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
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(279): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAG CGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG02723.hp2 others(2): Show HG01884.hp1 HG02647.hp1 HG02723.hp2 HG03516.hp1 NA20129.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0002 a0001c0007 a0001c0055 others(2): Show a0001c0002 a0001c0007 a0001c0055 a0003c0003 a0013c0059	a0001c0002t0054 a0001c0007t0008 a0001c0055t0027 others(2): Show a0001c0002t0054 a0001c0007t0008 a0001c0055t0027 a0003c0003t0004 a0013c0059t0011	a0001c0002t0054g0101 a0001c0007t0008g0067 a0001c0055t0027g0080 others(2): Show a0001c0002t0054g0101 a0001c0007t0008g0067 a0001c0055t0027g0080 a0003c0003t0004g0092 a0013c0059t0011g0082	5	80	0.0625	286	c.135 others(305): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCG CCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCT CCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(279): Show ATATACGTATGTATGTATACATATATGTGTATATATACACGTATGTATGT ATACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATAT ATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATAC ATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATAC GTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATAT ATGTGTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp1 NA18983.hp1 NA19057.hp2 others(3): Show NA18951.hp1 NA18983.hp1 NA19057.hp2 NA19084.hp1 NA19089.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0012 a0001c0001t0014g0244 a0001c0001t0014g0001 a0001c0001t0014g0012 a0001c0001t0014g0244	6	171	0.0351	286	c.37 others(295): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACA TATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACG TGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATA TGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTG TATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(279): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATAT ATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATAC ATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATAC GTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATAT ATGTGTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0249 a0001c0001t0087g0249	1	166	0.0060	286	c.37 others(295): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA TATGTGTATATATATACGTGTGTATGTATACATATATGTGTATATATACG TGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATA TGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTG TATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(279): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATATACGTATGTATGTATACATATATGTGTATAT ATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATAC ATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATAC GTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATAT ATGTGTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0089 a0001c0002t0089	a0001c0002t0089g0183 a0001c0002t0089g0183	1	166	0.0060	286	c.37 others(295): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATATACGTATGTATGTATACA TATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACG TGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATA TGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTG TATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(279): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp2 NA18980.hp1 NA18945.hp2 NA18946.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0312 a0001c0001t0009g0332 a0001c0001t0009g0335 a0001c0001t0003g0312 a0001c0001t0009g0332 a0001c0001t0009g0335	3	356	0.0084	286	c.997 others(303): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGA ACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
LAMB1_chr7_107918799_108008161	107976926	T T	TCTCCTTC others(279): Show TCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCT TCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTC CTTTCCTCTTCCTCCTTCCTTCCTTTCCTCTCTCTCCTTCCTTCCTTTCC TCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCC TCCTTCCTTCCTTTCCTCTTCCTCCTTCCTTCCTTTCCTCTCTCTCCTTC CTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	188	0.0053	286	c.100 others(305): Show c.1001-1050_1001-1049insGGAGAGGAAAGGAAGGAAGGAGGGAG AGGAAAGGAAGGAAGGAGAGAGAGGAAAGGAAGGAAGGAGGAAGAGGAAA GGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGG AAGGAGGGAGAGGAAAGGAAGGAAGGAGAGAGAGGAAAGGAAGGAAGGAG GAAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAG GAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGG AAGGAAGGAG	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding	9/33			chr7	TogoVar
LEMD3_chr12_65164583_65253355	65194817	C C	CTTTAGAT others(279): Show CTTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTATAAATTA TACTTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTATAAAT TATACTTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTATAA ATTATAATTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTAT AAATTATAATTTAGATTATAATTTATAAATTATAATTTAGATTATAATTT ATAAATTATAATTTAGATTATAATTTATAAATTATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02895.hp2 others(5): Show HG02572.hp2 HG02809.hp2 HG02895.hp2 HG03041.hp1 HG03139.hp2 HG03486.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0032 others(5): Show a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0008g0039 a0001c0001t0008g0040	8	153	0.0523	286	c.152 others(307): Show c.1523-16058_1523-16057insCTTTAGATTATAATTTATAAATTA TAATTTAGATTATAATTTATAAATTATACTTTAGATTATAATTTATAAAT TATAATTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTATAA ATTATAATTTAGATTATAATTTATAAATTATAATTTAGATTATAATTTAT AAATTATAATTTAGATTATAATTTATAAATTATAATTTAGATTATAATTT ATAAATTATAATTTAGATTATAATTTATAAATTATAATTTAGATTATAAT TTATAAATTATA	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR6_chr1_202188799_202324761	202205230	C C	CACACACA others(279): Show CACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACACAC ACACACCTAACACACACCTCCTCCAAACACACACACACCTAACACACACC TCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACACACACAC CACACACACATCTAACACACACCTCCTTCAGACACACACCTCCAAACACA CACACACCTTACACACACCTTCAAACACACACACACACCTAACACACACC TCCTTCAAACACACACACCTCCAAACACACACATCTA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02523.hp2 NA18941.hp2 others(1): Show HG02056.hp2 HG02523.hp2 NA18941.hp2 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0151 a0001c0001t0001g0159 a0002c0002t0002g0115 others(1): Show a0001c0001t0001g0151 a0001c0001t0001g0159 a0002c0002t0002g0115 a0002c0002t0002g0152	4	144	0.0278	286	c.212 others(305): Show c.212+11037_212+11038insACCTAACACACACCTTCAAGCACACA CTCCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACA CACCTAACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTT CAAACACACACACACCACACACACATCTAACACACACCTCCTTCAGACAC ACACCTCCAAACACACACACACCTTACACACACCTTCAAACACACACACA CACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACACATC TAACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205230	C C	CACACACA others(279): Show CACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACACAC ACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACACAC ACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACCCGTC CTTCAAACACACACACACCACACACACATCTAACACACACCTCCTTCAGA CACACACCTCCAAACACACACACACCTTACACACACCTTCAAACACACAC ACACCTAACACACACCTCCTTCAAACACACACATCTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02258.hp2 HG02280.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0056 a0004c0003t0003g0057 a0004c0003t0003g0056 a0004c0003t0003g0057	2	142	0.0141	286	c.212 others(305): Show c.212+11037_212+11038insACCTAACACACACCTTCAAGCACACA CTCCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACA CACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACACA CCTAACACACCCGTCCTTCAAACACACACACACCACACACACATCTAACA CACACCTCCTTCAGACACACACCTCCAAACACACACACACCTTACACACA CCTTCAAACACACACACACCTAACACACACCTCCTTCAAACACACACATC TAACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LMF2_chr22_50497949_50512702	50504186	C C	CCCCCCCC others(279): Show CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	410	0.0024	286	c.171 others(303): Show c.1718+153_1718+154insTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGG GGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGG GGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRRC14_chr8_144512992_144530172	144513728	T T	TGGCGTGG others(279): Show TGGCGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGG GGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02970.hp2 others(1): Show HG02145.hp2 HG02572.hp1 HG02970.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0068 a0001c0001t0079 a0001c0001t0037 a0001c0001t0068 a0001c0001t0079	a0001c0001t0037g0005 a0001c0001t0068g0005 a0001c0001t0079g0005 a0001c0001t0037g0005 a0001c0001t0068g0005 a0001c0001t0079g0005	4	410	0.0098	286	c.-44 others(297): Show c.-4425_-4424insGGCGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAG TGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TC	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4263		chr8	TogoVar
LRRC73_chr6_43501968_43515346	43502084	T T	TCTCTCTC others(279): Show TCTCTCTCTCTCTGTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGC CTTAGAGATCATCTAATTCCTATTAAAAAACTGGATAAGTTCTGCAGGTG TGGGAATGCGGGGCCACACACACACACACACACACACACTCTCTCTCTCT CTCTCTCTCTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTTAG AGATCATCTAATTCTTATTAGAAAACTGGATAAGTTCTGCAGGTGTGGGA ATGCGGGGACACACACACACACACACACATACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	358	0.0028	286	c.51 others(297): Show c.5153_*5154insTGTGTGTATGTGTGTGTGTGTGTGTGTGTCCCCG CATTCCCACACCTGCAGAACTTATCCAGTTTTCTAATAAGAATTAGATGA TCTCTAAGGCATCTTCCAGCTAACCTCCTATGAAAGGAGAGAGAGAGAGA GAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGGCCCCGCATTC CCACACCTGCAGAACTTATCCAGTTTTTTAATAGGAATTAGATGATCTCT AAGGCATCTTCCAGCTAACCTCCTATGAAAGGAGAGAGACAGAGAGAGAG AG	LRRC73	ENSG00000204052.5	transcript	ENST00000372441.2	protein_coding		4883		chr6	TogoVar
LRRC73_chr6_43501968_43515346	43502084	T T	TCTCTCTC others(279): Show TCTCTCTCTCTGTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCT TAGAGATCATCTAATTCCTATTAAAAAACTGGATAAGTTCTGCAGGTGTG GGAATGCGGGGCCACACACACACACACACACACACACTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTTAG AGATCATCTAATTCTTATTAGAAAACTGGATAAGTTCTGCAGGTGTGGGA ATGCGGGGACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03834.hp2 HG01515.hp2 HG01517.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	3	360	0.0083	286	c.51 others(297): Show c.5153_*5154insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCCG CATTCCCACACCTGCAGAACTTATCCAGTTTTCTAATAAGAATTAGATGA TCTCTAAGGCATCTTCCAGCTAACCTCCTATGAAAGGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGGCCCCGCAT TCCCACACCTGCAGAACTTATCCAGTTTTTTAATAGGAATTAGATGATCT CTAAGGCATCTTCCAGCTAACCTCCTATGAAAGGAGAGAGACAGAGAGAG AG	LRRC73	ENSG00000204052.5	transcript	ENST00000372441.2	protein_coding		4883		chr6	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(279): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03471.hp2 HG03688.hp2 others(1): Show HG02155.hp2 HG03471.hp2 HG03688.hp2 HG03834.hp2	a0001 a0027 a0001 a0027	a0001c0005 a0027c0053 a0001c0005 a0027c0053	a0001c0005t0005 a0027c0053t0020 a0001c0005t0005 a0027c0053t0020	a0001c0005t0005g0152 a0001c0005t0005g0219 a0001c0005t0005g0278 others(1): Show a0001c0005t0005g0152 a0001c0005t0005g0219 a0001c0005t0005g0278 a0027c0053t0020g0013	4	311	0.0129	286	c.839 others(303): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LY75_chr2_159798355_159909756	159874075	T T	TACATATA others(279): Show TACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTT TGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGT ATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAATACAT ATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAA AAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATA TTTTGTAAAAATATATAAACGTATATATTTTGTAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18950.hp1 NA18999.hp1 others(1): Show HG00673.hp2 NA18950.hp1 NA18999.hp1 NA19064.hp1	a0005 a0013 a0005 a0013	a0005c0006 a0013c0026 a0005c0006 a0013c0026	a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 others(1): Show a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 a0013c0026t0001	a0005c0006t0001g0012 a0005c0006t0002g0018 a0005c0006t0003g0027 others(1): Show a0005c0006t0001g0012 a0005c0006t0002g0018 a0005c0006t0003g0027 a0013c0026t0001g0232	4	230	0.0174	286	c.197 others(305): Show c.1974+1368_1974+1369insTTTTACAAAATATATACGTTTATATA TTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTT TATATGTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATA TATACGTTTATATGTATTTTTACAAAATATATACGTTTATATGTATTTTT ACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTTTATAT GTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATAC GTTTATATGT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MASP2_chr1_11021523_11052239	11041736	T T	TAGAAGAA others(279): Show TAGAAGAATGGGTGGATGGATAGATAGATGGCTGGAAGGATGGATTAATG GGTGGATTGATGGATGGGTAGGATTGGTAGGTAGAAGGATGGGTGGGTGG ATAGATGGATAGCTGGAAGGAATGGATGGATGGATGCATGGATACATGGA TGGATGGATGGATGGATAGATGGATAGATAGATAGATAGATAGATAGATA GATAGATAGATAGACAGACAGATATGTAGAAGGGTGGGTGGATGGGTAGA TAAATAGAAGGATGGGTGGATAGAGGATGAGTGGGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	203	0.0049	286	c.889 others(303): Show c.889+1138_889+1139insCACCCACTCATCCTCTATCCACCCATCC TTCTATTTATCTACCCATCCACCCACCCTTCTACATATCTGTCTGTCTAT CTATCTATCTATCTATCTATCTATCTATCTATCTATCCATCTATCCATCC ATCCATCCATCCATGTATCCATGCATCCATCCATCCATTCCTTCCAGCTA TCCATCTATCCACCCACCCATCCTTCTACCTACCAATCCTACCCATCCAT CAATCCACCCATTAATCCATCCTTCCAGCCATCTATCTATCCATCCACCC ATTCTTCT	MASP2	ENSG00000009724.18	transcript	ENST00000400897.8	protein_coding	6/10			chr1	TogoVar
MBNL2_chr13_97217333_97399120	97329640	C C	CACACACA others(279): Show CACACACAATACACATACAACATGCACACACACCCCATACACATACACAA CACACATACCATATACATAACACACACATACACATATAGCACACACACAA CACAAACACACACAACAGAAAATATACAGCACACACACAACACAAACACA ACAGTCAATACACACACACAATATACACACACAATACACATACAACATAC ACACCTACCCCATGCAGGCTTACAACACACATACCATATACATAACACAC ACATACACATACAGCACACATAACACAAACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	2	0.5000	286	c.175 others(303): Show c.175-4622_175-4621insTACAACATGCACACACACCCCATACACA TACACAACACACATACCATATACATAACACACACATACACATATAGCACA CACACAACACAAACACACACAACAGAAAATATACAGCACACACACAACAC AAACACAACAGTCAATACACACACACAATATACACACACAATACACATAC AACATACACACCTACCCCATGCAGGCTTACAACACACATACCATATACAT AACACACACATACACATACAGCACACATAACACAAACACACACAACACAC AATACACA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97329642	C C	CACACAAT others(279): Show CACACAATACACATACAACATGCACACACACCCCATACACATACACAACA CACATACCATATACATAACACACACATACACATATAGCACACACACAACA CAAACACACACAACAGAAAATACACAGCACACACACAACACAAACACACA ACAGTCAATACACACACACAATATACACACACAATACACATACAACATAC ACACCTACCCCATGCAGGCTTACAACACACATACCATATACATAACACAC ACATACACATACAGCACACATAACACAAACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	252	0.0040	286	c.175 others(303): Show c.175-4622_175-4621insTACAACATGCACACACACCCCATACACA TACACAACACACATACCATATACATAACACACACATACACATATAGCACA CACACAACACAAACACACACAACAGAAAATACACAGCACACACACAACAC AAACACACAACAGTCAATACACACACACAATATACACACACAATACACAT ACAACATACACACCTACCCCATGCAGGCTTACAACACACATACCATATAC ATAACACACACATACACATACAGCACACATAACACAAACACACACAACAC AATACACA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBTPS1_chr16_84048763_84121942	84050796	C C	CCATGTGG others(279): Show CCATGTGGGTAAGGAGAGTGGCAAGGGCCGCATGTGGGTAAGGAGAGCTG CAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGA GAGCTGCAAGGCCCACATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTG GGTAAGGAGAGCTACAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCC GCATGTGGGTAAGAAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGC AAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 NA19066.hp1 HG00280.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0068 a0001c0001t0001g0081	2	418	0.0048	286	c.36 others(297): Show c.3652_*3653insCGGGCCTTGCCGCTCTCCTTACCCACATGCGGGC CTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTTCTTACCCACA TGCGGCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTAGCTCTCCTT ACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGTGGGCCTTGCAG CTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATGCGGCC TTGCAGCTCTCCTTACCCACATGCGGCCCTTGCCACTCTCCTTACCCACA TG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2966		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84050860	G G	GGTAAGGA others(279): Show GGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCG CATGTGGGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGCGGC AAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTAAGG AGAGCTGCAAGGCCGCATGTGGGTAAGAAGAGCTGCAAGGCCGCATGTGG GTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCCC GCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	319	0.0031	286	c.35 others(297): Show c.3588_*3589insGCACATGCGGGCCTTGCCGCTCTCCTTACCCACA TGCGGGCCTTGCCGCTCTCCTTACCCACATGCGGGCCTTGCAGCTCTCCT TACCCACATGCGGCCTTGCAGCTCTTCTTACCCACATGCGGCCTTGCAGC TCTCCTTACGCACATGCGGGCCTTGTAGCTCTCCTTACCCACATGCGGGC CTTGCCGCTCTCCTTACCCACATGTGGGCCTTGCAGCTCTCCTTACCCAC ATGCGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTT AC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2902		chr16	TogoVar
MCC_chr5_113017106_113493453	113333800	T T	TGTATATA others(279): Show TGTATATATGTACATATATGTATATATGTACATATATACATATATGTACA TATATGTATATATGTACATATATACATATATGTACATATATGTACATATG TACATATACATATATATGTACATATGTACATATATGTACATATACGTATA TATGTACATATATGTATATATGTACATATATGTACATATATGTACATATG TACATATACGTATATATGTACATATGTACATATACGTATATATGTACATA TGTACATATACGTATATATGTACATATGTACATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0037 a0003c0037	a0003c0037t0032 a0003c0037t0032	a0003c0037t0032g0025 a0003c0037t0032g0025	1	154	0.0065	286	c.627 others(303): Show c.627+6718_627+6719insGTATATGTACATATGTACATATATACGT ATATGTACATATGTACATATATACGTATATGTACATATGTACATATATAC GTATATGTACATATGTACATATATGTACATATATGTACATATATACATAT ATGTACATATATACGTATATGTACATATATGTACATATGTACATATATAT GTATATGTACATATGTACATATATGTACATATATGTATATATGTACATAT ATACATATATGTACATATATGTATATATGTACATATATACATATATGTAC ATATATAC	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L_chr13_112964214_113104742	113012796	C C	CGGACGGT others(279): Show CGGACGGTGGACAGGCGGTGTGGACGGTGGACACTGTGATGCGGACGGTG GACAGGCGGTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGTGG TGTGGACGGTGGACACTGCAGTGTGGATGGTGGACAGGTGGTGTGGACGG TGGACAGGCAGTGTGGACGGTGGACACTGTGATGCAGACAGTGGACAGGC GGTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGAC GGTGGACACTGCAGTGTGGATGGTGGACAGGCGGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0101 a0003c0009t0011g0101	1	101	0.0099	286	c.80- others(301): Show c.80-1891_80-1890insTGATGCGGACGGTGGACAGGTGGTGTGGAC GGTGGACACTGCAGTGTGGATGGTGGACAGGTGGTGTGGACGGTGGACAG GCAGTGTGGACGGTGGACACTGTGATGCAGACAGTGGACAGGCGGTGTGG ACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGGAC ACTGCAGTGTGGATGGTGGACAGGCGGTGTGGACGGTGGACAGGCGGTGT GGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGG ACACTG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113012796	C C	CGGACGGT others(279): Show CGGACGGTGGACAGGCGGTGTGGACGGTGGACACTGTGATGCGGACGGTG GACAGGCGGTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGTGG TGTGGACGGTGGACACTGCAGTGTGGATGGTGGACAGGTGGTGTGGACGG TGGACAGGCAGTGTGGACGGTGGACACTGTGATGCAGACAGTGGACAGGC GGTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGAC GGTGGACACTGCAGTGTGGATGGTGGACAGGTGGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01257.hp1 HG01258.hp1 others(10): Show HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp2 HG02129.hp1 HG06807.hp1 NA18522.hp2 NA18946.hp1 NA19085.hp1 NA19240.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0020 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0005c0011t0002	a0001c0001t0001g0037 a0001c0001t0001g0094 a0001c0001t0003g0099 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0094 a0001c0001t0003g0099 a0001c0001t0006g0108 a0001c0001t0020g0107 a0001c0002t0002g0093 a0001c0003t0001g0086 a0001c0003t0001g0092 a0001c0005t0001g0020 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0081 a0005c0011t0002g0090	13	113	0.1150	286	c.80- others(301): Show c.80-1891_80-1890insTGATGCGGACGGTGGACAGGTGGTGTGGAC GGTGGACACTGCAGTGTGGATGGTGGACAGGTGGTGTGGACGGTGGACAG GCAGTGTGGACGGTGGACACTGTGATGCAGACAGTGGACAGGCGGTGTGG ACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGGAC ACTGCAGTGTGGATGGTGGACAGGTGGTGTGGACGGTGGACAGGCGGTGT GGACGGTGGACACTGTGATGCGGACGGTGGACAGGCGGTGTGGACGGTGG ACACTG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCTP2_chr15_94226561_94488952	94243318	T T	TATATGCG others(279): Show TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACA TACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTA TGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCG TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACA TACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTA TGTACACACATACGTATGCGTATATGCGTATGTACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02735.hp1 HG02738.hp2 HG01358.hp1 HG02735.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0049 a0001c0001t0001 a0001c0001t0002 a0001c0006t0049	a0001c0001t0001g0086 a0001c0001t0002g0084 a0001c0006t0049g0240 a0001c0001t0001g0086 a0001c0001t0002g0084 a0001c0006t0049g0240	3	199	0.0151	286	c.-66 others(305): Show c.-66+11655_-66+11656insTATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACA CATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCG TATGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACA CATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCG TATGTACACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MFSD3_chr8_144504070_144516213	144513728	T T	TGGCGTGG others(279): Show TGGCGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGG GGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02970.hp2 others(1): Show HG02145.hp2 HG02572.hp2 HG02970.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	4	397	0.0101	286	c.25 others(297): Show c.2564_*2565insGGCGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAG TGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TC	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2516		chr8	TogoVar
MGAT4C_chr12_85950667_86261391	86110255	A A	ATATATAT others(279): Show ATATATATATAGACTATATATATATAGTCTATATATATAGTCTATATATA TAGTCTATATATATATAGTCTATATATATAGTCTATATATATATAGTCTA TATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATAT ATATAGTCTATATATATAGACTATATATATATAGACTATATATATAGTCT ATATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATA TATATAGTCTATATATATATAGTCTATATATATAGAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	180	0.0056	286	c.-56 others(305): Show c.-56-60533_-56-60532insGTCTATATATATAGACTATATATATA TAGACTATATATATATAGACTATATATATATAGACTATATATATATAGAC TATATATATATAGACTATATATATAGTCTATATATATATAGTCTATATAT ATAGACTATATATATATAGACTATATATATATAGACTATATATATATAGA CTATATATATATAGACTATATATATATAGACTATATATATAGACTATATA TATATAGACTATATATATAGACTATATATATAGACTATATATATATAGTC TATATATATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(279): Show GGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAG AGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGA GGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGA GGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGG AGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGGAGAGGAGGGTAAGGAGG AGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0170 a0002c0003t0002g0170	1	8	0.1250	286	c.641 others(301): Show c.641+260_641+261insTCCTCTTCCTCCTGTTCCTCCTCTCCCTTC TCTCCCTCCTCCTTACCCTCCTCTCCCCCCTCTTTCTCTTCCTTCTCTCT CTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGTCCTCACC CTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCCCTTCCTT CTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCCTTCCCCT CCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTCCCCTTCC TCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MINAR1_chr15_79427336_79477304	79439211	T T	TGTGTGGG others(279): Show TGTGTGGGTGTGGGTGGGGTGGGTAGTGAGTGTGTGGGTGTGGGTGGGGT GGGTAGTGTGTGGGTGTGGATGGGGTAGGTAGTGTGTGGGGTGTGGGTGG GATGGGTAGTAAGGGTGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGGT GGATAGTGGGTGTGTGTGGGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGG GTGTGTGTAGGTTGTGGGGTGTGGGTGGGGTGGGTAGTAAGTGTGTGGGG TGTGGGGTGGGTGGTGTGTGGGTGGGGTGGGTAGTGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0207 a0001c0004t0001g0207	1	333	0.0030	286	c.-51 others(303): Show c.-51+6678_-51+6679insTGTGGGTGGGGTGGGTAGTGAGTGTGTG GGTGTGGGTGGGGTGGGTAGTGTGTGGGTGTGGATGGGGTAGGTAGTGTG TGGGGTGTGGGTGGGATGGGTAGTAAGGGTGTGGGGTGGGTAGTGAGTGT GTGGGGTGTGGGGTGGATAGTGGGTGTGTGTGGGTGGGGTGGGTAGTGAG TGTGTGGGGTGTGGGTGTGTGTAGGTTGTGGGGTGTGGGTGGGGTGGGTA GTAAGTGTGTGGGGTGTGGGGTGGGTGGTGTGTGGGTGGGGTGGGTAGTG AGTGTGGG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(279): Show GGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAGGGAGGAGGGAG GCAGGAGGGCGGGAGGAGGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAG GGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAGGGAGG AGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAGAGGAGGGA GGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0004 a0002c0006t0006g0004	1	7	0.1429	286	c.887 others(303): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCG CCCTCCTGCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCC TCCTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCCTCCTCCCTCCCTCCTC CCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCAPH2_chr22_50503224_50529780	50504186	C C	CCCCCCCC others(279): Show CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	378	0.0026	286	c.-41 others(297): Show c.-4152_-4151insCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCA CCCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACC CCGGGCTCCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACACCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CA	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4037		chr22	TogoVar
NDUFB1_chr14_92111123_92126706	92120589	G G	GTCCGCCC others(279): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCACCA TGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	177	0.0056	286	c.-6+ others(301): Show c.-6+1052_-6+1053insTCACGAGGTCAGGAGATCAAGACCATCCTG GCTAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAAAAATTAGCT GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGC GCCACTGCACTCCAGCCTGGGCCACAGAGAGAAAAAAAAAAAAAAAAGCC GGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCG GGCGGA	NDUFB1	ENSG00000183648.11	transcript	ENST00000605997.6	protein_coding	1/2			chr14	TogoVar
NDUFV3_chr21_42888309_42918299	42894351	A A	AAATATAT others(279): Show AAATATATATATATAATATATATTATATATAAATATATAATATATATTAT ATATAAATATATAATATATATTATATATAAATATATAATATATATAATAT ATATTATATATAATATATAATATATATAATATATATAATATATAATATAT AATATATATAATATATATTATAATATATAATATATATAATATATAATATA TATTATATATAAATATATAATATATAATATATATTATATATAAATATATA ATATATAATATATATTATATATAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19011.hp2 NA19075.hp1 HG00642.hp1 NA19011.hp2 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0038 a0002c0002t0005g0178 a0002c0002t0005g0179 a0002c0002t0005g0038 a0002c0002t0005g0178 a0002c0002t0005g0179	3	279	0.0108	286	c.48+ others(299): Show c.48+979_48+980insATATAATATATATTATATATAAATATATAATA TATATTATATATAAATATATAATATATATTATATATAAATATATAATATA TATAATATATATTATATATAATATATAATATATATAATATATATAATATA TAATATATAATATATATAATATATATTATAATATATAATATATATAATAT ATAATATATATTATATATAAATATATAATATATAATATATATTATATATA AATATATAATATATAATATATATTATATATAAATATATATTATATAATAT ATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894366	A A	ATAATATA others(279): Show ATAATATATATTATATATAAATATATAATATATATTATATATAAATATAT AATATATATTATATATAAATATATAATATATATAATATATATTATATATA AATATATAATATATATTATATATTATATATATTATAATATATATAATATA TAATATATATTATATATAAATATATATAATATATAATATATATTATATAT AAATATATATAATATATAATATATATTATATATAAATATATATAATATAT AATATATATTATATATAATATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0080 a0002c0002t0004g0080	1	345	0.0029	286	c.48+ others(299): Show c.48+987_48+988insATATATATTATATATAAATATATAATATATAT TATATATAAATATATAATATATATTATATATAAATATATAATATATATAA TATATATTATATATAAATATATAATATATATTATATATTATATATATTAT AATATATATAATATATAATATATATTATATATAAATATATATAATATATA ATATATATTATATATAAATATATATAATATATAATATATATTATATATAA ATATATATAATATATAATATATATTATATATAATATATAATATATATTAT ATTA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATATGTA others(279): Show CATATGTATATATACACACATATGTGTATATACACATATGTATATATGTA TATATACACACATATGTGTATATACACATATGTATATATGTATATATACA CACATATGTGTATATACACATATGTATATATGTATATATACACACATATG TGTATATACACATATGTATATATGTATATATACACACATATGTGTATATA CACATATGTATATATGTATATATACACACATATGTGTATATACACATATG TATATATGTATATATACACACATATGTATATACGTAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02723.hp1 HG01993.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0034 a0001c0001t0001g0045	2	11	0.1818	286	c.409 others(303): Show c.409+6947_409+6948insATACGTATATACATATGTGTGTATATAT ACATATATACATATGTGTATATACACATATGTGTGTATATATACATATAT ACATATGTGTATATACACATATGTGTGTATATATACATATATACATATGT GTATATACACATATGTGTGTATATATACATATATACATATGTGTATATAC ACATATGTGTGTATATATACATATATACATATGTGTATATACACATATGT GTGTATATATACATATATACATATGTGTATATACACATATGTGTGTATAT ATACATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71928191	T T	TATATACA others(279): Show TATATACACATATGTATATATGTATATATACACACATATGTGTATATACA CATATGTATATATGTATATATACACACATATGTGTATATACACATATGTA TATATGTATATATACACACATATGTGTATATACACATATGTATATATGTA TATATACACACATATGTGTATATACACATATGTATATATGTATATATACA CACATATGTGTATATACACATATGTATATACGTATATATGTATATATACA CACATATGTATATACGTATATATGTATATATACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	60	0.0167	286	c.409 others(303): Show c.409+6887_409+6888insGTGTGTATATATACATATATACGTATAT ACATATGTGTGTATATATACATATATACGTATATACATATGTGTATATAC ACATATGTGTGTATATATACATATATACATATGTGTATATACACATATGT GTGTATATATACATATATACATATGTGTATATACACATATGTGTGTATAT ATACATATATACATATGTGTATATACACATATGTGTGTATATATACATAT ATACATATGTGTATATACACATATGTGTGTATATATACATATATACATAT GTGTATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241806645	A A	ACCCTCCC others(279): Show ACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0164 a0002c0003t0002g0164	1	201	0.0050	286	c.-26 others(297): Show c.-2633_-2632insCCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC TT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2547		chr2	TogoVar
NEU4_chr2_241804193_241822413	241820030	G G	GTCTATGC others(279): Show GTCTATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGG TGCATCCTGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGTAGGTTGTG TGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCCTCGTGGTGTGTGTGTA GGTTGTGTTCTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCC GTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTC GTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0141 a0002c0003t0002g0141	1	311	0.0032	286	c.29 others(297): Show c.2982_*2983insTCTATGCGTGTGTCCTGGCTCGTGGCCCGTGTGT AGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCATGGCC CGTGTGTAGGTTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCCT CGTGGTGTGTGTGTAGGTTGTGTTCTGGGTGCATCCTCTCATGCGTGTGT CCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATG CGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCC TC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2618		chr2	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(279): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGA GGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGG AGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGA AGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCA GGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	32	0.0313	286	c.563 others(305): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTCC CTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCAC CCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCGTCCCTCCCTCCCTCCCTC CTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NLRP8_chr19_55942832_55993629	55993478	T T	TCTCCCCC others(279): Show TCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCTCTCCCTCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CTTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCT CCCCTTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0026 a0013c0018t0026	a0013c0018t0026g0154 a0013c0018t0026g0154	1	312	0.0032	286	c.55 others(297): Show c.5565_*5566insCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCTC TCCCTCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCC TCCCCCTCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4850		chr19	TogoVar
NME4_chr16_392199_405754	397709	T T	TGGGGGGG others(279): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	286	c.91+ others(299): Show c.91+425_91+426insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG GGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(279): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0012 a0006c0016t0012	a0006c0016t0012g0299 a0006c0016t0012g0299	1	276	0.0036	286	c.195 others(303): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATATACTAACTATATTAATA TAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NPDC1_chr9_137034463_137051177	137050204	C C	CTACCCAC others(279): Show CTACCCACGACAAAGTTCCCAGCCACCGCCTGTCCCTACCACGACAAAGT TCCCAGCCACCCGCTCGCCCTTACCCACGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCAGC CACCCGCCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	361	0.0028	286	c.-42 others(297): Show c.-4216_-4215insAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAG TAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGGCGG GTGGCTGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCGAGCGGGTGGCTG GGAACTTTGTCGTGGTAGGGACAGGCGGTGGCTGGGAACTTTGTCGTGGG TA	NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding		4028		chr9	TogoVar
OLA1_chr2_174067447_174253532	174164348	A A	AATACCAT others(279): Show AATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGCAGAA TGGATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGCAG AATGGATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGC AGAATGGATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGT GCAGAATGGATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATA GTGCAGAATGGATACCATTCTGCATAGTGCAGAATGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0259 a0001c0001t0008g0259	1	80	0.0125	286	c.374 others(305): Show c.374-22349_374-22348insCCATTCTGCACTATGCAGAATGGTAT CCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAGAATGGT ATCCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAGAATG GTATCCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAGAA TGGTATCCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAG AATGGTATCCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGC AGAATGGTAT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10			chr2	TogoVar
PAK1_chr11_77317017_77479094	77332361	A A	AGGGGAGG others(279): Show AGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGG GGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGAGGGGAGGGG GAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	299	0.0033	286	c.155 others(303): Show c.1551+368_1551+369insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCC TCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCC TCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTC CCCTCCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(279): Show TTCCCTCCCCTCTCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTGCCCTCCCCCTCCCTTCCCCTGCCCTCCCCCTCCCCCTCC CCTCCCCACTTCCCCTCCCCCTCCCCTGCCCTCCTCCTCCCCCTCCCTCA TCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02040.hp2 HG00597.hp2 HG02040.hp2	a0001 a0004 a0001 a0004	a0001c0011 a0004c0071 a0001c0011 a0004c0071	a0001c0011t0001 a0004c0071t0001 a0001c0011t0001 a0004c0071t0001	a0001c0011t0001g0233 a0004c0071t0001g0329 a0001c0011t0001g0233 a0004c0071t0001g0329	2	8	0.2500	286	c.-37 others(297): Show c.-3700_-3699insGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAG GGATGAGGGAGGGGGAGGAGGAGGGCAGGGGAGGGGGAGGGGAAGTGGGG AGGGGAGGGGGAGGGGGAGGGCAGGGGAAGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGAGAGGGGAGG GA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDE7B_chr6_135846701_136200574	136045901	T T	TAGAATTT others(279): Show TAGAATTTGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0120 a0001c0001t0017g0120	1	123	0.0081	286	c.83- others(303): Show c.83-62823_83-62822insGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAATTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGGC others(279): Show GGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT GGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0092 a0001c0001t0011g0092	1	296	0.0034	286	c.143 others(301): Show c.143-309_143-308insGGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTGGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGG GGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKHD1L1_chr8_109357461_109542207	109358643	C C	CAAAAAAT others(279): Show CAAAAAATATTAAGGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT CAGGAGATCGAGACCATCCTGGCTAACAAGGGGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(25): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01515.hp2 HG01516.hp1 HG02004.hp2 HG02145.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA20129.hp1	a0003 a0005 a0013 others(9): Show a0003 a0005 a0013 a0017 a0022 a0027 a0030 a0037 a0047 a0054 a0058 a0068	a0003c0003 a0005c0005 a0013c0014 others(10): Show a0003c0003 a0005c0005 a0013c0014 a0017c0018 a0022c0030 a0022c0031 a0027c0039 a0030c0038 a0037c0032 a0047c0037 a0054c0045 a0058c0034 a0068c0043	a0003c0003t0003 a0003c0003t0015 a0005c0005t0005 others(11): Show a0003c0003t0003 a0003c0003t0015 a0005c0005t0005 a0013c0014t0003 a0017c0018t0003 a0022c0030t0004 a0022c0031t0004 a0027c0039t0015 a0030c0038t0030 a0037c0032t0004 a0047c0037t0027 a0054c0045t0003 a0058c0034t0003 a0068c0043t0029	a0003c0003t0003g0001 a0003c0003t0003g0150 a0003c0003t0003g0162 others(23): Show a0003c0003t0003g0001 a0003c0003t0003g0150 a0003c0003t0003g0162 a0003c0003t0003g0167 a0003c0003t0003g0168 a0003c0003t0003g0171 a0003c0003t0003g0172 a0003c0003t0003g0173 a0003c0003t0003g0174 a0003c0003t0015g0006 a0003c0003t0015g0008 a0005c0005t0005g0276 a0013c0014t0003g0169 a0013c0014t0003g0170 a0013c0014t0003g0175 a0017c0018t0003g0159 a0017c0018t0003g0160 a0022c0030t0004g0272 a0022c0031t0004g0273 a0027c0039t0015g0007 a0030c0038t0030g0151 a0037c0032t0004g0154 a0047c0037t0027g0153 a0054c0045t0003g0164 a0058c0034t0003g0165 a0068c0043t0029g0274	28	273	0.1026	286	c.-39 others(297): Show c.-3938_-3937insAAAAAATATTAAGGCACTTTGGGAGGCCGAGGCG GGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGGGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCA GTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AA	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding		3817		chr8	TogoVar
PKP3_chr11_389209_409908	401808	G G	GCCCCGCT others(279): Show GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGCCCCGC TCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03492.hp2 HG03017.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0161 a0001c0003t0001g0162	2	165	0.0121	286	c.173 others(305): Show c.1737+1103_1737+1104insCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GGCCCCGCTCACCCCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACC CGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEKHG4B_chr5_87168_194966	166145	C C	CGGGGCGG others(279): Show CGGGGCGGAGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACTAA TGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCA CACTAATGCTGTGACAGGGGTCGGAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA TGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0018 a0006c0021t0018	a0006c0021t0018g0198 a0006c0021t0018g0198	1	196	0.0051	286	c.347 others(305): Show c.3476+2604_3476+2605insAGCTCACACTAATGCTGTGACAGGGG TCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTCTGATGGGGCGGAGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGA CAGGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar

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