATGTCACCGACGCTTCCTCAGCTTCCACAGGTGACACCAC CCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCACAGGTCATGCCACCC CTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCT CTTCCTGGCACCGACACTTCCTCAGTATCCACAGGTCACACCACCCCTCT TCTTGTCACCGACGCTTCGTCAGTATCCACAGGTGACACCACCCGTCTTC CTGTCACCAGCCCTTCCTCAGCATCTACAGGTCACACCACCCCTCTACCT GTCACCGACACTCCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGT CACCAATGCTTCCTCATTATCCACACGTCACGCCACCTCTCTTCATGTCA CCAGCCCTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCACC GACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCATGTCACCAA CACTTCCGCAGCATCCACAGGTCACGCCACCCCTCTTC	p.Leu others(687): Show p.Leu3409_Pro3410insLeuValThrAspThrSerSerAlaSerThr GlyGlnAlaThrProLeuProValThrSerLeuSerSerValSerThrGl yAspThrThrProLeuProValIleSerProSerSerAlaSerThrGlyH isAlaThrProLeuHisValThrAspAlaSerSerAlaSerThrGlyAsp ThrThrArgLeuProValThrAsnValSerSerAlaSerThrGlyHisAl aThrProLeuProValThrSerThrSerSerAlaSerThrGlyAspThrT hrProLeuProGlyThrAspThrSerSerValSerThrGlyHisThrThr ProLeuLeuValThrAspAlaSerSerValSerThrGlyAspThrThrAr gLeuProValThrSerProSerSerAlaSerThrGlyHisThrThrProL euProValThrAspThrProSerAlaSerThrGlyAspThrThrProLeu ProValThrAsnAlaSerSerLeuSerThrArgHisAlaThrSerLeuHi sValThrSerProSerSerAlaSerThrGlyHisAlaThrSerLeuProV alThrAspThrSerSerValSerThrGlyHisAlaThrProLeuHisVal ThrAsnThrSerAlaAlaSerThrGlyHisAlaThrProLeu	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10340/16756	10228/16239	3410/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784079	T T	TGGTGACA others(665): Show TGGTGACAGGAAGAGCGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTGAGGAAGGGCTAGT GACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGA CAGGAAGAGGGGTGGCGTGACCTGTGGATGCTAAGGAAGTGTCGGTGACA GGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATG AAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAA GCGGGGTGGCGTGACCGGTGGATATTGAGGAAGTGTCGGTGACAGGAAGA GAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAG GGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTCAGGAAGAGGGG TGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTG GTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGC CTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGCGTGGTGT CACCTGTGGATACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTAGCGTGA CCTGTGGACACTGAGGAAGCGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp2 HG01433.hp2	a0044 a0044	a0044c0147 a0044c0147	a0044c0147t0003 a0044c0147t0003	a0044c0147t0003g0208 a0044c0147t0003g0208	1	244	0.0041	672	c.750 others(681): Show c.7500_7501insGACGCTTCCTCAGTGTCCACAGGTCACGCTACCCCT CTTCCTCTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCT TCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTC CTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGA CACCGACACTTCCTCAGCATCCACAGGTCACGCCACCCTTCTTCCTGTCA CCGACACTTCCTCAGCATCCATAGGTCACGCCACCTCTCTTCCTGTCACC GACACTTCCTCAATATCCACCGGTCACGCCACCCCGCTTCCTGTCACCGA CACTTCCTCAGCATCCACAGGTCACGCCAACCCTCTTCATGTCACCAGCC CTTCCTCAGCATCCACCGGTCACGCCACCCCGCTTCCTGTCACCGACACT TCCTTAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCCTTTC CTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCT CAGCATCCACAGGTCACACCACCCCTCTTCCTGTCACCGACACTTCCTCA GCATCCACAGGTCAGGCCACCGCTCTTCCTGTCACC	p.Thr others(687): Show p.Thr2500_Ser2501insAspAlaSerSerValSerThrGlyHisAla ThrProLeuProLeuThrSerLeuSerSerValSerThrGlyAspThrTh rProLeuProValThrAspThrSerSerAlaSerThrGlyGlnAlaThrP roLeuProValThrSerLeuSerSerValSerThrGlyAspThrThrPro LeuProValThrAspThrSerSerAlaSerThrGlyHisAlaThrProLe uProAspThrAspThrSerSerAlaSerThrGlyHisAlaThrLeuLeuP roValThrAspThrSerSerAlaSerIleGlyHisAlaThrSerLeuPro ValThrAspThrSerSerIleSerThrGlyHisAlaThrProLeuProVa lThrAspThrSerSerAlaSerThrGlyHisAlaAsnProLeuHisValT hrSerProSerSerAlaSerThrGlyHisAlaThrProLeuProValThr AspThrSerLeuAlaSerThrGlyHisAlaThrProLeuProValThrSe rLeuSerSerValSerThrGlyAspThrThrProLeuProValThrSerP roSerSerAlaSerThrGlyHisThrThrProLeuProValThrAspThr SerSerAlaSerThrGlyGlnAlaThrAlaLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7612/16756	7500/16239	2500/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784560	A A	AGTGACAG others(665): Show AGTGACAGGAAGAGGGGTGGTGTCATCTGTGGACACTGAGGAAGCGTCGG TGACAAGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTG ACAGGAAGAGGGGTGGCGTCACCTGTGGATAATGAGGAAGGGCTAGTGTC AGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAG GCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGA AGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAG AGGCGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG GGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGG GTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGG TGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTG TCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCCTG ACCTGTGGATGCTGAGTAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCAC CTGTGGATGCTGAGGAAGTGTCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03540.hp1 HG03540.hp1	a0092 a0092	a0092c0102 a0092c0102	a0092c0102t0002 a0092c0102t0002	a0092c0102t0002g0182 a0092c0102t0002g0182	1	109	0.0092	672	c.701 others(681): Show c.7019_7020insCGACACTTCCTCAGCATCCACAGGTGACACCACCCC TCTTCCTGTCACCGACACTTACTCAGCATCCACAGGTCAGGCCACCCCTC TTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCCTCTT CCTGTCACCGACACTTCCTCAGCATCCACAGGTCACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTG TCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTGTCAC CGACACTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACCA GCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGAT GCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACCAGCCC TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGACACTAGCCCTT CCTCATTATCCACAGGTGACGCCACCCCTCTTCCTGTCACCAGCCCTTCC TCAGCATCCACAGGTGACACCACCTCTCTTCTTGTCACCGACGCTTCCTC AGTGTCCACAGATGACACCACCCCTCTTCCTGTCAC	p.Thr others(687): Show p.Thr2340_Ser2341insAspThrSerSerAlaSerThrGlyAspThr ThrProLeuProValThrAspThrTyrSerAlaSerThrGlyGlnAlaTh rProLeuProValThrAspThrSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspThrSerSerAlaSerThrGlyHisThrThrPro LeuProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuP roValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuPro ValThrAspThrSerSerAlaSerThrGlyAspThrThrProLeuProVa lThrSerLeuSerSerValSerThrGlyAspThrThrProLeuLeuValT hrAspAlaSerSerAlaSerThrGlyGlnAlaThrProLeuProValThr SerProSerSerAlaSerThrGlyAspThrThrProLeuProAspThrSe rProSerSerLeuSerThrGlyAspAlaThrProLeuProValThrSerP roSerSerAlaSerThrGlyAspThrThrSerLeuLeuValThrAspAla SerSerValSerThrAspAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7131/16756	7019/16239	2340/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788085	C C	CTGACCTG others(665): Show CTGACCTGTGGATCCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGT CACCTGTGGATGCTGAGGAAGTGCTGGTGAGAGGAAGAGGGGTGGCCTGA CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTG TGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTG GATAATGAGGAAGCATCGGTGACATGAAGAAGGGTGGCGTGACCTGTGGA TGCTGAGGAAGGGCTAGTGACAGGAAGAGGGGTGGTGTCATCTGTGGACA CTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGTGTCACCTGTGGATGCT GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTCACCTGTGGATAATGA GGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGG AAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAA GCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAG GCTGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGC TGGTGACAGGAAGAGGGGTGGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03130.hp2 HG03130.hp2	a0086 a0086	a0086c0156 a0086c0156	a0086c0156t0012 a0086c0156t0012	a0086c0156t0012g0239 a0086c0156t0012g0239	1	221	0.0045	672	c.349 others(681): Show c.3494_3495insCGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGT ATCCACAGGTGACACCACGCCTCTTCCTGTCACCAGCCTTTCCTCAGTAT CCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCC ACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCAC AGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCTCATTATCCACAG GTGACGCCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGT GACACCACCTCTCTTCTTGTCACCGACGCTTCCTCAGTGTCCACAGATGA CACCACCCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTCACG CCACCCTTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGTGACACC ACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCAC CCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCC CTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCT CTTCCTCTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCTCT TCCTGTCACCGACACTTCCTCAGGATCCACAGGTCA	p.Gly others(687): Show p.Gly1164_Gln1165insHisAlaThrProLeuProValThrSerLeu SerSerValSerThrGlyAspThrThrProLeuProValThrSerLeuSe rSerValSerThrGlyAspThrThrProLeuLeuValThrAspAlaSerS erAlaSerThrGlyGlnAlaThrProLeuProValThrSerProSerSer AlaSerThrGlyAspThrThrProLeuProValThrSerProSerSerLe uSerThrGlyAspAlaThrProLeuProValThrSerProSerSerAlaS erThrGlyAspThrThrSerLeuLeuValThrAspAlaSerSerValSer ThrAspAspThrThrProLeuProValThrSerProSerSerAlaSerTh rGlyHisAlaThrLeuLeuHisValThrAspAlaSerSerLeuSerThrG lyAspThrThrProLeuProValThrAspThrSerSerAlaSerThrGly AspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyAs pThrThrProLeuProValThrAspThrSerSerAlaSerThrGlyGlnA laThrProLeuProLeuThrSerThrSerSerAlaSerThrGlyAspThr ThrProLeuProValThrAspThrSerSerGlySerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3606/16756	3494/16239	1165/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788098	G G	GCTGAGGA others(665): Show GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGC TGAGGAAGTGCTGGTGAGAGGAAGAGGGGTGGCCTGACCTGTGGATGCTG AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAG GAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGA AGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATAATGAGGAAG CATCGGTGACATGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGGG CTAGTGACAGGAAGAGGGGTGGTGTCATCTGTGGACACTGAGGAAGCGTC GGTGACAAGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGG TGACAGGAAGAGGGGTGGCGTCACCTGTGGATAATGAGGAAGGGCTAGTG ACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGAC AGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAA GAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGA AGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAG AGGGGTGGCGTGACCTGTGGATA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01192.hp2 HG01346.hp2 HG02145.hp2 HG01192.hp2 HG01346.hp2 HG02145.hp2	a0038 a0043 a0058 a0038 a0043 a0058	a0038c0161 a0043c0103 a0058c0162 a0038c0161 a0043c0103 a0058c0162	a0038c0161t0015 a0043c0103t0004 a0058c0162t0009 a0038c0161t0015 a0043c0103t0004 a0058c0162t0009	a0038c0161t0015g0234 a0043c0103t0004g0238 a0058c0162t0009g0237 a0038c0161t0015g0234 a0043c0103t0004g0238 a0058c0162t0009g0237	3	222	0.0135	672	c.348 others(681): Show c.3481_3482insTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCA GCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACCAGC CTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGC TTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTT CCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCC TCATTATCCACAGGTGACGCCACCCCTCTTCCTGTCACCAGCCCTTCCTC AGCATCCACAGGTGACACCACCTCTCTTCTTGTCACCGACGCTTCCTCAG TGTCCACAGATGACACCACCCCTCTTCCTGTCACTAGCCCTTCCTCAGCA TCCACAGGTCACGCCACCCTTCTTCATGTCACCGATGCTTCCTCATTATC CACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCA CAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACA GGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGG TCAGGCCACCCCTCTTCCTCTCACCAGCACTTCCTCAGCATCCACAGGTG ACACCACCCCTCTTCCTGTCACCGACACTTCCTCAG	p.Ser others(687): Show p.Ser1160_Ala1161insValSerThrGlyHisAlaThrProLeuPro ValThrSerLeuSerSerValSerThrGlyAspThrThrProLeuProVa lThrSerLeuSerSerValSerThrGlyAspThrThrProLeuLeuValT hrAspAlaSerSerAlaSerThrGlyGlnAlaThrProLeuProValThr SerProSerSerAlaSerThrGlyAspThrThrProLeuProValThrSe rProSerSerLeuSerThrGlyAspAlaThrProLeuProValThrSerP roSerSerAlaSerThrGlyAspThrThrSerLeuLeuValThrAspAla SerSerValSerThrAspAspThrThrProLeuProValThrSerProSe rSerAlaSerThrGlyHisAlaThrLeuLeuHisValThrAspAlaSerS erLeuSerThrGlyAspThrThrProLeuProValThrAspThrSerSer AlaSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerAl aSerThrGlyAspThrThrProLeuProValThrAspThrSerSerAlaS erThrGlyGlnAlaThrProLeuProLeuThrSerThrSerSerAlaSer ThrGlyAspThrThrProLeuProValThrAspThrSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3593/16756	3481/16239	1161/5412			chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158668042	C C	CCTTACCC others(665): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTT ACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGG TCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA CTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	253	0.0040	672	c.148 others(691): Show c.1480-3293_1480-3292insAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NFATC1_chr18_79390930_79534323	79494297	G G	GCGGGCAC others(665): Show GCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGG GCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCAC ACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGC CCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATG AACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGA CCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGCGGCCGGGGGAAGGCGAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0197 a0001c0008t0014g0197	1	319	0.0031	672	c.278 others(691): Show c.2782+7378_2782+7379insCGACCTGGTGCGGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACG GGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGG CACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCA CACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC ATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT CGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGA ACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCACACGCCCCCCAT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494325	A A	ACGGCCGG others(665): Show ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGC GGCCGGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGCGGCC GGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGG GAAGGCGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTACGGCCGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGG GCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATGAACCTGGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp1 HG02280.hp1 HG03041.hp1	a0001 a0006 a0001 a0006	a0001c0018 a0006c0052 a0001c0018 a0006c0052	a0001c0018t0004 a0006c0052t0037 a0001c0018t0004 a0006c0052t0037	a0001c0018t0004g0303 a0006c0052t0037g0180 a0001c0018t0004g0303 a0006c0052t0037g0180	2	310	0.0065	672	c.278 others(691): Show c.2782+7426_2782+7427insGAACCTGGTGCGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGG CACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATCAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC ATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT CGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGA ACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NRG1_chr8_32543311_32779046	32543523	A A	ATGACCTG others(665): Show ATGACCTGAGCGTGTGGCACTGCCTCCAGACTCATTCTGGCCTGGACCTC CTTTCTGGGGAGCCTGCTGCTGTCTGGCAGGCTTCCAGAATGGACCGTAG CCCACTCGCTAGATGAGAGTGGCAAACGCATCCAGAAGCAAAGACGAGGA AAAAAAAAAAACAATCAAGATTTGGCCTCATCTAATGTTCATGGTTCTTA AAATAAATGTATTGCTTGACAGAGGAAGTAACCCATACACAAAGTCTCTA CTACCCCAAATCAAGTGAGTCACATCTGTTGGCAGCGAGCACAATAAATA ACAAAACTCACCTGGGCTCCCCATCGTTTCCCTTTAAAACAATCATCTCT TGTCAGAACACACAAAATATCTTCCATCTTAATCTCAGAAACGCTGTAAA AGGAAGGGCACAGCAAGGTAACTTTTTGCTCTTTCAAAAACACCCAAGAC CTTGATGCACAAAACTGGCCTATTCTTGAGCTAATTAGACATGAAGTAGA AGTGACACCTTCCTAGGAAAGGAAATATTTTCCTAAACCCTTAGGAATTG AGAAGGGGACCTCCATGATATTAAAGGGACAGGATGATATTCCTGACAAT TTCTTTCCTCTCTGATGAATTTAAAATAGGCTACATTTAGAATTTCCTTA ATAGAGATTATGTCATTATTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0091 a0005c0005t0091	a0005c0005t0091g0113 a0005c0005t0091g0113	1	242	0.0041	672	c.-52 others(683): Show c.-5204_-5203insTGACCTGAGCGTGTGGCACTGCCTCCAGACTCAT TCTGGCCTGGACCTCCTTTCTGGGGAGCCTGCTGCTGTCTGGCAGGCTTC CAGAATGGACCGTAGCCCACTCGCTAGATGAGAGTGGCAAACGCATCCAG AAGCAAAGACGAGGAAAAAAAAAAAACAATCAAGATTTGGCCTCATCTAA TGTTCATGGTTCTTAAAATAAATGTATTGCTTGACAGAGGAAGTAACCCA TACACAAAGTCTCTACTACCCCAAATCAAGTGAGTCACATCTGTTGGCAG CGAGCACAATAAATAACAAAACTCACCTGGGCTCCCCATCGTTTCCCTTT AAAACAATCATCTCTTGTCAGAACACACAAAATATCTTCCATCTTAATCT CAGAAACGCTGTAAAAGGAAGGGCACAGCAAGGTAACTTTTTGCTCTTTC AAAAACACCCAAGACCTTGATGCACAAAACTGGCCTATTCTTGAGCTAAT TAGACATGAAGTAGAAGTGACACCTTCCTAGGAAAGGAAATATTTTCCTA AACCCTTAGGAATTGAGAAGGGGACCTCCATGATATTAAAGGGACAGGAT GATATTCCTGACAATTTCTTTCCTCTCTGATGAATTTAAAATAGGCTACA TTTAGAATTTCCTTAATAGAGATTATGTCATTATTTCT		NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding					4787		chr8	TogoVar
OLFML1_chr11_7480506_7516377	7491543	T T	TTCTCTAT others(665): Show TTCTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGTTAGGCA CTGTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTCT GTTAGTAACTATGCCTATATCGGTTCTCATGCTATACAACAAATTACCAT AGATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGTG GGTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTTGGA ATGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTATGCA CACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATCGGTTC TCATGCTATACAACAAATTACCATAGATTTAGCATCTTAAAACAATACAC ATTTACTACCTCAGAGTTTCTGTGGGTCAGGAGTCCATGCATGGCTTAGT CTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGTTAGGCACT GTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTCTGT TAGTAACTATGCCTATATCGGTTCTCATGCTATACAACAAATTACCATAG ATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGTGGG TCAGGAGTCCATGCATGGCTTAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02109.hp2 others(8): Show HG00639.hp1 HG01243.hp2 HG02109.hp2 HG02451.hp2 HG02630.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0003c0003t0016	a0001c0001t0003g0058 a0001c0001t0003g0143 a0001c0001t0003g0146 others(8): Show a0001c0001t0003g0058 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0005g0224 a0001c0001t0008g0138 a0001c0001t0008g0139 a0003c0003t0016g0223	11	326	0.0337	672	c.418 others(689): Show c.418+3248_418+3249insGGTTCTCATGCTATACAACAAATTACCA TAGATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGT GGGTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTTGG AATGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTATGC ACACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATCGGTT CTCATGCTATACAACAAATTACCATAGATTTAGCATCTTAAAACAATACA CATTTACTACCTCAGAGTTTCTGTGGGTCAGGAGTCCATGCATGGCTTAG TCTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGTTAGGCAC TGTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTCTG TTAGTAACTATGCCTATATCGGTTCTCATGCTATACAACAAATTACCATA GATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGTGG GTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTTGGAA TGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTATGCAC ACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATC		OLFML1	ENSG00000183801.8	transcript	ENST00000329293.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(665): Show CTATAGATAGACATATAGATGTATCTATAGATAGACATATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	182	0.0055	672	c.-26 others(683): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TATGTCTATCTATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(665): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	672	c.-26 others(683): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATG TCTATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PDCD6_chr5_266646_319974	318220	C C	CACTCACC others(665): Show CACTCACCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTG CACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCAC CCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCC TCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCC CCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTA CCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTT CACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTC CCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCAC CTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCAT CTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCAT CCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	342	0.0029	672	c.37 others(683): Show c.3705_*3706insACTCACCCTCCACCTCCCCCCTCACCCTCCACCT CCCCCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCC TTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAAT CCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCC CCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACC TCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA CCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCC CCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCC CCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCC TGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACC CTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding					3247		chr5	TogoVar
PIWIL1_chr12_130332887_130377637	130338277	G G	GGATGCAG others(665): Show GGATGCAGGAGCCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGG TGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGG CGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCC CAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCG GGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGC AGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCG GGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGG GGCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGT CCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTG CGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGAT GCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGC CAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCG GGGTCGAGGTCCCAGGTGCGGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0284 a0001c0001t0007g0284	1	247	0.0040	672	c.-13 others(687): Show c.-13+143_-13+144insAGATGCGGTGGCGAGGTCGCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGG AGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGAT GCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTC GAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCC AGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGG GAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCA GGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGG GTGCGGGGGCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGG GCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTC CCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGC GGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATG CAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCC GGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCC		PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGATAT others(665): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAGATA TCTGTGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGATA TCTATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGA TATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATC TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATATCTAGAGATGTCTATAGATTAGATATCT ATGATATCTAGAGATGTCTATAGATTAGATATCTATGATGTCTAGAGATT TCTATAGATTAGATATCTATGATATCTCGAGATATCTATAGATTAGATAT CTATGATATCTCGAGATATCTATAGATTAGATATCTATGATATCTAGAGA TATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0024	a0003c0003t0024g0339 a0003c0003t0024g0339	1	221	0.0045	672	c.176 others(691): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATAGATA TCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGAAAT CTCTAGACATCATAGATATCTAATCTATAGACATCTCTAGATATCATAGA TATCTAATCTATAGACATCTCTAGATATAGATATCTAATCTATAGATATC TCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGAT ATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATA TCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAG ATATCTAATCTATAGATATCTCTAGATATCTATCTAATCTATAGATATCT CTAGATATCATAGACATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCTAGATATCATAGATATCCAATCTATAGATAT CTCTAGATATAGATATCCAATCTATAGATATCTCTAGATATCACAGATAT CTAATCTATAGATATCTCTAGATAGCATAGATATCTAATCTATAGATATC TCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCAT		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9						chr5	TogoVar
PLCB4_chr20_9064087_9485808	9188524	T T	TAGTGACA others(665): Show TAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATA GTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGT GACATTCTGGGTTGGTTAACTGTTCACTGTGGAGGGCTGTCATATAGTGA CATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACA TTCTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATT CTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCT GGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGG GTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGT TGGTTAAGTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTG GTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGT TAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTA AGTGTTCGTTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAAC TGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAACTG TTCATTGTGGAGGGCTGTCATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	116	0.0086	672	c.-78 others(691): Show c.-78-28819_-78-28818insTAGTGACATTCTGGGTTGGTTAAGTG TTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTT CACTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCA TTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAATTGTTCATT GTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGT GGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGG AGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGGAG GGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGG CTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCT GTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGT CATACAGTGACATTCTGGGTTGGTTAAGTGTTCGTTGTGGAGGGCTGTCA TATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA CAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATACA GTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39					INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(665): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAG GAAGGACAGAGAGGAGGGAAGGAAGGAAGGGCAGAGACGAGGGAAGGAAG GAAGGGCAGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGG GAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGA GAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGG GGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGA GGGAAGGAAGGGGGAGAGGAGGAAAAGAAGGGGGAGAGGAGGAAAGGAAG GTGGGAGAGGAGGAAAGGAAGGGGGAGAGGAGGAAAGGAAGGGGGGAGAG GAGGAAAGGAAGGGGGAGAGGGAGGGAGGAAGGGGGAGGGAGGGAGGGAG GAAGGAAGGAAGGAAGCAAGCAAGCAAGCAAAGCTGCTCAGAAGCTAACT TCAGGAAGAAGGGAGGGAAGCTAACTTCAGAAGCTAACTTCAGGAGGGAG GGAAGGAAGGAAGGGAAGAAGGAGGGAAGGGAGGTAGGAAGGAGGGAGGG AAGGGAGGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0021 a0001c0022t0021	a0001c0022t0021g0045 a0001c0022t0021g0045	1	16	0.0625	672	c.88+ others(691): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGCTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTC TCCCCCCTTCCTTTCCTCCTCTCCCCCTTCCTTTCCTCCTCTCCCACCTT CCTTTCCTCCTCTCCCCCTTCTTTTCCTCCTCTCCCCCTTCCTTCCCTCC TCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCC TTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCTCT CCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCC CCTTCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTCTCTGCCCTTCCTT CCTTCCCTCGTCTCTGCCCTTCCTTCCTTCCCTCCTCTCTGTCCTTCCTT CCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCC CTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCTC		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30						chr20	TogoVar
RAB20_chr13_110518066_110566722	110530184	A A	ACAGACAC others(665): Show ACAGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGC AGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAG ACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGAC ACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACAC AGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAG GGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGG CCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCC CCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCC GGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGG GGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGG AGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAG GCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGC AGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGCAG GTCCCACCCGCCCCACCTCTACG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG01891.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0371 a0001c0003t0001g0034 a0001c0003t0001g0371	2	117	0.0171	672	c.173 others(689): Show c.173-5988_173-5987insCGTAGAGGTGGGGCGGGTGGGACCTGCC TCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTC CCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCC CGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCG GGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGG GCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGC CCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCC TGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTG TGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTG TCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTC TGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG CGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCG TAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCGTA GAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RABL6_chr9_136802948_136846187	136803012	G G	GGGGCCCC others(665): Show GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	315	0.0032	672	c.-51 others(683): Show c.-5185_-5184insGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC		RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding					4935		chr9	TogoVar
ROBO2_chr3_77035099_77654964	77323064	T T	TATATTAT others(665): Show TATATTATGGATAATATAATATATTATATTATATTATGGATAATATAATA TAATATATTATATTATCGATAATATAATATCTTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATATTATGGATAATATATTATATT ATGGATAATATATTATGGATAATATATTATATTATGGATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATAATATATTATATTATATTATGGATAATATAATATAATATATTATATTA TGGATAATATAATATAATATATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	130	0.0077	672	c.389 others(693): Show c.389-154324_389-154323insATTATATTATGGATAATATAATAT AATATATTATATTATCGATAATATAATATCTTATATTATGGATAATATAA TATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATATTATATTATGGATAATATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATATTATATTATGGATAATATAATATATTATATTATG GATAATATATTATATTATGGATAATATATTATGGATAATATATTATATTA TGGATAATATATTATGGATAATATATTATATTATGGATAATATATTATAT TATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATATTATGGATAATATAATATAATATATTATATTAT GGATAATATAATATAATATATCATATTATGGATAATATAATATATTAT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	272932	A A	ATCAGGGA others(665): Show ATCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAG GGCGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCC AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGAGTGACTTCAGGGTGA GACCCCGGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACGTCA GGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCG ACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCG AGGGTGACGTCAGGGTGAGACCCCAGCGAGGGCGACATCAGGAAGAGACC CCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGA GAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGT CAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGG CGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAG CGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGA CCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGG GTGAGACCCCAGCGAGGGTGACG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	123	0.0081	672	c.438 others(689): Show c.438+8835_438+8836insCGTCACCCTCGCTGGGGTCTCACCCTGA AGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCT CCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGG GTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTC GCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTC ACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCT GACGTCACCCGCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCT CTTCCTGATGTCGCCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTG GGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCC TCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACG TCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCCGGGGTCTCACC CTGAAGTCACTCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGT CTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGC TGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	273212	G G	GTCAGGGA others(665): Show GTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCG GGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCC AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAAGA GACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACGTCA GGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTG ACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCG CGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACC CCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAA GAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGT CAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGG TGACGTCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAG CGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGA CCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGG AAGAGACCCCAGCGCGGGTGACT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	105	0.0095	672	c.438 others(689): Show c.438+8555_438+8556insAGTCACCCGCGCTGGGGTCTCTTCCTGA CGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCA CCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGG GTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGACGTCACCCTC GCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGACGTC ACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCT GACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCT CACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTG GGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCC TCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACG TCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTTC CTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGT CTCTCCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGC TGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
SAMD11_chr1_918923_949574	934833	C C	CCGTTACA others(665): Show CCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGG TGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTG CTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC TGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTA CAGGTGGGCGGGGGGGGCGGCTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0188 a0003c0006t0003g0188	1	293	0.0034	672	c.843 others(687): Show c.843-920_843-919insGGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGG TGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTG CTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC TGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290009	C C	CCTGCTCC others(665): Show CCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	140	0.0071	672	c.166 others(689): Show c.1663-250_1663-249insCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SFMBT2_chr10_7153624_7416034	7378215	T T	TGGATGGA others(665): Show TGGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGG TGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGATGGATGGGTG TGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTG TGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGATGGATGGGTGT GAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTGT GAGTGTGGGTGTGTGTGGATGTATGTGTGGATGGGTGATGGATGGGTGTG AGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTGTG AGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTGTG AGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGTGAGTGTGGGTGTG TGTGGGTGTATGTGTGGATGGGTGATGGATGGGTGTGAGTGTGGGTGTGT GTGGGTGTATGTGTGGATGGGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG02257.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0100 a0001c0001t0004g0098 a0001c0001t0003g0100 a0001c0001t0004g0098	2	27	0.0741	672	c.100 others(689): Show c.100+3583_100+3584insCACCCATCCACACATACACCCACACACA CCCACACTCACACCCATCCATCACCCATCCACACATACACCCACACACAC CCACACTCACACCCATCCACACATACACCCACACACACCCACACTCACAC CCATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACAC CCATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACAC CCATCCATCACCCATCCACACATACATCCACACACACCCACACTCACACC CATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACACC CATCCATCACCCATCCACACATACACCCACACACACCCACACTCACACCC ATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACACCC ATCCATCACCCATCCACACATACACCCACACACACCCACACTCACACCCA TCCACACATACACCCACACACACCCACACTCACACCCATCCATCCACCCA TCCACACATACACCCACACACACCCACACTCACACCCATCCATCCACCCA TCCACACATACACCCACACACACCCACACTCACACCCATCCATCACCCAT CCACACATACACCCACACACACCCACACTCACACCCATCCATCC		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20						chr10	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	C C	CTAAAGAC others(665): Show CTAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAAC AGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAA AGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAG TGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGAC ATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCC TGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTA CAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTA GGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAA ACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGAT AAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAG AGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAG ACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTG CCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACAT TACAAAACAGAGTGCCTGTAGGA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	180	0.0056	672	c.331 others(689): Show c.331-2651_331-2650insTCCTACAGGCACTCTGTTTTGTAATGTC TTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTC TGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTA TCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTT TTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCT ACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGT AATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAG GCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATG TCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCAC TCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTT TATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTG TTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATC CTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTT GTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTA		SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8						chr3	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(665): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGG GGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGG GAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02027.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	4	0.5000	672	c.12 others(683): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCC CATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCT CCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTC TGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTC CTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTC CCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTC CCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTT CCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC		SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding					1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(665): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG ATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGA GGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGGAGGAGGGAGGG GGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGA AGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGAGGAGGGA GGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGAAG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	672	c.12 others(683): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCT TCCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTTCCCCCTCC CCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCC CCTTCGCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCC CCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCT CCCCCCCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCTCCCTC CTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCT CCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTC TGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTC CTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTC CCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTC CCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTT CCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC		SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding					1134		chr19	TogoVar
SMOC2_chr6_168436184_168672992	168594264	C C	CGGGCATC others(665): Show CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CGCGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGAGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTG AGGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCT TCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCC TCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTC CTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCGCCGAGCTCCT CCTCCTTCCTGAGGCCTCACGAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18944.hp2 NA19088.hp2 others(1): Show HG02293.hp1 NA18944.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0097 a0001c0002t0002g0014 a0001c0002t0002g0019 others(1): Show a0001c0001t0001g0097 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0020	4	126	0.0317	672	c.638 others(689): Show c.638-4535_638-4534insGGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCGCGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGAGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCT GAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCC TGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCC TTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTC CTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCT CCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCC TCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGAT		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
TBXAS1_chr7_139824264_140025293	139950658	T T	TCCCTCGC others(665): Show TCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGG ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	221	0.0045	672	c.451 others(689): Show c.451-2705_451-2704insGCCCTCCATCTACGGGATCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGG ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF25_chr16_89868592_89916379	89908688	A A	ACCTCCCT others(665): Show ACCTCCCTCCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCAGTTCCCG CCTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAG CTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGC TCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCT CCCACCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTC CCATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCC CAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCT AGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCT CCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGC CTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACC TCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCT CCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTC CCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCCAGCTCCCACCTTC CAGCTCCCAGCTCCCAGCTCCCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03540.hp2 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0180 a0001c0001t0001g0188	2	214	0.0093	672	c.179 others(691): Show c.1799+1372_1799+1373insTCCTCCCAGCTCCCACCTCCCTCCTC CCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCC AGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCC AGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCA CCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCAC CTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACC TCCCAGCTCCCACCTTCCAGCTCCCAGCTCCCAGCTCCCGCCTCCC		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908710	C C	CCTCCCTC others(665): Show CCTCCCTCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCAC CTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACC TTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCT CCCTCCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCTCCTCCCACCTC CCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGC CACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCC ACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCA GCTCCCTCCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGC CTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCC TCCCAGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCT CCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTC CCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCC CACCTCCTTCCTCGCAGTTCCCACCTCCCAGCTCCCACCTTCCAGCTCCC AGCTCCCGCCTCCCGCCTCCCAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	104	0.0096	672	c.179 others(691): Show c.1799+1393_1799+1394insTCCTCCCACCTCCCAGTTCCCGCCTC CCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCC CACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCC GGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCG CCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCAT CTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGT TCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTT CCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCTCCTTTCACCTC CCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTC CAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCTCCCAGCTCCC ACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCA CCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTC CTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGC TCCCACCTTCCAGCTCCCAGCTCCCGCCTCCCGCCTCCCAGCTCCC		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(665): Show CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACC CCACAACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATC CACAGTCACCACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	98	0.0102	672	c.228 others(691): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290216	A A	ACCGCGCC others(665): Show ACCGCGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACAGTGCC TCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCAC CCTACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACG TGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGG ACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGACACCCGG GGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACCGCG CCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACCGCGCCTCACTC ACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCA CGGGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAG GGACACCCGGGGGCCGTGCCTCACTCACCCTACACGTGACAGAGACACCC GGGGGCCGTGCCTCACTCACCCTGCACATGACAGGGACACCCGGGGGCCG TGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTCACTCACCCTA CACGTGACAGGGACACCCGGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0189 a0001c0008t0002g0189	1	299	0.0033	672	c.157 others(691): Show c.1573+3096_1573+3097insCCCCCGGGTGTCCCTGTCACGTGTAG GGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTG AGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGG CCCCCGGGTGTCCCTGTCATGTGCAGGGTGAGTGAGGCACGGCCCCCGGG TGTCTCTGTCACGTGTAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTG TCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCCCGTGC AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAG TGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGGCGC GGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCG GGTGTCTCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCC TGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTG AGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC ACTGTCCCCGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGGCGCGG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290288	G G	GGACACCC others(665): Show GGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACACCC GGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCG TGCCTCACTCACCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTGCACGTGAC AGGGACATCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGACAT CCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGAC GGCGCCTCACTCACCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTC ACTCACCCTACACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCC TGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGG ACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCC TCACTCACCCTGCACGTGACAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	357	0.0028	672	c.157 others(691): Show c.1573+3024_1573+3025insTCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTC CCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCAC GTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGG TGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAG GCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGATG TCTCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGATGTCCCTGTC ACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTG AGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGAGGCACGG CCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGG TGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290640	T T	TGCCTCAC others(665): Show TGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGAC AGAGACACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACAC CCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGAC GGCGCCTCACTCACCCTGCACGTGACAGAGACATCCGGGGACGGCGCCTC ACTCACCCTGCACGGGACAGGGACACCCGGGGACGGCGCCTCACTCACCC TGCACGTGACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGAC ACCCGGGGACCGCGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGG ACAGTGCCTCACTCACCCTGCACGTGACAGGGACACCCAGGGGCCGCGCC TCACTCACCCTACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCAC CCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACG TGACAGAGACACCCGGGGACGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02922.hp1 others(2): Show HG01243.hp1 HG02559.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 others(2): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223	5	201	0.0249	672	c.157 others(691): Show c.1573+2672_1573+2673insGCCGTCCCCGGGTGTCTCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG AGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGC GCGGCCCCTGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACTGTCCC CGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTC CCTGTCACGTGTAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCAC GTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGG TGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAG GCGCCGTCCCCGGATGTCTCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTG TCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTC ACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTG AGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(665): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATACATATTATATATTATATATTATATACATATTATACATTATATATAT CTAAAATATATAATACACATTATATATTATATAATACACATTATATATAA TATATAATACACATTATATATTATATATAATACACATTATATATTATATA TAATACACATTATATATTATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATATAATACACATTATATATTATA TATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	82	0.0122	672	c.62 others(683): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATAATATATAATGTGTATTATATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATTATATATAAT GTGTATTATATAATATATAATGTGTATTATATATTTTAGATATATATAAT GTATAATATGTATATAATATATAATATATAATATGTATATAATATATAAT ATGTATATAATATATAATATATAATATGTATATTATATATAATATATAAT ACATATAATATGTATATTATATATATAATATATAATATATAATACATATA ATATGTATATTATATATATAATATATAATATATAATACATATAATATGCA TATTATATATAATATATTATATAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATA TATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATAT TATATATAATGTATATAATAGGTATATTATATATAATA		TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding					3381		chr20	TogoVar

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