Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(844): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAA ACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAA CAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTA ATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAAT ATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATG TTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGA TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00597.hp2 others(89): Show HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02155.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2	a0001 a0007 a0009 others(1): Show a0001 a0007 a0009 a0010	a0001c0001 a0007c0014 a0009c0008 others(1): Show a0001c0001 a0007c0014 a0009c0008 a0010c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0007c0014t0003 a0009c0008t0003 a0010c0006t0019	a0001c0001t0002g0001 a0001c0001t0003g0002 a0001c0001t0003g0008 others(51): Show a0001c0001t0002g0001 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0129 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0007g0009 a0001c0001t0007g0043 a0001c0001t0007g0126 a0001c0001t0014g0002 a0001c0001t0019g0114 a0001c0001t0020g0042 a0001c0001t0023g0002 a0001c0001t0030g0128 a0001c0001t0031g0108 a0001c0001t0032g0127 a0001c0001t0033g0016 a0001c0001t0034g0002 a0001c0001t0040g0008 a0007c0014t0003g0113 a0009c0008t0003g0008 a0010c0006t0019g0124	92	93	0.9892	851	c.-51 others(862): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAAGAAAATAATAATAATAAT AATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAA ACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCA CTACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAAT CTCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTA GTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCA CGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATT TCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACC GTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGAT CATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
F13A1_chr6_6139084_6325662	6261821	T T	TGTGCTCC others(844): Show TGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCG TGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCA GGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATG TGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTG GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTG AA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0146 a0005c0005t0002g0146	1	256	0.0039	851	c.571 others(868): Show c.571+4736_571+4737insTTCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTG GAGGGTCACCACGCTTGGAGCAC	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261821	T T	TGTGCTCC others(844): Show TGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCG TGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCA GGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATG TGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTG GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTG AA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG04228.hp1 HG02572.hp2 HG04228.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0004 a0009c0008t0003 a0001c0001t0004 a0009c0008t0003	a0001c0001t0004g0138 a0009c0008t0003g0176 a0001c0001t0004g0138 a0009c0008t0003g0176	2	257	0.0078	851	c.571 others(868): Show c.571+4736_571+4737insTTCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTG GAGGGTCACCACGCTTGGAGCAC	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261873	G G	GTGACCCT others(844): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGT GC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	277	0.0036	851	c.571 others(868): Show c.571+4684_571+4685insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6262095	G G	GTGACCCT others(844): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACTCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGAAGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGT GC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	234	0.0043	851	c.571 others(868): Show c.571+4462_571+4463insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACTTCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGAGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
GALNT9_chr12_132191372_132334589	132241441	C C	CCTTCCAG others(844): Show CCTTCCAGGGGCCCTCCCTATACCCATTACACACATGCCACACCCCCTTC CCAGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGG GCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCT CCCTATACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTA TACCCATTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCC ATTACACACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTAC ACACACGCCACACACCCTTACAGGGGCCCTCCCTATACCCATTACACACA CGCCACACCCCCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCA CACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCC CCTTCCCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTC CCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGG GCCCTCCCTATCCCCATTAAACACACAACACACACCCTTCCCGGGGCCCT CCCTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATC CCCATTAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTATACCCAT TACACACACGCCACACACCCTTCCCGGGGCCGTCCCTATACCCATTACAC ACACAACACACACCCTTCCCGGGGCCCTCCCTATCCCCATTAAACACACA ACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACACA CA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0120 a0001c0022t0001g0120	1	171	0.0058	851	c.107 others(870): Show c.1077+6468_1077+6469insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGCCC CGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGTGT GTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTT GTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGGATAGGGAGGTCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGG GAGGTCCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGG CCCCTGTAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGTGGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCCAAGGGAAG GGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGT GTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGC GTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGTTGTGTG TGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGCATGTGTGTAA TGGGTATAGGGAGGGCCCCTGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPRIN1_chr5_176590802_176615156	176591890	A A	ATGATGGT others(844): Show ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATG GTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGACGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	394	0.0025	851	c.49 others(862): Show c.4917_*4918insCCACCACCATCACCATCACAACCATCACCATCAC CTCAACACCAACACCATCATCACCACCATCGTCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCAC AACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCAT CACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAT CATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACAC CATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAA CACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACAC CAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAA CACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCT CAACACCAACACCATCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		3911		chr5	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(844): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGA GATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCC CTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTT CATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCC CACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCC CTCCATCCTGACTGTGCCCCCTGCACCACCTTCCCCACCCCGAGACTCTG GTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCT GCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGC CTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACC TTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTG CATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGA CT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	65	0.0154	851	c.134 others(868): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAG ATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCC TACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTC ATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCC ACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCC TCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGG TGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTG CCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCC CCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCCCCCTGCACCACCT TCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGC ATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGAC TCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGA CTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCT GGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACAC CACCTTCCCCACCCCGAGACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(844): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATAATATATATTTTATATATATTATATATTTTATATATAATATATATT TTATATATATTATATATTTTATATATAATATATATATATTATATATAATA TATATTATATATAATATATATATTATATAAAATATATAATATATATCTTA TATATATCATATATTTTATATATATCATATATTTTATATATATCATATAT TTTATATATAATATATATTATATATACATTATATAATATATATTATATTA TATATAATATATTATATAATATATATTATATATTATACGTAATATATAAT GTATATTATATATAATATACATTATATAATGTATATTATATATAATATAC ATTATATACAATGTATATTATATGTAATATACATTGTATATAATGTATAT TACATATAATATACATTATATAATGTATATTACATATAATATACATTGTA TATAATGTATATTACATATAATATACATTGTATATAATGTATATTACATA TAATATACATTATATAATGTGTATATTATATGTAATATATACATTATATA TAATGTATATATTATATGTAATATATACATTATATATAATGTATATATTA CATGTAATATATACATTATATATAATGTATATTATATGTAATATATACAT TATATATAATGTATATTATATGTAATATATACATTATATATAATGTATAT TATATGTAATATATACATTATATAATGTATACATTGTATATAATGTATAT TA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	132	0.0076	851	c.94- others(864): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATAATATATATTTTATATATATTATATATTT TATATATAATATATATTTTATATATATTATATATTTTATATATAATATAT ATATATTATATATAATATATATTATATATAATATATATATTATATAAAAT ATATAATATATATCTTATATATATCATATATTTTATATATATCATATATT TTATATATATCATATATTTTATATATAATATATATTATATATACATTATA TAATATATATTATATTATATATAATATATTATATAATATATATTATATAT TATACGTAATATATAATGTATATTATATATAATATACATTATATAATGTA TATTATATATAATATACATTATATACAATGTATATTATATGTAATATACA TTGTATATAATGTATATTACATATAATATACATTATATAATGTATATTAC ATATAATATACATTGTATATAATGTATATTACATATAATATACATTGTAT ATAATGTATATTACATATAATATACATTATATAATGTGTATATTATATGT AATATATACATTATATATAATGTATATATTATATGTAATATATACATTAT ATATAATGTATATATTACATGTAATATATACATTATATATAATGTATATT ATATGTAATATATACATTATATATAATGTATATTATATGTAATATATACA TTATATATAATGTATATTATATGTAATATATACATTATATAATGTATACA TTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HBQ1_chr16_175459_186179	186102	G G	GGGAACAG others(844): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCAACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	298	0.0034	851	c.49 others(862): Show c.4994_*4995insGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCAACACGGGGAGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGAC ACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGGGAACAGCGACACGGGAGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGAGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4924		chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(844): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGTAT ATATGGAACATATATACATATATGTATATATGGAACATATATACATATAT GGAACCAATACATACATGGAACATATATATGTGGAACCAATACATACATG GAACATATATATGTGGAACCAATACATACATGGAACATATATATGTGGAA CCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATCTGG AACCAATACATATACGGAACATATATATCTGGAACCAATACATATACGGA ACATATATATCTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	204	0.0049	851	c.-36 others(862): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGGAACCAATACATACATGGAACATATATATGTGGA ACCAATACATACATGGAACATATATATGTGGAACCAATACATACATGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATCTGGAACCAATACATATACGGAACATATATATCTGGAAC CAATACATATACGGAACATATATATCTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
JUND_chr19_18274694_18286622	18284529	T T	TAATAATA others(844): Show TAATAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCG ATGGCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGAT CATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGT CTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAG TCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGG CGGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAA AAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATG ATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGC TGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAG CATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGG TGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATC GCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGG TTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACA AAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGC CGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18960.hp1 NA18965.hp1 others(2): Show HG02135.hp2 NA18960.hp1 NA18965.hp1 NA18973.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0000 a0001c0001t0027g0000 a0001c0001t0003g0000 a0001c0001t0027g0000	5	400	0.0125	851	c.-30 others(862): Show c.-3046_-3045insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2908		chr19	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(844): Show TAATAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCG ATGGCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGAT CATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGT CTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAG TCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGG CGGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAA AAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATG ATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGC TGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAG CATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGG TGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATC GCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGG TTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACA AAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGC CGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02004.hp2 HG02056.hp1 others(2): Show HG01975.hp2 HG02004.hp2 HG02056.hp1 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0000 a0001c0001t0011g0000 a0001c0001t0003g0000 a0001c0001t0011g0000	5	315	0.0159	851	c.-30 others(862): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(844): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCAGCCCCCCCCACAGCCGCCCCCCCACAGCCGC CCCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCAC CTCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCCACAGCCCGCCCCCCACAGCCGCCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCAAAGCACCTCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCACAGCCACCCC CCACGAGCCCACCCCCCCCAGCCGCCCCCACAGGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCACAG CT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	5	0.2000	851	c.-41 others(866): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCCCACAGCCAGCCCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCA CCTCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCGCCCCCCCCACAGCCCGCCCCCCACAGCCGCCCCCCACAGCCGCC CCCACAGCCGCCCCCCACAGCCACCCCCAAAGCACCTCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCACAGCCACCC CCCACGAGCCCACCCCCCCCAGCCGCCCCCACAGGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCACA GCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(844): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGATGGGGGTGGGGG GGTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGT GATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGA TGATGGTGGGGGTAATGACGGTGGGGTGGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTGGGGGTGAT GACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGT GATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGG TGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATG ATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGAT GGTGGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGT GG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0081 a0002c0081	a0002c0081t0001 a0002c0081t0001	a0002c0081t0001g0086 a0002c0081t0001g0086	1	31	0.0323	851	c.956 others(868): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCGCCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTC ATCACCCCCACCGCCATCACCGTCATCACCCCCACCATCATCGTCATCAC CCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCCACC CCACCGTCATTACCCCCACCATCATCACCCTCACCATCATCACCCCCACC CCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCAT CACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATC ACCCCCCCCACCCCCATCATCACCGTCATCACCCCCACCATCATCACCCC CAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCCACCCCCA CCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(844): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATA TATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTA TAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATA TATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATT TTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATTTATATATATAGTTATATA TTTATATATATTTATATATATTTATATATATATTTATATATTTATTTATA TATATTTATATATGTATTTATATATATTTATATATATTTATATGTATTTA TATATATTTATATATATTTATATATATATATATAAATATATTTATATATA TATAAATATAAATATTTATATATATTTATATATATTTATATATATATTTA TGTATATTTATATATATTTATATATATATTTATGTATATTTATATATGTA TT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	80	0.0125	851	c.125 others(868): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATATTTTTATATATATTTATATATATT TTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGTATA GTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATA TAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATT TATATATATAGTTATATATTTATATATATTTATATATATTTATATATATA TTTATATATTTATTTATATATATTTATATATGTATTTATATATATTTATA TATATTTATATGTATTTATATATATTTATATATATTTATATATATATATA TAAATATATTTATATATATATAAATATAAATATTTATATATATTTATATA TATTTATATATATATTTATGTATATTTATATATATTTATATATATATTTA TGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(844): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CTAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCCCTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTA TATAAAATTTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTT ATCCCAAAGGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACA TTAGAAGAATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCA AATCCTACCTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAA AGTAGATCATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTG GG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp1 HG03195.hp2 others(2): Show HG02647.hp2 HG03130.hp1 HG03195.hp2 HG03579.hp2 HG06807.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0007 a0003c0005t0048 a0003c0005t0004 a0003c0005t0007 a0003c0005t0048	a0003c0005t0004g0156 a0003c0005t0004g0177 a0003c0005t0007g0015 others(2): Show a0003c0005t0004g0156 a0003c0005t0004g0177 a0003c0005t0007g0015 a0003c0005t0007g0043 a0003c0005t0048g0230	5	127	0.0394	851	c.213 others(870): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACACACACACATACATACATACATATCTGTGTGACTG TTAGCCTTCCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTT ACAAAAGGAAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCT CTGTCGCCCAGGCTGGAGGGCAGTGGCTTGATCTCGGCTCGCTGCAACTT CCACTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTC GGATTACAGGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTA GAGATGGGGTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTA GTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGC CACCACGTAGAAACATATATCTTTAGTGCCCCATCAGTCCTTTTCTGGGA GCCTCCCTGCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCT GATATCAGCAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAG TTTCTAGGACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(844): Show CCTCCCCCTCTCCCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCT CCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCC CTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCC CCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCC CTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTC ACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCT TCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGC TCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTT CCCTCTTCCCCCTCCCCTTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCAT CCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTC TCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCC TCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCC CCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCC CCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATC TCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCC CCATCTCCCCCTCCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCC CCTCTCCTCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTCCCCTTCCCC CT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	6	0.1667	851	c.100 others(870): Show c.1005+3279_1005+3280insTCCCTCTCCATCACCCCCTCTCCATC ACCCTCCCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCC TCTTCCCCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCAT CCCCCTCCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTC CCCTTCCCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCT CTCCCACTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCT TCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCC CTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCT CCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCTTCTTCCCTCTCTCTCCTT CCCCCTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCA TCCCCCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTT CTCCCCCATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTC TCCCCCTCTTCCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCC CTCTCCCCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATC TCCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTC CCCACTCTGCCTCCCCATCTCCCCCTCCTCCCCCACCCCTCCCCACTCTC CCTCCCCCTCTCCCCCTCTCCTCCCTTCTCCCCCACCCCTCCCCCTCCCC CTCTCCCCTTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(844): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATTTTATATATATAAAATA AGATTTTATATATATATATAAAATAAGATTTTATATATATATAAAATAAG ATTTTATATATATATAAAATAAGATTTTATATATATATAAAATATATATA AAATAAGATTTTATATATATATAAAATAAGATTTTATATATATAAAATAT ATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTT TATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01358.hp2 HG01106.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0190 a0001c0001t0004g0189 a0001c0001t0002g0190 a0001c0001t0004g0189	2	243	0.0082	851	c.-5+ others(866): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATATAAAATCTTATTTTATATATATAAAATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATAAGATTTTATATATATAAAATATATATAAAGT AAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATAT AAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATAAAAAATATATATCAAATATATATAAAATAAG ATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(844): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATTTTATATATATAAAATAAGATTTTATATATATA TATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATCTTATTT TATATATATTTTATATATATATAAAATCTTATTTTATACATATATAAAAT CT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	242	0.0041	851	c.-5+ others(866): Show c.-5+3009_-5+3010insAGATTTTATATATGTATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATTTT ATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATAT ATATATAAAATCTTATTTTATATATATATATAAAATCTTATTTTATATAT ATAAAATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATAAGATTTTATATATATAAAATATATATAAAGT AAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATAT AAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATAAAAAATATATATCAAATATATATAAAATAAG ATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189618	A A	ATATATAT others(844): Show ATATATATTTGATATATATTTTTTATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTT TATATATATTTTATATATATATAAAATCTTACTTTATATTTTATATATAT GAAATCTTACTTTATATATATTTTATATATATATAAAATCTTACTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATA TATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATATAT ATAAAATCTTATTTTATATATATATAAAATAAGATTTTATATATATTTTA TATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATAAAATAAGATTTTATATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTAT ATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATCTTATTTTATATATATTTTAT ATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATAT ATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTT TA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	295	0.0034	851	c.-5+ others(866): Show c.-5+2979_-5+2980insTAAAATAAGATTTTATATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTAT ATATATTTTATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCTTATTTTATATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATATATAAAAT CTTATTTTATATATATAAAATATATATAAAATCTTATTTTATATATATAT AAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATA TATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAA GATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATATAA AATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTT ATATATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAA AAAATATATATCAAATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189622	A A	ATATTTGA others(844): Show ATATTTGATATATATTTTTTATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATTTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAA TCTTACTTTATATATATTTTATATATATATAAAATCTTACTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATTTTATATATATAAAATA AGATTTTATATATATATATAAAATAAGATTTCATATATATATAAAATAAG ATTTTATATATATATAAAATAAGATTTTATATATATATAAAATATATATA AAATAAGATTTTATATATATATAAAATAAGATTTTATATATATAAAATAT ATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTT TATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0175 a0001c0001t0007g0175	1	321	0.0031	851	c.-5+ others(866): Show c.-5+2975_-5+2976insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATGAAATCTTAT TTTATATATATATATAAAATCTTATTTTATATATATAAAATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATAT ATAAAATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGA TTTTATATATATATAAAATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATAAAAAATATATATCAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTO1_chr6_73456737_73514236	73477395	A A	AAAAAAAA others(844): Show AAAAAAAAAAAAAAAAAAAGAAATTCGGAGAATTTAACACTGATACAGTG CTATTATCTAACATAAAGTCCGTAGTCACATTTTGCTAATTGGTAAATAT TGTCCAAAGCAGCTTTTTTTTTTTTTTTGAGATAGGATCTCACTGTGTTG CCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGTAACCTCCGCCT CCCAGGCTTGGATGATCCTTTTACCTCAGCCTCCCAAGTAGCTGCGACCA CAGGTGCTCACCACCATGGCTGGCTACTTTTTGTATTTTTTGTAGAGATG AGTTTTTGCAGTGTCACCCAGGCTGGTCTCAAACTCATGGACTGAAGGGA TCTGCCTGCCTTGGGCCCCAAAAGTGCTGGGATTACAAGTATGAGCCACC AAGCCTAGCCCAAAACAACCTTTTTATTCCCAATCAAGGGTCATGCATTG CGTTTAATTGTCATTTCTCTTTAAAGTCTTTTATCTGGAACAGTTTGTCA ATCTTTAATGGTGCCGACATTTTTGAAGTGTAGAGGCCACTTTTACCTAT CTCTCGAGTTTTAAAAAAATGTGGCGTGGCATGGTGGCTCACACCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGT TCAAGACCAGCTTGGCCAATATGGTGAAACCTCACCTCTACTAAAAATAC AAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGG AGGCTGAGGCATGAGAATCGCTTGAACCAGGGATGGGGAGGTTGCAGTGA GCTGAGATTGTGCCACTGCACTGCAGCCTGGGCAACAGCAAGACTATGTC TC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	394	0.0025	851	c.826 others(868): Show c.826-2319_826-2318insGAAATTCGGAGAATTTAACACTGATACA GTGCTATTATCTAACATAAAGTCCGTAGTCACATTTTGCTAATTGGTAAA TATTGTCCAAAGCAGCTTTTTTTTTTTTTTTGAGATAGGATCTCACTGTG TTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGTAACCTCCG CCTCCCAGGCTTGGATGATCCTTTTACCTCAGCCTCCCAAGTAGCTGCGA CCACAGGTGCTCACCACCATGGCTGGCTACTTTTTGTATTTTTTGTAGAG ATGAGTTTTTGCAGTGTCACCCAGGCTGGTCTCAAACTCATGGACTGAAG GGATCTGCCTGCCTTGGGCCCCAAAAGTGCTGGGATTACAAGTATGAGCC ACCAAGCCTAGCCCAAAACAACCTTTTTATTCCCAATCAAGGGTCATGCA TTGCGTTTAATTGTCATTTCTCTTTAAAGTCTTTTATCTGGAACAGTTTG TCAATCTTTAATGGTGCCGACATTTTTGAAGTGTAGAGGCCACTTTTACC TATCTCTCGAGTTTTAAAAAAATGTGGCGTGGCATGGTGGCTCACACCTG TAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGG AGTTCAAGACCAGCTTGGCCAATATGGTGAAACCTCACCTCTACTAAAAA TACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCATGAGAATCGCTTGAACCAGGGATGGGGAGGTTGCAG TGAGCTGAGATTGTGCCACTGCACTGCAGCCTGGGCAACAGCAAGACTAT GTCTCAAAAAAAAAAAAAAAAAA	MTO1	ENSG00000135297.17	transcript	ENST00000498286.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(844): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC TCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCCC CCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCC CTCTCCCTTCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCC CTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TTCCCCTCCCCTCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCC TCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCTTTTGCCTCCTCTCCCC TCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTCTCCTTCCCCTTTCCCT CCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCCTCTTCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCC TCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCT CC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	32	0.0313	851	c.289 others(868): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTTCCCCTCCCCTCTCCCCCTCCCCTCTCCCTCCCCTCCCCCT CCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTC TCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCTTCCCCTCCCCTCTCCCTC CCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCCCTCCCCTCTCCCT CCCCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTC CCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCT CCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTC CCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCC CTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCC CCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCC CTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(844): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGC CTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCC GCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTT ACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCG CCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTG GGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGT CCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCTGCCCGCCTTACCCA CT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	202	0.0050	851	c.148 others(870): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCAGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCA GTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAC others(844): Show TTCCATACATATACATACATGGTATATATTCCATACATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATACATAC ATGGTATATATTCCTATATATACATACATGGTATATATTCCATATATATA CATACATGGTATATATTCCATATATATACATACATGGTATATATTCCATA TATATATACATACATGGTATATATTCCATATATATATACACATACATGGT ATATATTCCATATATATATACACATACATGGTATATATTCCATATATATA TACACATACATGGTATATATTCCATATATATATACACATACATGGTATAT ATTCCATATATACATACATGGTATATATTCCATATATACATACATGGTAT ATATTCCTATATATACATACATGGTATATATTCCAATATATACATACATG GTATATATTCCATATATATACATACATGGTATATATTCCATATATATATA CATACATGGTATATATTCCATATATATACATACATGGAATATATATATTC CATACATGGAATATATATATTCCATACATGGAATATATATATTCCATATA TACATATATATATTCCATATATACACATATATATATTCCATATATACACA TATACATGGAATATATATCTGTATATATATGGAATATATATGTATATATA TGAAATATATATGTATATGTATTTATATTATGTATTTATATTATAAATAT ATATTATGTATATATATTTATATTATAAATATATATTATGTATATATTTA TAATATAAATATATATTATGTATATATATTTATATTATAAATATATATTA TG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	36	0.0278	851	c.474 others(870): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATACATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATACATACATGGTATATATTCCTATATATACATAC ATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATAT ACATACATGGTATATATTCCATATATATATACATACATGGTATATATTCC ATATATATATACACATACATGGTATATATTCCATATATATATACACATAC ATGGTATATATTCCATATATATATACACATACATGGTATATATTCCATAT ATATATACACATACATGGTATATATTCCATATATACATACATGGTATATA TTCCATATATACATACATGGTATATATTCCTATATATACATACATGGTAT ATATTCCAATATATACATACATGGTATATATTCCATATATATACATACAT GGTATATATTCCATATATATATACATACATGGTATATATTCCATATATAT ACATACATGGAATATATATATTCCATACATGGAATATATATATTCCATAC ATGGAATATATATATTCCATATATACATATATATATTCCATATATACACA TATATATATTCCATATATACACATATACATGGAATATATATCTGTATATA TATGGAATATATATGTATATATATGAAATATATATGTATATGTATTTATA TTATGTATTTATATTATAAATATATATTATGTATATATATTTATATTATA AATATATATTATGTATATATTTATAATATAAATATATATTATGTATATAT ATTTATATTATAAATATATATTATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NXN_chr17_794310_984776	841445	C C	CCCCCGAC others(844): Show CCCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCAC GGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCA GGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGA CCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCG AGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGG AGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAG GTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CACACGGGCGAGCAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGA GCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGC GCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACC CACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTC CA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	160	0.0063	851	c.361 others(870): Show c.361-15368_361-15367insTGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGG GGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTC GCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAG ATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGAC CTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGT GTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCG CCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCC GGCGTGAGATGCTCCATGGTCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(844): Show AAGAGGGGGAAGATGGAAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAA GAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGAAGGAGAGGAAAGAGGGG GAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGA GGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGA GGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGG GGAAGATGGGAGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAG GAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAGACG GGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGAGGAAAGAGGG GGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAG AGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGG AGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGGGG GAAGATGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGAAGGAGGAGA AGAGGAAAGAGGGGGAAGATGGGAGGAGGAGGAGAGGAAAGAAGGGGAAG ATGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGGAGAAGAGGAA AG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0279 a0001c0001t0026g0279	1	2	0.5000	851	c.162 others(870): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCATCTTCCCCTTCTTTCCTCTCCTCCT CCTCCCATCTTCCCCCTCTTTCCTCTTCTCCTCCTTCCATCTTCCCCCTC TTTCCTCTCCTCCTCCTCCCATCTTCCCCCTTTCCTCTCCTCTTCCCGTC TTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTC CTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCT TTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCGT CTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTC CTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCT TTCCTCTCCTTCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCTTCCCGT CTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCT CCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTC TTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCTC CCATCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCCTC TCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCATCTTCCC CCTCTTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCA TCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCCCTCCTTCCTCT CCTCCCCTTTCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PHRF1_chr11_571470_617222	585405	T T	TTGAGGTA others(844): Show TTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG00099.hp2 HG01255.hp1	a0001 a0002 a0001 a0002	a0001c0027 a0002c0002 a0001c0027 a0002c0002	a0001c0027t0001 a0002c0002t0001 a0001c0027t0001 a0002c0002t0001	a0001c0027t0001g0253 a0002c0002t0001g0184 a0001c0027t0001g0253 a0002c0002t0001g0184	2	245	0.0082	851	c.215 others(868): Show c.215-1842_215-1841insTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGC ATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC TCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585405	T T	TTGAGGTA others(844): Show TTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19010.hp2 NA19063.hp1 HG00544.hp2 NA19010.hp2 NA19063.hp1	a0002 a0014 a0002 a0014	a0002c0002 a0014c0030 a0002c0002 a0014c0030	a0002c0002t0001 a0014c0030t0001 a0002c0002t0001 a0014c0030t0001	a0002c0002t0001g0185 a0002c0002t0001g0186 a0014c0030t0001g0181 a0002c0002t0001g0185 a0002c0002t0001g0186 a0014c0030t0001g0181	3	246	0.0122	851	c.215 others(868): Show c.215-1842_215-1841insTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC TCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585405	T T	TTGAGGTA others(844): Show TTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01256.hp1 HG01952.hp1 others(11): Show HG01123.hp1 HG01256.hp1 HG01952.hp1 HG02071.hp2 HG02293.hp2 NA18747.hp1 NA18948.hp1 NA18952.hp2 NA18974.hp1 NA18982.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19087.hp1	a0002 a0022 a0002 a0022	a0002c0002 a0022c0026 a0002c0002 a0022c0026	a0002c0002t0001 a0022c0026t0001 a0002c0002t0001 a0022c0026t0001	a0002c0002t0001g0001 a0002c0002t0001g0099 a0002c0002t0001g0100 others(9): Show a0002c0002t0001g0001 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0223 a0002c0002t0001g0266 a0022c0026t0001g0097	14	257	0.0545	851	c.215 others(868): Show c.215-1842_215-1841insTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC TCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(844): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCAT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCT CTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGCCCTTTCCAG CA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG01243.hp1 HG02258.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0089 a0002c0002t0001g0134 a0001c0001t0001g0089 a0002c0002t0001g0134	2	14	0.1429	851	c.215 others(868): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGC CCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(844): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCAT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGCCCTTTCCAG CA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	13	0.0769	851	c.215 others(868): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCT TTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGC CCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(844): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCAT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCT CTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGCCCTTTCCAG CA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19079.hp2 HG00280.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0001g0214 a0002c0002t0001g0217	2	14	0.1429	851	c.215 others(868): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCT TTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGC CCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(844): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCAT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCT CTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGCCCTTTCCAG CA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02717.hp1 others(1): Show HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02897.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0059 a0002c0011t0001g0066 a0002c0011t0001g0166 others(1): Show a0002c0011t0001g0059 a0002c0011t0001g0066 a0002c0011t0001g0166 a0002c0011t0001g0167	4	16	0.2500	851	c.215 others(868): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCTCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCT TTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGC CCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(844): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAG TCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGG GTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTG AGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCAC TGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG CGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGC ACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGATG GGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGAT GCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGG GAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGA TGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGG GGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGCGTGG GGATGCACTGAGTCTGGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGG GG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0006 a0003c0017t0006	a0003c0017t0006g0016 a0003c0017t0006g0016	1	34	0.0294	851	c.299 others(866): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCCCCCAGACTCAGTGCATCCCCACGCCCCCCCCTCCCCCAGACTCAGT GCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCC CCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCAGACTCA GTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACGCCC CCCCTCCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACT CAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACAC CCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCA GACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCC ACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCC CAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCC CCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCC CCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCA TCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCC ATCCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTCAGT GCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(844): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATAAT GATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGATGG TGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTG ATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGATGGTGGT GATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGA TGGTGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATG GTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGT GATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCA AG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp1 others(11): Show HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01496.hp1 HG02004.hp1 HG02735.hp2 HG03654.hp2 NA18522.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0029 a0001c0031 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021 a0001c0002t0002 a0001c0004t0081 a0001c0029t0065 a0001c0031t0037 a0002c0003t0006 a0003c0005t0009	a0001c0001t0001g0161 a0001c0001t0002g0011 a0001c0001t0008g0097 others(11): Show a0001c0001t0001g0161 a0001c0001t0002g0011 a0001c0001t0008g0097 a0001c0001t0014g0132 a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0002t0002g0135 a0001c0002t0002g0146 a0001c0004t0081g0031 a0001c0029t0065g0131 a0001c0031t0037g0156 a0002c0003t0006g0050 a0002c0003t0006g0065 a0003c0005t0009g0136	14	83	0.1687	851	c.438 others(870): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGA TGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGGT GGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGGTGA TGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATG GTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGT GGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGA TGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATG ATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGAT GATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGG CATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(844): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGGTGATGATGGTGATGGTGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGT GATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGGTGGTGA TGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATAATGATAGTG GTGATGATGGTGATGGTGGTGATGATGGTGATAATGATAGTGGTGATGGT GGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGGTGATGGTGGTGA TGATGGTGATGGTGATGATGATGGTGATGGTGGTGATGATGGTGATGGTG ATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATAATGATAGTGGT GATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGTTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGTGATGGTGAAGGTGTTGATGGTGATGGTGGTGGTGATGATGATGGT GGTGATGATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGATGA TGGTGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATG GTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGT GATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCA AG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0054 a0001c0001t0007g0054	1	70	0.0143	851	c.438 others(870): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGGT GGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGGTGGTGG TGATGATGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTG ATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGAT AATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGG TGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTG GTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGT GATGATAATGATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGTTGGTGATGGTGATGGTGGTGGTG GTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGGTGATGGT GGTGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGGTGA TGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATG ATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGAT GATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGG CATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(844): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGTGATACG GACATATTCACGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATA CGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGT AGGACATATTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGAT ACAGACATTCACGCGTTTGTACAGACATATTCACGCGTTTGTGTGATACA GATATATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATACG GACATATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATA CGGACATATTCACACGTTTGTGTGATGCGGACATATTCACGTGTTTGTGT GA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0299 a0004c0007t0012g0299	1	220	0.0045	851	c.367 others(868): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGTGATACGGACATA TTCACGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACGGCCA TATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAGGACA TATTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGATACAGAC ATTCACGCGTTTGTACAGACATATTCACGCGTTTGTGTGATACAGATATA TTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCACGTGTTTGTGTGATACG GACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RBFOX3_chr17_79084345_79616051	79554390	C C	CACCTGGC others(844): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACC TGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTC ACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACC CCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCC TCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCAC TCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCC CG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0102 a0001c0002t0006g0102	1	149	0.0067	851	c.-32 others(872): Show c.-320+56435_-320+56436insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGG TGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA AGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGAC TGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(844): Show GTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAG GCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCA CCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCT TCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGAC CGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACCACA CTTACTAACAGTCGTCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGTCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCTTGCACCACACTAACAGTCGCCTTCACAAGCGACCGTGCACCA CACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACACTTACTAACAGT CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00280.hp2 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0065 a0001c0001t0009g0066 a0001c0001t0001g0065 a0001c0001t0009g0066	2	72	0.0278	851	c.-39 others(862): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCTGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCTTGTGAAGGCGACTGTTA GTGTGGTGCAAGGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCAC GGTCGCCCGTGAAGACGACTGTTAGTATGTGTGGTGCACGGTCGCCCGTG AAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCCTGTGAAGACGACTGT TAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTG GTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCG CCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGAC GACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTA TGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCG CGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGT GAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGT GGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTC GCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGA CGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGT AAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGC GCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
SBNO2_chr19_1102638_1179268	1148485	C C	CCACCCCA others(844): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTC CCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCA CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCT CCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGA AAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCC CTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCC TT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	121	0.0083	851	c.167 others(866): Show c.167+883_167+884insAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGG TGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGG GAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGG GTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTG GGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGA GGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGT GAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGG AAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGG TTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGA AGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAA GGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTT TTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAG GAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGG GGCGGGAGGTTTTCTGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43339864	A A	ACTCTATG others(844): Show ACTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATT CTATCCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCACTCTA TGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCC CCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCC CACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCAC AAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAA GCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCA TAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCACT GCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCT CCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCGCTCCA ACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAGCC CTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCAACCCTCCC CTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAA CTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACCCTCCCCCCAC TCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCTACTCTCC TCACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCA CT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0014 a0005c0030t0014	a0005c0030t0014g0238 a0005c0030t0014g0238	1	120	0.0083	851	c.89- others(864): Show c.89-630_89-629insAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATG CTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCAATGCTT GTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTG GGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGG GGGGGGTAGAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGG GGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGA TAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAG TGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGA GAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGATAGAATGAGGAGAG TGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTG GGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG GGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGA GGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGG GTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTG GAGCAATGCTTGTGGGGGCATAGAGTGAGGAGAGTGGGGGAGGGCTGGAG TGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAA TGCTTGTGGGGGCATAGAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(844): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGG AAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0148 a0001c0001t0057g0148	1	3	0.3333	851	c.597 others(868): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCT CCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THAP8_chr19_36029984_36059285	36055621	A A	ACCAAGGT others(844): Show ACCAAGGTGGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTT TTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGT CATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGG TCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTG TCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGC TGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCC ATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGG GGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGT GCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAG GGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTAT TCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGG CACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	437	0.0023	851	c.-14 others(862): Show c.-1405_-1404insGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCTCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCA CCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGA CAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGACTG AGAAATCGGATGGTTGCCCTGTCTGTGTAGAAAGAAGTAGACATGGGAGA CTTTTCATTTTGTTCTGCACTAAGAAAAATTTCTCTGCCTTGGGATCCTG TTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTGAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAA AAAGAATCCCACCTTGG	THAP8	ENSG00000161277.11	transcript	ENST00000292894.2	protein_coding		1337		chr19	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(844): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCAG GAGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTTTGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01516.hp1 HG01517.hp2 others(1): Show HG01192.hp2 HG01516.hp1 HG01517.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0002t0002g0004 a0001c0001t0001g0003 a0001c0002t0002g0004	4	181	0.0221	851	c.-27 others(862): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACG GGGCGGCTGGTCGGGCGGGGGGCTGACCCCCAAACCTCCCTCCCAGACGG GGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGG CTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCTGGGC AGAGGCGCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGGTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTGCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGGA CGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(844): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCAG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTTTGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01257.hp1 HG02080.hp1 others(7): Show HG00280.hp1 HG01257.hp1 HG02080.hp1 HG02129.hp1 NA18977.hp2 NA18980.hp2 NA18984.hp2 NA19055.hp1 NA19060.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0025 a0001c0002t0002g0004 a0001c0002t0002g0029 a0001c0001t0001g0025 a0001c0002t0002g0004 a0001c0002t0002g0029	10	187	0.0535	851	c.-27 others(862): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACG GGGCGGCTGGTCGGGCGGGGGGCTGACCCCCAAACCTCCCTCCCAGACGG GGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGG CTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGGTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTGCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGGA CGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMC6_chr17_78102397_78133755	78111931	A A	ATGACGGG others(844): Show ATGACGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCC CCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTG GAGCACAGGCTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCAT GACGGGCTGGTCCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCC GCAGGCCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCACAGGCCTGGA GCACAGGCTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGA CGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCAC AGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGC ACAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCACTGGGGTCATGACG GGCTGGTTCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAG ACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGCAC AGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCACTGAGGCTGACGGGCT GGTTCCTGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAGACCT GGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGAACTGAG GCTGACGGGCTGGTCCCCGCAGGCCTGGAGCCCTGGGCTGTGATGGGCTG GTCCCCGCAGACCTGGAGCCCTGGGCTGTCATGGGCTGGTCCCTGCAGAC CTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGCACAG GC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0084 a0021c0030t0084	a0021c0030t0084g0284 a0021c0030t0084g0284	1	368	0.0027	851	c.12 others(862): Show c.1216_*1217insGCCTGTGCTCCAGGCCTGCGGGGACCAGCCCGTC ATGACCCCAGTGCTCCAGGTCTGCAGGGACCAGCCCATGACAGCCCAGGG CTCCAGGTCTGCGGGGACCAGCCCATCACAGCCCAGGGCTCCAGGCCTGC GGGGACCAGCCCGTCAGCCTCAGTTCTCCAGGCCTGCGGGGACCAGCCCG TCATGACCCCAGTGCTCCAGGTCTGTGGGGACCAGCCCGTCAGCCTGTGC TCCAGGCCTGCAGGAACCAGCCCGTCAGCCTCAGTGCTCCAGGCCTGCGG GGACCAGCCCGTCAGCCTGTGCTCCAGGCCTGCGGGGACCAGCCCGTCAT GACCCCAGTGCTCCAGGTCTGTGGGGACCAGCCCGTCAGCCTGTGCTCCA GGCCTGCGGGAACCAGCCCGTCATGACCCCAGTGCTCCAGGCCTGCGGGG ACCAGCCCGTCAGCCTGTGCTCCAGGCCTGCGGGGACCAGCCCGTCATGA CCCCAGTGCTCCAGGTCTGTGGGGACCAGCCCGTCAGCCTGTGCTCCAGG CCTGTGGGGACCAGCCCGTCATGACCCCAGTGCTCCAGGTCTGTGGGGAC CAGCCCGTCAGCCTGTGCTCCAGGCCTGTGGGGACCAGCCCGTCATGACC CCAGTGCTCCAGGCCTGCGGGGACCAGCCCGTCAGCCTGTGCTCCAGGCC TGCGGGGACCAGCCCGTCATGACCCCAGTGCTCCAGGTCTGTGGGGACCA GCCCGTCAGCCTGTGCTCCAGGCCTGCGGGGACCAGCCCGTCATGACCCC AGTGCTCCAGGTCTGTGGGGACCAGCCCGTCAGCCTGTGCTCCAGGCCTG TGGGGACCAGCCCGTCA	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	20/20	1216		chr17	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(844): Show TCTCCCCTCCCCTCTCCCCCCCTCCCTTCTCCCCTCCCCTCTCCCCCCCT CCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCT CTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCC TCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTC CCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCC CCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCC CTCCCCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCC TCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCC TATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCA CC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	82	0.0122	851	c.-25 others(870): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCCT TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTA CCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTC CCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCC CCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCC CCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TNRC6C_chr17_77953703_78113822	78111931	A A	ATGACGGG others(844): Show ATGACGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCC CCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTG GAGCACAGGCTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCAT GACGGGCTGGTCCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCC GCAGGCCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCACAGGCCTGGA GCACAGGCTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGA CGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCAC AGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGC ACAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCACTGGGGTCATGACG GGCTGGTTCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAG ACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGCAC AGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCACTGAGGCTGACGGGCT GGTTCCTGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAGACCT GGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGAACTGAG GCTGACGGGCTGGTCCCCGCAGGCCTGGAGCCCTGGGCTGTGATGGGCTG GTCCCCGCAGACCTGGAGCCCTGGGCTGTCATGGGCTGGTCCCTGCAGAC CTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGCACAG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0262 a0001c0002t0030g0262	1	211	0.0047	851	c.70 others(862): Show c.7086_*7087insTGACGGGCTGGTCCCCACAGGCCTGGAGCACAGG CTGACGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGACGGGCTG GTCCCCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAGACCTG GAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTGGAGCACAGGCT GACGGGCTGGTCCCCGCAGGCCTGGAGCACTGGGGTCATGACGGGCTGGT CCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCACAGACCTGGA GCACTGGGGTCATGACGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGA CGGGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCC CCGCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGC ACTGGGGTCATGACGGGCTGGTTCCCGCAGGCCTGGAGCACAGGCTGACG GGCTGGTCCCCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCC GCAGGCCTGGAGCACAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCAC TGAGGCTGACGGGCTGGTTCCTGCAGGCCTGGAGCACAGGCTGACGGGCT GGTCCCCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAG GCCTGGAGAACTGAGGCTGACGGGCTGGTCCCCGCAGGCCTGGAGCCCTG GGCTGTGATGGGCTGGTCCCCGCAGACCTGGAGCCCTGGGCTGTCATGGG CTGGTCCCTGCAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGC AGGCCTGGAGCACAGGC	TNRC6C	ENSG00000078687.18	transcript	ENST00000696270.1	protein_coding		3110		chr17	TogoVar

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