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
GPIHBP1_chr8_143208218_143222170	143211626	G G	GGCGGGGC others(286): Show GGCGGGGCGTGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGC GGGGCATGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGAG GGGTGAAGATGACGGGAGGCGGTGCACGGGGGAGGCGGGGCACAGGAGAG GCGGGTCGACAGGGAGGTGGGACGCTGGGGAGAAGGGGCGAATGGGGGGC GGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGGGCAGTGGGGGAGGCG GGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	57	0.0175	293	c.-16 others(304): Show c.-1642_-1641insGCGGGGCGTGAGAGGCGGGGCAGTGGGGGAGGCG GGGCGTGGGGGAGGCGGGGCATGAGAGAGGCGGGGCAGTGGGGGAGGCGG GGCGTGGGGGAGGAGGGGTGAAGATGACGGGAGGCGGTGCACGGGGGAGG CGGGGCACAGGAGAGGCGGGTCGACAGGGAGGTGGGACGCTGGGGAGAAG GGGCGAATGGGGGGCGGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGG GCAGTGGGGGAGGCGGGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGC ACCAGGGAA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1591		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143211626	G G	GGCGGGGC others(286): Show GGCGGGGCGTGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGC GGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGAG GGGTGAAGATGACGGGAGGCGGTGCACGGGGGAGGCGGGGCACAGGAGAG GCGGGTCGACAGGGAGGTGGGACGCTGGGGAGAAGGGGCGAATGGGGGGC GGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGGGCAGTGGGGGAGGCG GGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01175.hp2 HG01934.hp1 others(28): Show HG00544.hp2 HG01175.hp2 HG01934.hp1 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18982.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0003c0005t0002	a0001c0001t0001g0010 a0001c0001t0005g0006 a0001c0001t0005g0008 others(3): Show a0001c0001t0001g0010 a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0007g0007 a0001c0001t0017g0006 a0003c0005t0002g0003	31	87	0.3563	293	c.-16 others(304): Show c.-1642_-1641insGCGGGGCGTGAGAGGCGGGGCAGTGGGGGAGGCG GGGCGTGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCGG GGCGTGGGGGAGGAGGGGTGAAGATGACGGGAGGCGGTGCACGGGGGAGG CGGGGCACAGGAGAGGCGGGTCGACAGGGAGGTGGGACGCTGGGGAGAAG GGGCGAATGGGGGGCGGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGG GCAGTGGGGGAGGCGGGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGC ACCAGGGAA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1591		chr8	TogoVar
GUCY1A2_chr11_106669019_107023476	107022930	T T	TAAAATCA others(286): Show TAAAATCACAATGTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAACAGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0246 a0001c0003t0016g0246	1	225	0.0044	293	c.-48 others(304): Show c.-4876_-4875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTCACAT TGTGATTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding		4455		chr11	TogoVar
GULP1_chr2_188286874_188600926	188298290	T T	TCTCACGC others(286): Show TCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	145	0.0069	293	c.-17 others(312): Show c.-172+6124_-172+6125insCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
HCN1_chr5_45249948_45701380	45257948	C C	CAGTATGA others(286): Show CAGTATGAGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0217 a0001c0001t0025g0217	1	216	0.0046	293	c.39 others(304): Show c.3972_*3973insAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGT ACTCATACT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	8/8	3972		chr5	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(286): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18998.hp2 NA19074.hp1 NA18992.hp2 NA18998.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053	3	333	0.0090	293	c.234 others(308): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC GCTGTTCTTTCTT	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834468	G G	GGGTCTGA others(286): Show GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGAAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCCAGAGCC TGGACTCCTGGGTCTGAGGGAAGAGGGGCTGGGAGCCTGGACCCCTGGGT CTGAAGGAGGAGGGGTTGGGGACTTGGATTCCTGGGTCTGAGGGAGGAGG TGCCGGAGCCTGGACTTCTGGGTCTGAGGGAGGAGGGGCTGGGGACCTGG ACTCCTGGGTCTGAGGGCAGAGGGGCTGGGGGCCTGGACTCCTA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0158 a0001c0001t0001g0159	2	388	0.0052	293	c.128 others(308): Show c.128-111_128-110insTAGGAGTCCAGGCCCCCAGCCCCTCTGCCC TCAGACCCAGGAGTCCAGGTCCCCAGCCCCTCCTCCCTCAGACCCAGAAG TCCAGGCTCCGGCACCTCCTCCCTCAGACCCAGGAATCCAAGTCCCCAAC CCCTCCTCCTTCAGACCCAGGGGTCCAGGCTCCCAGCCCCTCTTCCCTCA GACCCAGGAGTCCAGGCTCTGGCACCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGGCCCTACTTTCTCAGACCCAGGAGTCCAGACCTCAGCCCCT CCTCCCTCAGACC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33322940	T T	TATATACG others(286): Show TATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTA TGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATATA TACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGG AATATATACGTATGGAATATATATATGGAATATATACGTATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	315	0.0032	293	c.-21 others(304): Show c.-2116_-2115insATATACGTATGGAATATATATATGGAATATATAC GTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATA TGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATA TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGGAATATATATATGGAATATAT ACGTATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2029		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323498	A A	AATATATA others(286): Show AATATATATGTGGAATATATATATGTGGAATATATATGTGGAATATATAT ATGTGGAATATATATGTGGAATATATATATGTGGAATATATATGTGGAAT ATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATATATG GAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATA TATATGGAATATATATGTGGAATATATATATATGGAATATATATATATGG AATATATATGTGGAATATATATATATGGAATATATATGTGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	192	0.0052	293	c.-15 others(304): Show c.-1558_-1557insATATATATGTGGAATATATATATGTGGAATATAT ATGTGGAATATATATATGTGGAATATATATGTGGAATATATATATGTGGA ATATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATGTG GAATATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGG AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1471		chr21	TogoVar
INPP5D_chr2_233055342_233212903	233144537	A A	AGATGGTG others(286): Show AGATGGTGGTAGTGATGGTGATGGTGAGGGTGAAGGTGGTAGTGGTGATG GTGATGGTGGAGGTGGTTATGATCATGGTGGGAGTGATGGGGTAGAGATG GTGGTGGTGATGGTGATGGTGAGGGTGGAGGTGGTAGTAGTGATGGTGAT GGTGGAGGTGGGCATGATCATGGTGGGAGTGATAGGGGTGGAGATGGTGG TAGTGATGGTGATGGTGAGGGTGAAGGTGGTGGTAGTGATGGTGATGGTG GAGGTGGTCATGATCATGATAGGACTGGTAGGGGTGGAGATGGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0092 a0001c0003t0001g0092	1	307	0.0033	293	c.754 others(310): Show c.754-1624_754-1623insATGGTGGTAGTGATGGTGATGGTGAGGG TGAAGGTGGTAGTGGTGATGGTGATGGTGGAGGTGGTTATGATCATGGTG GGAGTGATGGGGTAGAGATGGTGGTGGTGATGGTGATGGTGAGGGTGGAG GTGGTAGTAGTGATGGTGATGGTGGAGGTGGGCATGATCATGGTGGGAGT GATAGGGGTGGAGATGGTGGTAGTGATGGTGATGGTGAGGGTGAAGGTGG TGGTAGTGATGGTGATGGTGGAGGTGGTCATGATCATGATAGGACTGGTA GGGGTGGAGATGGTG	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(286): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATATATGAAATATATATATGAT ATATATATGAAATATATATATGATATATATATGAAATATATATATGATAT ATATATGAAATATATATATGATATATATATGAAATATATATATGATATAT ATATGAAATATATATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0243 a0003c0003t0001g0243	1	54	0.0185	293	c.25- others(308): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATATATGAAAT ATATATATGATATATATATGAAATATATATATGATATATATATGAAATAT ATATATGATATATATATGAAATATATATATGATATATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IZUMO3_chr9_24537952_24550897	24546446	C C	CCTTTTCT others(286): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT CTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	158	0.0063	293	c.-79 others(302): Show c.-798_-797insAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAA AAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		550		chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6067601	A A	ACAGGTCA others(286): Show ACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACAC AGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAG GTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAGGT CACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACACACAC AGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAGG TCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	231	0.0043	293	c.130 others(312): Show c.1303-2594_1303-2593insCGTGTGCAGAAGAGCTTGAGTGAACG TGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTG GAGCTCAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAAC CTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCT GGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGG AGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAG CTCAGGGGGGTGACCTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067677	G G	GGTTCACT others(286): Show GGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCC AGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAC GTTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGT TCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCACGTTC ACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	158	0.0063	293	c.130 others(312): Show c.1303-2670_1303-2669insGTGGAGCTCAGGGGGGTGACCTGCGT GTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGT GCGGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTGC AGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAG AAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTGTG CAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGTGCA GAAGAGCTTGAGTGAAC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132173016	C C	CTCTCCCT others(286): Show CTCTCCCTCTCCTCCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCC CCTCTCCTTCCCTCTCTCTCTCCCTCACTCCCCTCTCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTCCTCCTCCCCCTCTCCTTCCCTCT CTCCCTCCCCCTCATCCTTCCCTCTCTCCTTCCCCTCTCCTTCCCCCTCT CCTTCCCCCTCTCTCCCTCCCCCTCTCCTTCCTCCCTCTCCTTCCCTCTC TCCCCTCCCCCTCCCTTCCCTCTCTCTCCCCTCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0016 a0002c0005t0001g0016	1	72	0.0139	293	c.11 others(314): Show c.1103+3983_*1103+3984insTCTCCCTCTCCTCCTCTCTCCCCC TCTCCTTCCCTCTCTCTCTCTCCCCCCTCTCCTTCCCTCTCTCTCTCCCT CACTCCCCTCTCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTC TCCTCCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCATCCTTCCCTCT CTCCTTCCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCTCCCTCCCCCTC TCCTTCCTCCCTCTCCTTCCCTCTCTCCCCTCCCCCTCCCTTCCCTCTCT CTCCCCTCTCCCTCCCTCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23			chr10	TogoVar
KCTD5_chr16_2677523_2714030	2688502	T T	TGGCCTCC others(286): Show TGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCT GTACTTGGTTTTTGTTTTTAAATATTTGAGACAGAGTCTCACTCTATCCC GCCTCTATCTGGGCTCACTGCAACCTCTGCCACCTGGGTTCAAGAGATTC TCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACAAGCCATCATG TCTGGCTGATTTTTATATATTCTGTAGAGATGGGGTTTCTCCATGTTGGC CAGGCTGGTCTCGAACTCCTGACCTCCGGTGATCTGCCCACCTC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	410	0.0024	293	c.252 others(310): Show c.252+5729_252+5730insCATGAGCCACTGCACCCGGCCTGTACTT GGTTTTTGTTTTTAAATATTTGAGACAGAGTCTCACTCTATCCCGCCTCT ATCTGGGCTCACTGCAACCTCTGCCACCTGGGTTCAAGAGATTCTCTTGC CTCAGCCTCCCAAGTAACTGGGATTACAGGCACAAGCCATCATGTCTGGC TGATTTTTATATATTCTGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCT GGTCTCGAACTCCTGACCTCCGGTGATCTGCCCACCTCGGCCTCCCAAAG TGCTGGGATTACAGG	KCTD5	ENSG00000167977.9	transcript	ENST00000301738.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
KRTAP5-10_chr11_71560563_71571735	71563061	T T	TATTTTGA others(286): Show TATTTTGATACGTGTATACAATGTGTAGAGATCATTCAGGGTGAATAGTA TATCATCTCCTCAAACATTTATCATGTCTTTGTTTTGGGAACACTCAATA TCTTCTCCTCTAGCTATCCGCAAATGTGCAATAAATTATGGTTAACCCCA GTTATCATGCAGTGCTACAGAACACTAGGGCTTATTCCTGCTGTGTGGCT ATAGTTTTGTATCTGTGAACCAGCCTCTCCCCTTTCCCTCGTCCTCACCC CTTCCCAGCTCCTGGTAACCACCATTCTATCTTCTACTCCTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02109.hp1 HG02559.hp2 others(4): Show HG00597.hp1 HG02109.hp1 HG02559.hp2 HG02698.hp2 NA18747.hp1 NA18948.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0000 a0002c0002t0007g0000	7	453	0.0155	293	c.-25 others(304): Show c.-2527_-2526insATTTTGATACGTGTATACAATGTGTAGAGATCAT TCAGGGTGAATAGTATATCATCTCCTCAAACATTTATCATGTCTTTGTTT TGGGAACACTCAATATCTTCTCCTCTAGCTATCCGCAAATGTGCAATAAA TTATGGTTAACCCCAGTTATCATGCAGTGCTACAGAACACTAGGGCTTAT TCCTGCTGTGTGGCTATAGTTTTGTATCTGTGAACCAGCCTCTCCCCTTT CCCTCGTCCTCACCCCTTCCCAGCTCCTGGTAACCACCATTCTATCTTCT ACTCCTGAG	KRTAP5-10	ENSG00000204572.10	transcript	ENST00000398531.3	protein_coding		2501		chr11	TogoVar
KRTAP5-10_chr11_71560563_71571735	71563061	T T	TATTTTGA others(286): Show TATTTTGATACGTGTATACAATGTGTAGAGATCATTCATGGTGAATAGTA TATCATCTCCTCAAACATTTATCATGTCTTTGTTTTGGGAACACTCAATA TCTTCTCCTCTAGCTATCCGCAAATGTGCAATAAATTATGGTTAACCCCA GTTATCATGCAGTGCTACAGAACACTAGGGCTTATTCCTGCTGTGTGGCT ATAGTTTTGTATCTGTGAACCAGCCTCTCCCCTTTCCCTCGTCCTCACCC CTTCCCAGCCCCTGGTACCCACCATTCTATCTTCTACTCCTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02055.hp2 HG02615.hp1 others(10): Show HG01074.hp1 HG02055.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp1 NA18522.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0000 a0002c0002t0004g0000	13	459	0.0283	293	c.-25 others(304): Show c.-2527_-2526insATTTTGATACGTGTATACAATGTGTAGAGATCAT TCATGGTGAATAGTATATCATCTCCTCAAACATTTATCATGTCTTTGTTT TGGGAACACTCAATATCTTCTCCTCTAGCTATCCGCAAATGTGCAATAAA TTATGGTTAACCCCAGTTATCATGCAGTGCTACAGAACACTAGGGCTTAT TCCTGCTGTGTGGCTATAGTTTTGTATCTGTGAACCAGCCTCTCCCCTTT CCCTCGTCCTCACCCCTTCCCAGCCCCTGGTACCCACCATTCTATCTTCT ACTCCTGAG	KRTAP5-10	ENSG00000204572.10	transcript	ENST00000398531.3	protein_coding		2501		chr11	TogoVar
LHPP_chr10_124456823_124619141	124507236	G G	GGTAGGGA others(286): Show GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGGGGA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	207	0.0048	293	c.624 others(310): Show c.624+9113_624+9114insGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGA TTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTT CAGGTGGGGAGTAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507685	C C	CAGGATTT others(286): Show CAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG GATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	160	0.0063	293	c.625 others(310): Show c.625-9482_625-9481insGGGGGATAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGG GGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC128125818_chr4_6059977_6075162	6067601	A A	ACAGGTCA others(286): Show ACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACAC AGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAG GTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAGGT CACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACACACAC AGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAGG TCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	456	0.0022	293	c.106 others(310): Show c.106+2455_106+2456insCGTGTGCAGAAGAGCTTGAGTGAACGTG GAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGA GCTCAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCT GGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGG AGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAG CTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGGTGACCTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067677	G G	GGTTCACT others(286): Show GGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCC AGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAC GTTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGT TCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCACGTTC ACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	271	0.0037	293	c.106 others(310): Show c.106+2379_106+2380insGTGGAGCTCAGGGGGGTGACCTGCGTGT GCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGC GGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTGCAG AAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAA GAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTGTGCA GAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGA AGAGCTTGAGTGAAC	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LUC7L_chr16_183990_234449	187190	G G	GGAGGAAC others(286): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	249	0.0040	293	c.20 others(304): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar
MAP3K15_chrX_19355059_19520508	19478051	A A	AGGGGGGA others(286): Show AGGGGGGAGCGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGG AGAGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGAGAG GGGGGAGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGA GAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	114	0.0088	293	c.525 others(310): Show c.525+8430_525+8431insCTCTCCCCCCTCCCCCCTCCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCT CTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCC CCCCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCT CCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCT CTCCCCGCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(286): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	190	0.0053	293	c.-15 others(310): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432419	G G	GGAGGAGA others(286): Show GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGGAAAGGAGGAGAGAGA GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGG GGAGGAGAGAGAGAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAG AAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0204 a0001c0007t0002g0204	1	239	0.0042	293	c.225 others(310): Show c.225-2612_225-2611insGAGAGAGAGAGAAAGGGAGGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGGAAAGGAGGAGAGAGAGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG GGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAGGGAGGAGAGAGAGAAA GGGAGGAGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGAGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767634	C C	CGCGTGGA others(286): Show CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGG GGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGC GTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGG GGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTG GGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	335	0.0030	293	c.159 others(310): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGG GCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGA GGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGG GGGGGTGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767642	G G	GGGGGCCG others(286): Show GGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGGCGCGTGGAGGAGGAGGGG CGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGG TCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGGTGTGGAG GGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGGCGTGTGG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGG CGCGTGGAGGGGGGCGCGTGGAGGGGGAGCGTGGGGGGCGTGGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	360	0.0028	293	c.159 others(310): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTG GAGGGGGCACGTGGAGGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGC CGTGTGGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCA CGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGAGGGGGAGC GTGGGGGGCGTGGAG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTCH2_chr11_47612317_47647559	47640806	T T	TAAGAATA others(286): Show TAAGAATATTCAAAACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	366	0.0027	293	c.87+ others(308): Show c.87+1572_87+1573insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT TTTGAATATTCTT	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	1/12			chr11	TogoVar
MYDGF_chr19_4652545_4675342	4663600	A A	ACCCACCC others(286): Show ACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCTCAT CCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATT CTACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTCTACAGCCTCC AATCTGTGCCCTCTCCACCCACCCCATCCTCATTCTACACAGCCTCCAAT CTACCCTCCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCCT CCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	407	0.0025	293	c.287 others(310): Show c.287+1275_287+1276insGAGGGTAGATTGGAGGCTGTAGAATGAG GATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGG TGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGT GGAGAGGGCACAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGGAGGGT AGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGG AGGCTGTAGAATGAGGATGAGGTGGGGAGGGTAGATTGGAGGCTGTAGAA TGAGGATGGGGTGGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYL2_chr12_110905845_110925579	110905936	T T	TATAATAT others(286): Show TATAATATATATTTTATAAAATATATATTATATTATATATAATATATATT ATATAAAATATATATTATATATAATATATATTATATAAAATATATATTAT ATATAATATATATTATATAAAAATATATATTATATTATATAATATATATT ATATAAAATATATATTATATTATATATAATATATATTATATAAAATATAT ATTATATTATATATAATATATATTATATAAAATATATATTATATATAATA TATATTATATAAAATATATATTATATTATAATATATATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	366	0.0027	293	c.51 others(304): Show c.5140_*5141insTATATAATATATATTATAATATAATATATATTTT ATATAATATATATTATATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATATAATATATATTATATATAATATAATATA TATTTTATATAATATATATTATATAATATAATATATATTTTTATATAATA TATATTATATATAATATATATTTTATATAATATATATTATATATAATATA TATTTTATATAATATATATTATATATAATATAATATATATTTTATAAAAT ATATATTAT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4908		chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGATGGT others(286): Show GTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGT GGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGT GGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	4	0.2500	293	c.160 others(310): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCAC CATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCATCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(286): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGT GGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0239 a0001c0001t0017g0239	1	4	0.2500	293	c.160 others(310): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACTACTGCCACCGC CGCCACCATCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCATCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(286): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTA GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGT GGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0335 a0001c0001t0055g0335	1	4	0.2500	293	c.160 others(310): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACTACCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCAC CACCACCATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCA CCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(286): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGT GGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0003 a0002c0002t0015g0003	2	5	0.4000	293	c.160 others(310): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCAC CACCACCATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCA CCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(286): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGT GGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTA GTGGTGGTGGTGGTGGTAGTCGTGGTGGTGGTGGTAGTCGTGGTGGTAGT GGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0302 a0002c0002t0019g0302	1	4	0.2500	293	c.160 others(310): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACGACTA CCACCACCACCACCACTACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACTACTGCCAC CGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACCACCACCA CCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(286): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGATGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAG TGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0303 a0002c0002t0001g0303	1	4	0.2500	293	c.160 others(310): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACCACTACCACCACCACCA CCACCACCATCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACTACTGCCACCGCCGCCACCACCACCATCACCACCAC CACCATCACCACCACCACCATCGCCGCCACCACCACCACCACCATCACCA CCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(286): Show GGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAGGGAGGAGGGAG GCAGGAGGGCGGGAGGAGGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAG GGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGG AGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAGA GGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp1 HG03579.hp2 HG01884.hp1 HG03471.hp1 HG03579.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0050 a0002c0006t0006g0051 a0002c0006t0006g0060 a0002c0006t0006g0050 a0002c0006t0006g0051 a0002c0006t0006g0060	3	9	0.3333	293	c.887 others(310): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCT CCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCC TCCTCCCTCCTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCCTCCTCCCTC CCTCCTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCAPG2_chr7_158626169_158709804	158667364	A A	ATCCCTCC others(286): Show ATCCCTCCGCCCTCCTTACCCACTACCGGGTCCCTCCGCCCTCCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	116	0.0086	293	c.148 others(312): Show c.1480-2615_1480-2614insCCCAGTAGTGGGTAAGGCGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG GGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCGGTAGTGGG TAAGGAGGGCGGAGGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667406	T T	TCCCTTAC others(286): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	156	0.0064	293	c.148 others(312): Show c.1480-2657_1480-2656insCGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGT GGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGAC CCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667406	T T	TCCCTTAC others(286): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGT CCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	156	0.0064	293	c.148 others(312): Show c.1480-2657_1480-2656insGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667979	G G	GCCCTCCT others(286): Show GCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCT CCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACC TTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	335	0.0030	293	c.148 others(312): Show c.1480-3230_1480-3229insGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGT GGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACAC AAGGTAGGTAAGGAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEK11_chr3_131021877_131355465	131282270	T T	TTAGTCTG others(286): Show TTAGTCTGGCATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0207 a0012c0015t0001g0207	1	282	0.0035	293	c.171 others(312): Show c.1718+8708_1718+8709insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCCGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCTAGTCTGGCATT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCTGCAGG others(286): Show TCTGCAGGCCACCCTCCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT CCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	247	0.0040	293	c.-33 others(304): Show c.-3315_-3314insCTGCAGGCCACCCTCCCTCCCTCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(286): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	293	c.91+ others(306): Show c.91+432_91+433insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GATGGTGG others(286): Show GATGGTGGGCGTGATGATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGT GGGCATGATGATGATGGGCGTGATGATGATGGGGGGTGATGATGGGCATG ATGATGGGCGTGATGATAGGGGTGATGGTGGGGGTGATGGTGGGCGTGAT GATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGTGGGCATGATGATGAT GGGCGTGATGATGATGGGGGGTGATGATGGGCATGATGATGGGCGTGATG ATAGGGGTGATGGTGGGGGTGATGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG02683.hp1 others(10): Show HG00408.hp1 HG00423.hp2 HG02683.hp1 NA18747.hp1 NA18945.hp1 NA18949.hp2 NA18956.hp1 NA18966.hp2 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA19000.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0013 a0001c0002t0054 others(1): Show a0001c0002t0002 a0001c0002t0013 a0001c0002t0054 a0001c0002t0058	a0001c0002t0002g0002 a0001c0002t0013g0015 a0001c0002t0054g0058 others(1): Show a0001c0002t0002g0002 a0001c0002t0013g0015 a0001c0002t0054g0058 a0001c0002t0058g0060	13	129	0.1008	293	c.10 others(302): Show c.104_*105insACCCCCATCATCACGCCCACCATCACCCCCACCATC ACCCCTATCATCACGCCCATCATCATGCCCATCATCACCCCCCATCATCA TCACGCCCATCATCATCATGCCCACACCCCCATCAGGCCCACCCCCCCCA CCCCCATCATCACGCCCACCATCACCCCCACCATCACCCCTATCATCACG CCCATCATCATGCCCATCATCACCCCCCATCATCATCACGCCCATCATCA TCATGCCCACACCCCCATCAGGCCCACCCCCCCCACCCCCATCATCACGC CCACCAT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GATGGTGG others(286): Show GATGGTGGGTGTGATGATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGT GGGCATGATGATGATGGGCGTGATGATGATGGGGGGTGATGATGGGCATG ATGATGGGCGTGATGATAGGGGTGATGGTGGGGGTGATGGTGGGCGTGAT GATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGTGGGCATGATGATGAT GGGCGTGATGATGATGGGGGGTGATGATGGGCATGATGATGGGCGTGATG ATAGGGGTGATGGTGGGGGTGATGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0026 a0001c0002t0024g0026	1	117	0.0085	293	c.10 others(302): Show c.104_*105insACCCCCATCATCACGCCCACCATCACCCCCACCATC ACCCCTATCATCACGCCCATCATCATGCCCATCATCACCCCCCATCATCA TCACGCCCATCATCATCATGCCCACACCCCCATCAGGCCCACCCCCCCCA CCCCCATCATCACGCCCACCATCACCCCCACCATCACCCCTATCATCACG CCCATCATCATGCCCATCATCACCCCCCATCATCATCACGCCCATCATCA TCATGCCCACACCCCCATCAGGCCCACCCCCCCCACCCCCATCATCACAC CCACCAT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NSUN4_chr1_46335807_46370018	46337331	T T	TAAAAATA others(286): Show TAAAAATACAAAAGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG03098.hp1 others(1): Show HG01891.hp2 HG02257.hp1 HG03098.hp1 HG03579.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0015 a0005c0005t0010 a0005c0005t0015	a0005c0005t0010g0017 a0005c0005t0010g0191 a0005c0005t0015g0190 others(1): Show a0005c0005t0010g0017 a0005c0005t0010g0191 a0005c0005t0015g0190 a0005c0005t0015g0192	4	284	0.0141	293	c.-34 others(304): Show c.-3496_-3495insAAAAATACAAAAGAAGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding		3475		chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103840372	G G	GCTCATCT others(286): Show GCTCATCTCATCTCCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0019 a0001c0004t0017g0019	1	382	0.0026	293	c.208 others(308): Show c.208+576_208+577insATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG GAGATGAGATGAG	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(286): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0159 a0004c0004t0001g0159	1	313	0.0032	293	c.-30 others(304): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar

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