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
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAC others(223): Show TGGAATACATATATATGGAATACATATATATGGAATACACATATGGAATA CATATATATGGAATACATATATGGAATACATATATATGGAATACATATAT GGAATACATATATATGGAATACATATATGGAATACATATATATGGAATAC ATATATGGAATACATATATATGGAATACATATATGGAATACATATATGTG GAATACATATATGGAATATATATATATGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 NA20300.hp1 HG00408.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0002 a0002c0002t0014	a0002c0002t0002g0213 a0002c0002t0014g0202 a0002c0002t0002g0213 a0002c0002t0014g0202	2	323	0.0062	230	c.-21 others(241): Show c.-2147_-2146insGGAATACATATATATGGAATACATATATATGGAA TACACATATGGAATACATATATATGGAATACATATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATATGGAATACATATATG GAATACATATATGTGGAATACATATATGGAATATATATATATGTGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAC others(223): Show TGGAATACATATATATGGAATACATATATATGGAATACACATATGGAATA CATATATATGGAATACATATATGGAATACATATATATGGAATACATATAT GGAATACATATATATGGAATACATATATGGAATACATATATATGGAATAC ATATATGGAATACATATATATGGAATACATATATGGAATATATATATGTG GAATACATATATGGAATATATATATATGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	323	0.0031	230	c.-21 others(241): Show c.-2147_-2146insGGAATACATATATATGGAATACATATATATGGAA TACACATATGGAATACATATATATGGAATACATATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATATGGAATACATATATG GAATATATATATGTGGAATACATATATGGAATATATATATATGTGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IGSF9B_chr11_133891438_133961968	133932683	G G	GCAGACAG others(223): Show GCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACA GACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAA GCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGC AGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGA CAGACACAGGGAAGCCAGGTGGGAGAGCAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0081 a0001c0037t0081	a0001c0037t0081g0300 a0001c0037t0081g0300	1	362	0.0028	230	c.968 others(245): Show c.968-471_968-470insTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTC TGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGG CTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGT CTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTG	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IL1A_chr2_112768925_112789493	112776447	T T	TGACCCGC others(223): Show TGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGAC CCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGC CCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCC TCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCCTCCT CTGAATGTCCTACCCAAAAACCCACAACCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01070.hp1 others(25): Show HG00280.hp1 HG00735.hp1 HG01070.hp1 HG01175.hp2 HG01934.hp1 HG01943.hp1 HG02135.hp1 HG02148.hp2 HG02486.hp1 HG03139.hp2 HG03490.hp1 HG03927.hp2 NA18943.hp2 NA18945.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18981.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA19002.hp2 NA19006.hp2 NA19060.hp1 NA19064.hp2 NA19081.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0007g0059	28	358	0.0782	230	c.615 others(247): Show c.615+1310_616-1181dupGTGGTTGTGGGTTTTTGGGTAGGACATT CAGAGGAGGGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGA GGAGGGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAG GGGGCGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAGGGGG CGGGTCGTGGTTGTGGGTTTTTGGGTAGGACATTCAGAGGAGGGGGCGGG TC	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
INTS9_chr8_28762661_28894969	28880277	T T	TCCCTCTC others(223): Show TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	358	0.0028	230	c.9+9 others(243): Show c.9+9596_9+9597insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	INTS9	ENSG00000104299.15	transcript	ENST00000521022.6	protein_coding	1/16			chr8	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(223): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT ATATGAAATATATATATGATATATATATGAAATATATATATGATATATAT ATGAAATATATATATGATATATATATGAAAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18970.hp2 HG02056.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0277 a0001c0001t0001g0198 a0001c0001t0001g0277	2	344	0.0058	230	c.25- others(245): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATATGAAATATATATATGATATATATATGAAATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITLN2_chr1_160940025_160959809	160946154	C C	CAAAAAAA others(223): Show CAAAAAAATTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0112 a0002c0006t0001g0112	1	480	0.0021	230	c.826 others(245): Show c.826-863_826-862insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAATTTTTTT	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding	7/7			chr1	TogoVar
JAZF1_chr7_27825577_28185795	28110448	A A	AAAAGGAA others(223): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	206	0.0049	230	c.115 others(249): Show c.115+70014_115+70015insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
KALRN_chr3_124028369_124731325	124436830	T T	TGTGATGC others(223): Show TGTGATGCTAGAGATGGGACTGGAGAAGTCACCTCAAGTTTGGTGACAGA TCTTCTCATGTGATGCTAGAGATGGGACTAGGGAAGTCACCTCAAGTTTG GTGACAGATCTTCTCATGTGATGCTAGAGATGGGACTAGGGAAGTCACCT CAAGTTTGGTGACAGATCTTCTCATGTGATGCTAGAGATGGGACTGGAGA AGTCACCTCAAGTTTGGTGACAGATCTTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02273.hp1 NA18612.hp2 others(4): Show HG00323.hp2 HG02273.hp1 NA18612.hp2 NA18947.hp2 NA18955.hp1 NA19002.hp1 NA19010.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0010 others(2): Show a0001c0004 a0001c0005 a0001c0010 a0001c0011 a0001c0033	a0001c0004t0030 a0001c0005t0001 a0001c0010t0002 others(2): Show a0001c0004t0030 a0001c0005t0001 a0001c0010t0002 a0001c0011t0001 a0001c0033t0001	a0001c0004t0030g0052 a0001c0005t0001g0023 a0001c0005t0001g0034 others(4): Show a0001c0004t0030g0052 a0001c0005t0001g0023 a0001c0005t0001g0034 a0001c0005t0001g0035 a0001c0010t0002g0067 a0001c0011t0001g0017 a0001c0033t0001g0037	7	116	0.0603	230	c.304 others(249): Show c.3049-2057_3049-1828dupGTGATGCTAGAGATGGGACTGGAGAA GTCACCTCAAGTTTGGTGACAGATCTTCTCATGTGATGCTAGAGATGGGA CTAGGGAAGTCACCTCAAGTTTGGTGACAGATCTTCTCATGTGATGCTAG AGATGGGACTAGGGAAGTCACCTCAAGTTTGGTGACAGATCTTCTCATGT GATGCTAGAGATGGGACTGGAGAAGTCACCTCAAGTTTGGTGACAGATCT TCTC	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	17/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124436830	T T	TGTGATGC others(223): Show TGTGATGCTAGAGATGGGACTGGAGAAGTCACCTCAAGTTTGGTGACAGA TCTTCTTATGTGATGCTAGAGATGGGACTGGAGAAGTCACCTCAAGTTTG ATGACAGATCTTCTCATGTGATGCTAGAGATGGGACTGGAGAAGTCACCT CAAGTTTGATGACAGATCTTCTCATGTGATGCTAGAGATGGGACTAGAGA AGTCACCTCAAGTTTGGTGACAGATCTTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG00735.hp1 HG01074.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0083 a0001c0020t0008g0084 a0001c0020t0008g0083 a0001c0020t0008g0084	2	116	0.0172	230	c.304 others(249): Show c.3049-2003_3049-2002insTATGTGATGCTAGAGATGGGACTGGA GAAGTCACCTCAAGTTTGATGACAGATCTTCTCATGTGATGCTAGAGATG GGACTGGAGAAGTCACCTCAAGTTTGATGACAGATCTTCTCATGTGATGC TAGAGATGGGACTAGAGAAGTCACCTCAAGTTTGGTGACAGATCTTCTCG TGATGCTAGAGATGGGACTGGAGAAGTCACCTCAAGTTTGGTGACAGATC TTCT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	17/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(223): Show TTAATGCATAAATATATGCATATATTTAATACATAAATATATGCATATAT TTATGTATTAATATATGCATATATTTAATACATAAATATATGCATATATT TAATACATAAATATATGCATATATTTAATACATAAATATATGCATATATT TAATACATAAATATATGCATATATGTATATATATAAAATATATGCATATA TGTATATATATAAAATATATACATATATGTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	164	0.0061	230	c.211 others(251): Show c.2113-34249_2113-34248insTACATATATGTATATATTTTATAT ATATACATATATGCATATATTTTATATATATACATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTAA TACATAAATATATGCATATATTTATGTATTAAATATATGCATATATTTAT GCATTA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(223): Show GATATATATATATCCAAGAGGATATATATATATACACAAGAGGATATATA TATATACACACAAGAGGATATATATATGTACACACAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATCCAAGAGGATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG01884.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0161 a0001c0001t0001g0101 a0001c0001t0001g0161	2	232	0.0086	230	c.-67 others(249): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATACACAA GAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATAT ATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KHSRP_chr19_6408102_6429811	6429025	A A	ATATATAT others(223): Show ATATATATATTATATATATGTTATATATATATATAATATATATATTATAT ATATGTTATATATATATATAATATATATATTATATATATGTTATATATAT ATATAATATATATATTATATATATGTTATATATATATATAATATATATAT TATATATATGTTATATATATATATAATATATATATTATATATATGTTATA TATATATATAATATATATATTATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18960.hp2 NA19085.hp2 NA18947.hp1 NA18960.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012	a0001c0001t0004g0004 a0001c0001t0007g0009 a0001c0001t0012g0069 a0001c0001t0004g0004 a0001c0001t0007g0009 a0001c0001t0012g0069	3	386	0.0078	230	c.-43 others(241): Show c.-4325_-4324insACATATATATAATATATATATTATATATATATAT AACATATATATAATATATATATTATATATATATATAACATATATATAATA TATATATTATATATATATATAACATATATATAATATATATATTATATATA TATATAACATATATATAATATATATATTATATATATATATAACATATATA TAATATATATATTATATATATATATAACATATATATAATATATATA	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4215		chr19	TogoVar
KIAA1958_chr9_112481827_112674397	112514853	G G	GGGGGGGG others(223): Show GGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGTCGGCCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0090 a0001c0001t0008g0090	1	308	0.0033	230	c.-25 others(249): Show c.-25+27742_-25+27743insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGG	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF3B_chr20_32272651_32340011	32322968	A A	ATATTTAT others(223): Show ATATTTATATATATTTATATATATATTTATATTTATATATATATTTATAT TTAATTATATTTATATATATTTATATATATATTTATATTTGTATATATTT ATATATATGTATATTTATATATATTTATATATTTATATATTTATATTTAT ATATATCTATATATTTATATATATTTATATATTTATATTCATATATATTT ATATATTTATATATATTTATATATTTATATT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0081 a0001c0003t0010g0082 a0001c0003t0010g0081 a0001c0003t0010g0082	2	242	0.0083	230	c.174 others(249): Show c.1749-3800_1749-3799insTTATATATATTTATATATATATTTAT ATTTATATATATATTTATATTTAATTATATTTATATATATTTATATATAT ATTTATATTTGTATATATTTATATATATGTATATTTATATATATTTATAT ATTTATATATTTATATTTATATATATCTATATATTTATATATATTTATAT ATTTATATTCATATATATTTATATATTTATATATATTTATATATTTATAT TTAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LMF1_chr16_848634_975984	859578	A A	AGTGGTGT others(223): Show AGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTG GTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGT CACGGGAGGTGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCG GGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGAC GGGTGTGCGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18970.hp2 HG00621.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0256 a0001c0001t0001g0215 a0001c0001t0001g0256	2	294	0.0068	230	c.153 others(249): Show c.1530-4873_1530-4872insGCACACCCGTCCCGAGACACCACGCA CACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACC CGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACACCTC CCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGA GACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACA CCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCGGT others(223): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCA GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCC CGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTT ACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18999.hp2 HG02886.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0003 a0001c0013t0001 a0001c0001t0003 a0001c0013t0001	a0001c0001t0003g0096 a0001c0013t0001g0318 a0001c0001t0003g0096 a0001c0013t0001g0318	2	414	0.0048	230	c.171 others(247): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(223): Show TTCTAGGAGCCATATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCT AGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGTGGACTCTCTAGGA GCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCG TATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATT CGGGACCGCCAGCCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	264	0.0038	230	c.986 others(247): Show c.986+2806_986+2807insGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGA ATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATAC GGCTCCTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCT CCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATATGGCTCCTA GA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(223): Show TTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCT AGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGA GCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCG TATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATT CGGGACCGCCAGCCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20752.hp2 HG03225.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0250 a0001c0001t0002g0175 a0001c0001t0001g0250 a0001c0001t0002g0175	2	264	0.0076	230	c.986 others(247): Show c.986+2806_986+2807insGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGA ATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATAC GGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCT CCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTA GA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210468	G G	GGGACCGC others(223): Show GGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGA CCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGC CAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGC CCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGC ATTCCCGTGGACTCTCTAGGAGCCGTATTCA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	264	0.0038	230	c.986 others(247): Show c.986+2743_986+2744insTGAATACGGCTCCTAGAGAGTCCACGGG AATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATG CGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGG CTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGG CGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGT CC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210573	C C	CGCATTCC others(223): Show CGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCA TTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCC CGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGTG GACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGTGGACT CTCTAGGAGCCATATTCGGGACCGCCAGCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	264	0.0038	230	c.986 others(247): Show c.986+2638_986+2639insAGGCTGGCGGTCCCGAATATGGCTCCTA GAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCTCCTAGAGA GTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCC ACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGG GAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAAT GC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAML3_chr4_139711753_140159184	140019098	T T	TTTTTTTT others(223): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0013 a0001c0011t0002g0013	1	152	0.0066	230	c.469 others(251): Show c.469-128132_469-128131insGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGA CAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(223): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTCGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19030.hp1 NA18972.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0002 a0001c0001t0021 a0001c0002t0002	a0001c0001t0021g0028 a0001c0002t0002g0061 a0001c0001t0021g0028 a0001c0002t0002g0061	2	102	0.0196	230	c.111 others(249): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGTTTTGTCGCCGAGGCTGGAGTGCTGTGGCGCG ATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATC TTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(223): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	102	0.0098	230	c.111 others(249): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGGCGCG ATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATC TTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MBTPS1_chr16_84048763_84121942	84050860	G G	GGTAAGGA others(223): Show GGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCC ACATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGCTA CAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGA AGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGT GGGTAAGGAGAGCGGCAAGGCCCGCATGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	424	0.0024	230	c.35 others(241): Show c.3588_*3589insGCACATGCGGGCCTTGCCGCTCTCCTTACCCACA TGCGGGCCTTGCCGCTCTCCTTACCCACATGCGGGCCTTGCAGCTCTTCT TACCCACATGCGGCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTAG CTCTCCTTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGTGGG CCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTAC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2902		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84050888	G G	GGTAAGGA others(223): Show GGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGCGGCAAGGCC CGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTAAGGAGAGCT GCAAGGCCGCATGTGGGTAAGAAGAGCTGCAAGGCCGCATGTGGGTAAGG AGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGT GGGTAAGGAGAGCTACAAGGCCCGCATGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0360 a0001c0003t0003g0360	1	424	0.0024	230	c.35 others(241): Show c.3560_*3561insGCACATGCGGGCCTTGTAGCTCTCCTTACCCACA TGCGGGCCTTGCCGCTCTCCTTACCCACATGCGGGCCTTGCAGCTCTCCT TACCCACATGCGGCCTTGCAGCTCTTCTTACCCACATGCGGCCTTGCAGC TCTCCTTACGCACATGCGGGCCTTGTAGCTCTCCTTACCCACATGCGGGC CTTGCCGCTCTCCTTACCCACATGTGGGCCTTGCAGCTCTCCTTAC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2874		chr16	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(223): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG00280.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0090 a0001c0001t0001g0064 a0001c0001t0001g0090	2	181	0.0111	230	c.107 others(249): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLC1_chr22_50054391_50090426	50063786	A A	ATGGGCCA others(223): Show ATGGGCCACTCACCTCCCCAGCACCTGCACCGCAGGCCACTCACCTCCCC AGCTGAGCACCCCTGTGGGCCACTCACCTCCCCAGCGCCCCCACCCCACA GGCTTCTCACCTCCCTGGCTGGGCTCCCCCGTGGGCCACTCACCTCCCCA GCGCCCCCACCGCAGGCCACTCACCTCCCCAGCGACCACCCCCACCCCAC AGGCCACTCACCTCCCCGGCTGGGCACCCCG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	212	0.0047	230	c.105 others(247): Show c.1059+247_1059+248insCGGGGTGCCCAGCCGGGGAGGTGAGTGG CCTGTGGGGTGGGGGTGGTCGCTGGGGAGGTGAGTGGCCTGCGGTGGGGG CGCTGGGGAGGTGAGTGGCCCACGGGGGAGCCCAGCCAGGGAGGTGAGAA GCCTGTGGGGTGGGGGCGCTGGGGAGGTGAGTGGCCCACAGGGGTGCTCA GCTGGGGAGGTGAGTGGCCTGCGGTGCAGGTGCTGGGGAGGTGAGTGGCC CA	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	11/11			chr22	TogoVar
MLC1_chr22_50054391_50090426	50063786	A A	ATGGGCCA others(223): Show ATGGGCCACTCACCTCCCCAGCACCTGCACCGCAGGCCACTCACCTCCCC AGCTGGGCACCCCTGTGGGCCACTCACCTCCCCAGCGCCCCCACCCCACA GGCTTCTCACCTCCCTGGCTGGGCTCCCCCGTGGGCCACTCACCTCCCCA GCGCCCCCACCGCAGGCCACTCACCTCCCCAGCGACCACCCCCACCCCAC AGGCCACTCACCTCCCCGGCTGGGCACCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(194): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0007 others(5): Show a0001c0001 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0005t0013 a0001c0007t0001 a0001c0009t0014 a0001c0010t0001 a0003c0003t0001 a0004c0004t0004 a0005c0006t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(172): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0003g0004 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0004g0056 a0001c0001t0004g0174 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0183 a0001c0001t0004g0187 a0001c0001t0005g0002 a0001c0001t0005g0005 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0006g0015 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0118 a0001c0001t0008g0029 a0001c0001t0008g0049 a0001c0001t0008g0055 a0001c0001t0008g0061 a0001c0001t0009g0011 a0001c0001t0009g0078 a0001c0001t0009g0088 a0001c0001t0010g0014 a0001c0001t0011g0030 a0001c0001t0011g0081 a0001c0001t0012g0108 a0001c0001t0012g0116 a0001c0001t0013g0089 a0001c0001t0015g0020 a0001c0001t0016g0107 a0001c0001t0017g0109 a0001c0001t0018g0082 a0001c0001t0019g0091 a0001c0001t0020g0021 a0001c0001t0023g0098 a0001c0001t0024g0146 a0001c0001t0025g0190 a0001c0005t0013g0064 a0001c0007t0001g0054 a0001c0009t0014g0105 a0001c0010t0001g0135 a0003c0003t0001g0066 a0003c0003t0001g0068 a0004c0004t0004g0164 a0005c0006t0002g0157	197	212	0.9293	230	c.105 others(247): Show c.1059+247_1059+248insCGGGGTGCCCAGCCGGGGAGGTGAGTGG CCTGTGGGGTGGGGGTGGTCGCTGGGGAGGTGAGTGGCCTGCGGTGGGGG CGCTGGGGAGGTGAGTGGCCCACGGGGGAGCCCAGCCAGGGAGGTGAGAA GCCTGTGGGGTGGGGGCGCTGGGGAGGTGAGTGGCCCACAGGGGTGCCCA GCTGGGGAGGTGAGTGGCCTGCGGTGCAGGTGCTGGGGAGGTGAGTGGCC CA	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	11/11			chr22	TogoVar
MPG_chr16_73225_90846	82196	C C	CACACTGA others(223): Show CACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCC TCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA TCTCCGGGAAGCCCTCCTGAATACTCCCCCG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	442	0.0023	230	c.301 others(245): Show c.301-856_301-855insACACTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACC CCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATACTCCCCCG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3			chr16	TogoVar
MPG_chr16_73225_90846	82196	C C	CACGCTGG others(223): Show CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCC TCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCAG GAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA TCTCCGGGAAGGCCTCCTGAATGCTCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02698.hp2 HG00140.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0135 a0001c0001t0001g0150	2	442	0.0045	230	c.301 others(245): Show c.301-856_301-855insACGCTGGCCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGGCCCCTTCTT CCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACC CCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCCG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3			chr16	TogoVar
MPG_chr16_73225_90846	82225	T T	TCTCCGGG others(223): Show TCTCCGGGAAGCCCTCCTGAATACTCCCCCGGCGCTGACCCCTTCTTCCC ACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCT GACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCC CCGCGCTGACCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	442	0.0023	230	c.301 others(245): Show c.301-806_301-805insACTCCCCCGGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAAT	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(223): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCT CCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGG AAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCA CCACCCTACCTCCGGGAAGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02738.hp1 HG03704.hp2 HG02698.hp1 HG02738.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182	3	442	0.0068	230	c.301 others(245): Show c.301-799_301-798insACACTGACCCCTTCTTCCCACCACCCTATC TCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCA CCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTT CCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPPED1_chr22_43407014_43512848	43432874	A A	AGAGAAAG others(223): Show AGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGATGAGATAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATGAGATAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	250	0.0040	230	c.225 others(247): Show c.225-2157_225-2156insAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATGA GATAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGATGAGATAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH1_chr8_144143016_144266926	144262844	A A	ACCCCTCA others(223): Show ACCCCTCACCTGCAGGGTGCACCGCCCCCCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACCGCCCCCCCCA CCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCACCCCTCACCTGCAGG GTACACCGCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCCCCC CACCCCTCACCTGCAGGGTGCACTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0051 a0009c0009t0001g0051	1	140	0.0071	230	c.11 others(241): Show c.1104_*1105insCCCCTCACCTGCAGGGTGCACCGCCCCCCCCCAC CCCTCACCTGCAGGGTACACCGCCCCCCCCCCACCCCTCACCTGCAGGGT GCACCGCCCCCCCCACCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCA CCCCTCACCTGCAGGGTACACCGCCCCCCCCCACCCCTCACCTGCAGGGT ACACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACTGCCCCCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding		919		chr8	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(223): Show TGTATATATATATATGTATATATATATGTATATATATGTATATATATATG TATATATATATGTATATATATATGTATATATATATGTATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATGTGTATA TATATGTATATATATATATGTATATATATGTATATATATATGTATATATA TGTATATATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0088 a0002c0003t0001g0088	1	410	0.0024	230	c.484 others(245): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATACATATATATACATATATATATATACATAT ATATACACATATATATACATATATATATACATATATATATACATATATAT ATACATATATATATACATATATATATACATATATATATACATATATATAT ACATATATATATACATATATATACATATATATATACATATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MTTP_chr4_99569824_99628997	99588843	A A	ATATATAT others(223): Show ATATATATGTTCACATATATACTCATATATATATGTTCACATATATACTC ATATATATATGTTCACATATATATTCATATATATATGTTCACATATATAT TCATATATATATGTTCACATATATATTCATATATATATGTTCACATATAT ATTCATATATATATGTTCACATATATATTCATATATATATGTTCACATAT ATATTCATATATATATGTTCACATATATATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0311 a0007c0007t0003g0311	1	364	0.0028	230	c.394 others(245): Show c.394-800_394-799insTATATATGTTCACATATATACTCATATATA TATGTTCACATATATACTCATATATATATGTTCACATATATATTCATATA TATATGTTCACATATATATTCATATATATATGTTCACATATATATTCATA TATATATGTTCACATATATATTCATATATATATGTTCACATATATATTCA TATATATATGTTCACATATATATTCATATATATATGTTCACATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99588843	A A	ATATATAT others(223): Show ATATATATGTTCACATATATACTCATATATATATGTTCACATATATATTC ATATATATATGTTCACATATATATTCATATATATATGTTCACATATATAT TCATATATATATGTTCACATATATATTCATATATATATGTTCACATATAT ATTCATATATATATGTTCACATATATATTCATATATATATGTTCACATAT ATATTCATATATATATGTTCACATATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02300.hp2 HG00639.hp2 HG02300.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0312 a0007c0007t0003g0317 a0007c0007t0003g0312 a0007c0007t0003g0317	2	364	0.0055	230	c.394 others(245): Show c.394-800_394-799insTATATATGTTCACATATATACTCATATATA TATGTTCACATATATATTCATATATATATGTTCACATATATATTCATATA TATATGTTCACATATATATTCATATATATATGTTCACATATATATTCATA TATATATGTTCACATATATATTCATATATATATGTTCACATATATATTCA TATATATATGTTCACATATATATTCATATATATATGTTCACATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99588899	A A	ATATATAT others(223): Show ATATATATATGTTCACATATATATTCATATATATATGTTCACATATATAT TCATATATATATGTTCACATATATATTCATATATATATGTTCACATATAT ATTCATATATATATGTTCACATATATATTCATATATATATGTTCACATAT ATATTCATATATATATGTTCACATATATATTCATATATATATGTTCACAT ATATATTCATATATATGTTCACATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0315 a0007c0007t0003g0315	1	364	0.0028	230	c.394 others(245): Show c.394-744_394-743insTATATATATGTTCACATATATATTCATATA TATATGTTCACATATATATTCATATATATATGTTCACATATATATTCATA TATATATGTTCACATATATATTCATATATATATGTTCACATATATATTCA TATATATATGTTCACATATATATTCATATATATATGTTCACATATATATT CATATATATATGTTCACATATATATTCATATATATGTTCACATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99588927	A A	ATATATAT others(223): Show ATATATATATGTTCACATATATATTCATATATATATGTTCACATATATAT TCATATATATATGTTCACATATATATTCATATATATATGTTCACATATAT ATTCATATATATATGTTCACATATATATTCATATATATATGTTCACATAT ATATTCATATATATATGTTCACATATATATTCATATATATATGTTCACAT ATATATTCATATATATGTTCACATATATATT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0314 a0007c0007t0003g0314	1	364	0.0028	230	c.394 others(245): Show c.394-716_394-715insTATATATATGTTCACATATATATTCATATA TATATGTTCACATATATATTCATATATATATGTTCACATATATATTCATA TATATATGTTCACATATATATTCATATATATATGTTCACATATATATTCA TATATATATGTTCACATATATATTCATATATATATGTTCACATATATATT CATATATATATGTTCACATATATATTCATATATATGTTCACATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MYRIP_chr3_39804609_40265321	40203882	T T	TAAATATT others(223): Show TAAATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAATAT ATAATTTATATAATTTATAAATTATATAATTTATATATTATATATAATAT GTTTATATTAAATATTATATATTATATATTTATATTAAATATTATATATT TATATATTATATATAATATATTTATATTAAATATTATATATTTATATATT ATATATATATTAAATATTATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03688.hp2 HG02683.hp2 HG03688.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0010 a0005c0013t0010	a0005c0013t0010g0078 a0005c0013t0010g0133 a0005c0013t0010g0078 a0005c0013t0010g0133	2	170	0.0118	230	c.166 others(249): Show c.1666-5972_1666-5971insAAATATTTATATTTTATATATTTATA TATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATAT AATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATAT ATTTATATTAAATATTATATATTTATATATTATATATAATATATTTATAT TAAATATTATATATTTATATATTATATATATATTAAATATTATATATTTA TATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16			chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175670512	A A	AATGTAAA others(223): Show AATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAA TATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTA AATTTATATTAAATGTAAATTTAATATATTTATATTAAATGTAAATTTAA TATATTTATATTAAATGTAAAATTAATATATTTATATTAAATGTAAAATT AATATATTTATATTAAATGTAAAATTAATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 HG02809.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0022 a0001c0013t0013 a0001c0001t0022 a0001c0013t0013	a0001c0001t0022g0002 a0001c0013t0013g0018 a0001c0001t0022g0002 a0001c0013t0013g0018	2	64	0.0313	230	c.189 others(251): Show c.1896+43128_1896+43129insGTAAATTTAATATATTTATATTAA ATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAAT GTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATAT ATTTATATTAAATGTAAATTTAATATATTTATATTAAATGTAAAATTAAT ATATTTATATTAAATGTAAAATTAATATATTTATATTAAATGTAAAATTA ATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158668101	C C	CCTTACCC others(223): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCTACCCTGTGGCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCAC CCTCTTACCCACTACTGGGTCCCTCCACCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	378	0.0027	230	c.148 others(249): Show c.1480-3352_1480-3351insAGGGTGGAGGGACCCAGTAGTGGGTA AGAGGGTGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGA CCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGG GCGGAGGGCCACAGGGTAGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGG TAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCGGT others(223): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCA GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCC CGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTT ACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 NA18999.hp2 HG02886.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0213 a0001c0001t0002g0005 a0001c0001t0002g0213	2	384	0.0052	230	c.-41 others(241): Show c.-4100_-4099insCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGC TCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NDUFV3_chr21_42888309_42918299	42894351	A A	AAATATAT others(223): Show AAATATATATATATAATATATATTATATATAATATATAATATATATTATA TATAAATATATAATATATATAATATATATTATATATAATATATAATATAT ATAATATATATAATATATAATATATAATATATATAATATATATTATAATA TATAATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATATTATATATAAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA20805.hp2 HG01123.hp1 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0034 a0003c0004t0035 a0003c0004t0034 a0003c0004t0035	a0003c0004t0034g0219 a0003c0004t0035g0218 a0003c0004t0034g0219 a0003c0004t0035g0218	2	348	0.0058	230	c.48+ others(243): Show c.48+979_48+980insATATAATATATATTATATATAATATATAATAT ATATTATATATAAATATATAATATATATAATATATATTATATATAATATA TAATATATATAATATATATAATATATAATATATAATATATATAATATATA TTATAATATATAATATATATAATATATAATATATATTATATATAAATATA TAATATATAATATATATTATATATAAATATATAATATATAATATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU4_chr2_241804193_241822413	241805386	G G	GACCTCCG others(223): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0002 a0001c0006t0001g0002	1	319	0.0031	230	c.-38 others(241): Show c.-3892_-3891insACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3806		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806324	A A	ACCTCTGC others(223): Show ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAACCCAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	230	c.-29 others(241): Show c.-2954_-2953insCCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGAGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGAG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2868		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807934	C C	CTCCCCCC others(223): Show CTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0037 a0001c0005t0001g0037	2	319	0.0063	230	c.-13 others(241): Show c.-1344_-1343insTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1258		chr2	TogoVar
NEXN_chr1_77883624_77948895	77888008	C C	CTTCTTCT others(223): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	268	0.0037	230	c.-80 others(239): Show c.-804_-803insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		615		chr1	TogoVar
NFILZ_chr19_8625633_8686151	8656480	C C	CTGAAGCC others(223): Show CTGAAGCCCACCTTCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTC CTCCCGCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACC TCTTCCCTGAAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCC ACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCCGCAGC CCACCTTCTCCCTGAAGCCCACCTTCTCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG01884.hp2 HG02630.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0058 a0004c0004t0056 a0001c0001t0058 a0004c0004t0056	a0001c0001t0058g0122 a0004c0004t0056g0123 a0001c0001t0058g0122 a0004c0004t0056g0123	2	366	0.0055	230	c.-16 others(251): Show c.-163-18071_-163-18070insTGAAGCCCACCTTCTCCCTGAAGC CCACCTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGA AGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCC TGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTT TCCGCAGCCCACCTTCTCCCGCAGCCCACCTTCTCCCTGAAGCCCACCTT CTCCCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5			chr19	TogoVar

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