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
HIVEP2_chr6_142746469_142950176	142862422	A A	ATGTATCA others(178): Show ATGTATCATATATTTTATAATACATATAATCGATTATGTGTATCATATAT TTTATAATACATATAATCGATTATGTGTATCATATATTTTATAATACATA TAATCGATTATGTGTATCATATATTTTATAATACATATAATCGATTATGT GTATCATATATTTTATAATACATATAATCGATTATG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	288	0.0035	185	c.-64 others(206): Show c.-640-25376_-640-25375insCATAATCGATTATATGTATTATAA AATATATGATACACATAATCGATTATATGTATTATAAAATATATGATACA CATAATCGATTATATGTATTATAAAATATATGATACACATAATCGATTAT ATGTATTATAAAATATATGATACACATAATCGATTATATGTATTATAAAA TATATGATACA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	1/9			chr6	TogoVar
HSD17B14_chr19_48808018_48841491	48834719	G G	GACTCCTG others(178): Show GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGGGCCTGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0359 a0002c0002t0001g0359	1	394	0.0025	185	c.128 others(200): Show c.128-362_128-361insGCAGGCCCCCAGCCCTTCCTCCCTCAGACC CAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC TCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCA GGAGT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IFITM10_chr11_1727406_1755595	1754525	G G	GGGGATGT others(178): Show GGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGA GGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATGGA GGGATGGAGGGGATGGAGGGATGGAGGGATAGACAGATGGAGGGGATGGA GGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG02683.hp1 HG00741.hp1 HG01081.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0004 a0001c0001t0025	a0001c0001t0004g0045 a0001c0001t0025g0155 a0001c0001t0004g0045 a0001c0001t0025g0155	3	406	0.0074	185	c.-40 others(196): Show c.-4084_-4083insTCCATCCCCACATCCCTCTGTGACTCTCCATGAC CCTCCATCCCCTCCATCTGTCTATCCCTCCATCCCTCCATCCCCTCCATC CCTCCATCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCC CCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCACATCC C	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3931		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33321516	T T	TGCGTGGA others(178): Show TGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACAT ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGT GGAACATACATGCGTGGAACCAATACATATGTGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 NA19030.hp2 HG02896.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0137 a0001c0001t0012g0138 a0001c0001t0012g0137 a0001c0001t0012g0138	2	323	0.0062	185	c.-35 others(196): Show c.-3540_-3539insGCGTGGAACCAATACATATGTGGAACATACATGC GTGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGG AACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGA A	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3453		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322776	A A	ATGGAATA others(178): Show ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTA TGGAATATATATATGGAATATATACGTATGGAATATATATATATGGAATA TATACGTATGGAATATATATATATGGAATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0196 a0002c0002t0024g0196	1	323	0.0031	185	c.-22 others(196): Show c.-2280_-2279insTGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATA TGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATA TATATATATGGAATATATACGTATGGAATATATATATATGGAATATATAC G	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2193		chr21	TogoVar
IGLON5_chr19_51306644_51335891	51310594	A A	ACCTGGAC others(178): Show ACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTA GGTCTGAGGGAGGAGGAACTGGGGACCTGGACTCCTGGGCCTGAGGGAGG AGGGGCTGGGGACCTGGACTCCTGGCTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	418	0.0024	185	c.-12 others(196): Show c.-1254_-1253insCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GGGCCTGGACTCCTAGGTCTGAGGGAGGAGGAACTGGGGACCTGGACTCC TGGGCCTGAGGGAGGAGGGGCTGGGGACCTGGACTCCTGGCTCTGAGGGA GGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGG G	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		1049		chr19	TogoVar
IGLON5_chr19_51306644_51335891	51310803	G G	GGAGGGGC others(178): Show GGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTGGGTCTGAGGGACGAGGGGCTGGGGGCCTGGGCTCCAG GGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0263 a0001c0001t0021g0263	1	418	0.0024	185	c.-10 others(196): Show c.-1045_-1044insGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGACGAGGGGCTGG GGGCCTGGGCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGA C	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		840		chr19	TogoVar
IGLON5_chr19_51306644_51335891	51310975	A A	AGGGTCTG others(178): Show AGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGGCTCCAG GGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	418	0.0024	185	c.-87 others(194): Show c.-873_-872insGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGGCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		668		chr19	TogoVar
IL11_chr19_55359382_55375463	55375268	C C	CAGCCCCT others(178): Show CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGGCCCCAGCCCCTCCTCC CTCAGACCCAGGAGTCCAGGCTCCAGCCCCTTCTCCCTCAGACCCAGGAG TCTGGGAACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCC AGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	352	0.0028	185	c.-49 others(196): Show c.-4959_-4958insAGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTTCCCA GACTCCTGGGTCTGAGGGAGAAGGGGCTGGAGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGCCCTGGACTCCTGGGTCTGAGGGAGGAGGGGC T	IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding		4806		chr19	TogoVar
INPP5A_chr10_132532787_132788480	132573987	A A	ACGTGCCG others(178): Show ACGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGA GGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGA TGTTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGC GTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0144 a0001c0007t0008g0144	1	204	0.0049	185	c.76- others(202): Show c.76-33892_76-33891insGCGTGCCGTGGGAGGTTTTGTTGAGATG TTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGT GCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGAGGTT TTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGATGTT GGGGTGT	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132574024	A A	ACGTGCCG others(178): Show ACGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGA GGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGA TGTTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGC GTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG01099.hp1 others(29): Show HG00544.hp2 HG00735.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01928.hp2 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02559.hp1 HG02683.hp2 HG02698.hp1 HG02895.hp2 HG02896.hp2 HG03209.hp2 HG03654.hp2 HG03927.hp1 HG06807.hp1 NA18952.hp2 NA18962.hp2 NA18969.hp2 NA18990.hp1 NA19010.hp2 NA19087.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0004t0012 a0001c0004t0021 a0001c0011t0001 a0002c0002t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(29): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0002g0003 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0003t0001g0145 a0001c0004t0012g0166 a0001c0004t0021g0146 a0001c0011t0001g0172 a0002c0002t0001g0158	32	204	0.1569	185	c.76- others(202): Show c.76-33790_76-33606dupGTTGGGGTGTGCGTGCCGTGGGAGGTTT TGTTGAGATGTTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGATGTTG GGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCC GTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGAGGTTTTG TTGAGAT	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP2_chr5_147580438_147787728	147690472	C C	CTAATTTT others(178): Show CTAATTTTGATTAGTTTTGATTAATATTTGTTCTCCCACCCTCTCCATTG TGCACAGATGAAATGTTATTGTTACTATTAACCTTCTCACCTCCTCCACG GTACACAGACTGGGGAATGCTATTAATAGTTTCCCCCCATCCCCCACCCA GCTCCTTCTGTTACTGTGAAGTAATTTGGATGAACT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0080 a0001c0002t0054g0080	1	250	0.0040	185	c.-14 others(206): Show c.-148-18519_-148-18518insAGTTCATCCAAATTACTTCACAGT AACAGAAGGAGCTGGGTGGGGGATGGGGGGAAACTATTAATAGCATTCCC CAGTCTGTGTACCGTGGAGGAGGTGAGAAGGTTAATAGTAACAATAACAT TTCATCTGTGCACAATGGAGAGGGTGGGAGAACAAATATTAATCAAAACT AATCAAAATTA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JPH2_chr20_44101590_44192188	44134139	A A	AATAAATA others(178): Show AATAAATATTTATTATAAATATATAAATATTATAAATATATAAATATTTA TTATAAATATATAAATATTTATTATAAATATATAAATATTTATTATAAAT ATATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAAT ATTTATTATAAATATATAAATATTTATTATAAATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19063.hp1 NA19088.hp1 NA19000.hp2 NA19063.hp1 NA19088.hp1	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0014 a0001c0011t0016 a0001c0004t0014 a0001c0011t0016	a0001c0004t0014g0232 a0001c0004t0014g0240 a0001c0011t0016g0100 a0001c0004t0014g0232 a0001c0004t0014g0240 a0001c0011t0016g0100	3	338	0.0089	185	c.117 others(206): Show c.1170-15517_1170-15516insATATTTATAATAAATATTTATATA TTTATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAAT AAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATATTT ATATATTTATAATAAATATTTATATATTTATAATATTTATATATTTATAA TAAATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134139	A A	AATAAATA others(178): Show AATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAATA TTATAAATATATAAATATTTATTATAAATATATAAATATTTATTATAAAT ATATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAAT ATTTATTATAAATATATAAATATTTATTATAAATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG06807.hp2 NA18999.hp2 HG03209.hp1 HG06807.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0008 a0001c0001t0003 a0001c0004t0008	a0001c0001t0003g0085 a0001c0004t0008g0088 a0001c0004t0008g0089 a0001c0001t0003g0085 a0001c0004t0008g0088 a0001c0004t0008g0089	3	338	0.0089	185	c.117 others(206): Show c.1170-15517_1170-15516insATATTTATAATAAATATTTATATA TTTATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAAT AAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATATTT ATATATTTATAATATTTATATATTTATAATAAATATTTATATATTTATAA TAAATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KIAA0232_chr4_6777727_6889164	6879948	G G	GCCCCCCT others(178): Show GCCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACA CAGGTCTGTAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCC TTCCCAACACACAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCAC TGCAAACTCCCTTCCCAACACACCCGTCTGCAGTGC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18981.hp2 NA18983.hp1 others(4): Show NA18747.hp2 NA18981.hp2 NA18983.hp1 NA18991.hp1 NA18998.hp2 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0290 a0001c0001t0001g0294 others(4): Show a0001c0001t0001g0253 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0328	7	362	0.0193	185	c.400 others(202): Show c.4009-834_4009-833insCTCACCATCTGTACTGTGTCACTGCAAA CTCCCTTCCCAACACACAGGTCTGTAGTGTCCCCTCACCATCTGTACTGT GTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCCTCACC ATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCGTCTGCAGT GCCCCCC	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0232_chr4_6777727_6889164	6880328	T T	TGTACTGT others(178): Show TGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTC CCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGG TCTGCAGTGTCCCTCCACCATCTGTACTGTGTCACTGCAAAACTCCCTTC CCAACACACCCGTCTGCAGTGCCCCCCTCACCATCG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	362	0.0028	185	c.400 others(202): Show c.4009-425_4009-424insGAGGTCTGCAGTGTCCCCTCACCATCTG TACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCC TCCACCATCTGTACTGTGTCACTGCAAAACTCCCTTCCCAACACACCCGT CTGCAGTGCCCCCCTCACCATCGGTACTGTGTCACTGCAAACTCCCTTCC CAACACA	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0825_chr5_94145851_94623604	94608454	T T	TGTGTGTG others(178): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATTATATATATAT ATTATATATATATATATTATATATATAATATATATATTATATATATAAAA AATATATATATATAATATATATTATATATATAATATATATTTTATATATA ATATATATATAATTATATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0005 a0002c0016t0005	a0002c0016t0005g0006 a0002c0016t0005g0006	1	54	0.0185	185	c.-15 others(206): Show c.-153+10045_-153+10046insTATATATATAATATATATATATAA TTATATATATATTATATATAAAATATATATTATATATATAATATATATTA TATATATATATTTTTTATATATATAATATATATATTATATATATAATATA TATATATATAATATATATATATAATATATATATATACACACACACACACA CACACACACAC	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KNDC1_chr10_133155219_133231412	133155732	C C	CACTGTGG others(178): Show CACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAACTGTGGGATAT TGACGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGATGTCATTGGA AAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAA CTGTGGAGTATTGACATCATTGGAAAGAGAACCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0005 a0005	a0005c0052 a0005c0052	a0005c0052t0002 a0005c0052t0002	a0005c0052t0002g0173 a0005c0052t0002g0173	1	332	0.0030	185	c.-47 others(196): Show c.-4736_-4735insACTGTGGAGTATTGACGTCATTGGAAAGAGAACC TCAACTGTGGGATATTGACGTCATTGGAAAGAGAACCTCAACTGTGGAGT ATTGATGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTG GAAAGAGAACCTCAACTGTGGAGTATTGACATCATTGGAAAGAGAACCTC A	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4486		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133155732	C C	CACTGTGG others(178): Show CACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAACTGTGGGGTAT TGACGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGATGTCATTGGA AAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAA CTGTGGAGTATTGACATCATTGGAAAGAGAACCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(104): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03688.hp2 HG03704.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18987.hp2 NA18995.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0023 a0025 a0028 a0031 a0033 a0034 a0035 a0037 a0039	a0001c0001 a0001c0004 a0001c0059 others(23): Show a0001c0001 a0001c0004 a0001c0059 a0001c0062 a0002c0002 a0002c0005 a0003c0010 a0003c0015 a0003c0016 a0004c0013 a0004c0027 a0005c0011 a0006c0009 a0007c0008 a0008c0012 a0009c0017 a0012c0049 a0023c0047 a0025c0060 a0028c0067 a0031c0064 a0033c0080 a0034c0061 a0035c0065 a0037c0048 a0039c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0004t0001 a0001c0004t0002 a0001c0059t0001 a0001c0062t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0002 a0003c0010t0001 a0003c0015t0001 a0003c0015t0002 a0003c0016t0006 a0004c0013t0002 a0004c0027t0002 a0005c0011t0002 a0006c0009t0001 a0007c0008t0001 a0007c0008t0002 a0008c0012t0002 a0009c0017t0016 a0012c0049t0006 a0023c0047t0001 a0025c0060t0002 a0028c0067t0002 a0031c0064t0002 a0033c0080t0002 a0034c0061t0001 a0035c0065t0002 a0037c0048t0001 a0039c0058t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0129 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0001t0002g0247 a0001c0001t0019g0203 a0001c0004t0001g0162 a0001c0004t0001g0222 a0001c0004t0002g0211 a0001c0059t0001g0194 a0001c0062t0001g0208 a0002c0002t0001g0239 a0002c0002t0002g0008 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0214 a0002c0005t0002g0226 a0003c0010t0001g0248 a0003c0010t0001g0249 a0003c0015t0001g0236 a0003c0015t0002g0237 a0003c0015t0002g0238 a0003c0016t0006g0225 a0004c0013t0002g0179 a0004c0027t0002g0134 a0005c0011t0002g0251 a0005c0011t0002g0254 a0006c0009t0001g0240 a0007c0008t0001g0130 a0007c0008t0001g0132 a0007c0008t0001g0133 a0007c0008t0002g0131 a0008c0012t0002g0229 a0008c0012t0002g0230 a0008c0012t0002g0231 a0008c0012t0002g0232 a0008c0012t0002g0233 a0008c0012t0002g0234 a0008c0012t0002g0235 a0009c0017t0016g0253 a0012c0049t0006g0244 a0023c0047t0001g0318 a0025c0060t0002g0241 a0028c0067t0002g0008 a0031c0064t0002g0216 a0033c0080t0002g0170 a0034c0061t0001g0191 a0035c0065t0002g0218 a0037c0048t0001g0165 a0039c0058t0001g0186	107	332	0.3223	185	c.-47 others(196): Show c.-4736_-4735insACTGTGGAGTATTGACGTCATTGGAAAGAGAACC TCAACTGTGGGGTATTGACGTCATTGGAAAGAGAACCTCAACTGTGGAGT ATTGATGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTG GAAAGAGAACCTCAACTGTGGAGTATTGACATCATTGGAAAGAGAACCTC A	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4486		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133155732	C C	CACTGTGG others(178): Show CACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAACTGTGGGGTAT TGACGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGATGTCATTGGA AAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAA CTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02922.hp2 others(1): Show HG02895.hp2 HG02896.hp2 HG02922.hp2 NA20129.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0024 a0001c0001 a0011c0024	a0001c0001t0007 a0001c0001t0023 a0011c0024t0002 a0001c0001t0007 a0001c0001t0023 a0011c0024t0002	a0001c0001t0007g0006 a0001c0001t0023g0006 a0011c0024t0002g0242 others(1): Show a0001c0001t0007g0006 a0001c0001t0023g0006 a0011c0024t0002g0242 a0011c0024t0002g0243	4	332	0.0121	185	c.-47 others(196): Show c.-4736_-4735insACTGTGGAGTATTGACGTCATTGGAAAGAGAACC TCAACTGTGGGGTATTGACGTCATTGGAAAGAGAACCTCAACTGTGGAGT ATTGATGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTG GAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTC A	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4486		chr10	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051118	T T	TTATATAT others(178): Show TTATATATATTATATATAGTAAAATATATATAATATATTATATATAGTAA AATATATAATATATTATATATATAGTAAAATATATATAATATATTATATA TATAGTAAAATATATATAATATATTATATATATAGTAAAATATATATAAT ATATTATATATATAGTAAAATATATATAATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA18906.hp1 HG06807.hp2 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	2	407	0.0049	185	c.-38 others(196): Show c.-3852_-3851insTAATATATTATATATATTTTACTATATATATAAT ATATTATATATATTTTACTATATATATAATATATTATATATATTTTACTA TATATATAATATATTATATATATTTTACTATATATATAATATATTATATA TTTTACTATATATAATATATTATATATATTTTACTATATATAATATATAT A	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding		3803		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051118	T T	TTATATAT others(178): Show TTATATATATTATATATAGTAAAATATATATAATATATTATATATAGTAA AATATATAATATATTATATATATAGTAAAATATATATAATATATTATATA TATAGTAAAATATATATAATATATTATATATATAGTAAAATATATATAAT ATATTATATATATAGTAAAATATATATAATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0000 a0003c0006t0003g0000	1	411	0.0024	185	c.37 others(196): Show c.3721_*3722insTAATATATTATATATATTTTACTATATATATAAT ATATTATATATATTTTACTATATATATAATATATTATATATATTTTACTA TATATATAATATATTATATATATTTTACTATATATATAATATATTATATA TTTTACTATATATAATATATTATATATATTTTACTATATATAATATATAT A	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3379		chr17	TogoVar
KYAT1_chr9_128827942_128886950	128865359	A A	ACATATAT others(178): Show ACATATATATATATATACATACATATATATATATACATACATATATATAT ATACACATACATATATATATATATACATATATACATACATATATATATAT ACACATACATATATATATATATACACATACATATATATATATATATACAT ACATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	326	0.0031	185	c.-7+ others(202): Show c.-7+16537_-7+16538insAAAAAAAAATATATATATATATATATAT ATATATGTATGTATATATATATATATATGTATGTGTATATATATATATAT GTATGTGTATATATATATATGTATGTATATATGTATATATATATATATGT ATGTGTATATATATATATGTATGTATATATATATATGTATGTATATATAT ATATATG	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(178): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCCCA CACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACAC CACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGT CCTCCTCACACACCACACAGCCCACACCCCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0255 a0001c0003t0002g0255	1	308	0.0033	185	c.66 others(196): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACC CCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACAC AGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTC A	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LIN28B_chr6_104952107_105088332	105023528	T T	TTATATAT others(178): Show TTATATATAATATATATAATTATATTATATATAATATATATAATTATATT ATATATATATTATATAATATATATAATATATATAAAATATATATAATATA TAACCTATATATATTATATATTATATATAATATATATTATATATTTTATA TATTTTATATATATAATATATATTATATATTTTATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp2 HG02615.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0122 a0001c0001t0009g0227 a0001c0001t0002g0122 a0001c0001t0009g0227	2	278	0.0072	185	c.199 others(202): Show c.199-2764_199-2763insTAATATATATAATTATATTATATATAAT ATATATAATTATATTATATATATATTATATAATATATATAATATATATAA AATATATATAATATATAACCTATATATATTATATATTATATATAATATAT ATTATATATTTTATATATTTTATATATATAATATATATTATATATTTTAT ATATATA	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LMF1_chr16_848634_975984	857915	C C	CAGTGGTG others(178): Show CAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCACGGGATGGGTGTGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	294	0.0034	185	c.153 others(204): Show c.1530-3210_1530-3209insTCACACCCATCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCGTC CCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGA GACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857915	C C	CAGTGGTG others(178): Show CAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	294	0.0034	185	c.153 others(204): Show c.1530-3210_1530-3209insTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCGTC CCGAGACACCACGCACACCCGTCCCGAGACACCACTCACACCCATCCCGA GACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857915	C C	CAGTGGTG others(178): Show CAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	294	0.0034	185	c.153 others(204): Show c.1530-3210_1530-3209insTCACACCCATCCCGTGACACCACTCA CACCCATCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCATC CCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGA GACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857915	C C	CAGTGGTG others(178): Show CAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01517.hp1 HG00099.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	294	0.0068	185	c.153 others(204): Show c.1530-3210_1530-3209insTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCGTC CCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCATCCCGA GACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857984	C C	CGTGGTGT others(178): Show CGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGCGTGGTGTCACGGGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18947.hp1 HG03669.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0093 a0001c0008t0001g0069 a0001c0002t0001g0093 a0001c0008t0001g0069	2	294	0.0068	185	c.153 others(204): Show c.1530-3279_1530-3278insTGCACACCCATCCCGTGACACCACGC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858016	T T	TCGGGATG others(178): Show TCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCG GGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGAT GGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0186 a0001c0003t0001g0186	1	294	0.0034	185	c.153 others(204): Show c.1530-3311_1530-3310insTGACACCACGCACACCCATCCCGAGA CACCACTCACACCCATCCCGTGACACCACGCACACCCATCCCGAGACACC ACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACTC ACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACA CCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858178	A A	ACGGGATG others(178): Show ACGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCGTGGTGTCTCGG GATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTG TGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0220 a0001c0012t0001g0220	1	294	0.0034	185	c.153 others(204): Show c.1530-3473_1530-3472insAGACACCACTCACACCCATCCCGAGA CACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACG CACACCCATCCCGAGACACCACGCACACCCATCCCGTGACACCACGCACA CCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858178	A A	ACGGGATG others(178): Show ACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGG GATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTG TGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	294	0.0034	185	c.153 others(204): Show c.1530-3473_1530-3472insAGACACCACTCACACCCATCCCGAGA CACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACG CACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACGCACA CCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858224	A A	ACGGGATG others(178): Show ACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA20805.hp1 HG03688.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0263 a0001c0001t0001g0104 a0001c0001t0001g0263	2	294	0.0068	185	c.153 others(204): Show c.1530-3519_1530-3518insAGACACCACTCACACCCATCCCGAGA CACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACT CACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACGCACA CCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858224	A A	ACGGGATG others(178): Show ACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	294	0.0034	185	c.153 others(204): Show c.1530-3519_1530-3518insAGACACCACTCACACCCATCCCGAGA CACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACT CACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACGCACA CCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858224	A A	ACGGGATG others(178): Show ACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	294	0.0034	185	c.153 others(204): Show c.1530-3519_1530-3518insAGACACCACTCACACCCATCCCGAGA CACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACC ACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACT CACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACGCACA CCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858238	A A	AGTGGTGT others(178): Show AGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCAC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03209.hp2 NA18983.hp1 HG00423.hp2 HG03209.hp2 NA18983.hp1	a0002 a0004 a0002 a0004	a0002c0007 a0002c0055 a0004c0026 a0002c0007 a0002c0055 a0004c0026	a0002c0007t0001 a0002c0055t0001 a0004c0026t0001 a0002c0007t0001 a0002c0055t0001 a0004c0026t0001	a0002c0007t0001g0182 a0002c0055t0001g0206 a0004c0026t0001g0127 a0002c0007t0001g0182 a0002c0055t0001g0206 a0004c0026t0001g0127	3	294	0.0102	185	c.153 others(204): Show c.1530-3533_1530-3532insGCACACCCATCCCGAGACACCACTCA CACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCAT CCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCG AGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859218	G G	GTGTGAGT others(178): Show GTGTGAGTGATGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTG TGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGCAGTGGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGACTGGTGTCTCGGGACGGT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0002 a0003c0009t0001g0003	2	294	0.0068	185	c.153 others(204): Show c.1530-4513_1530-4512insACCGTCCCGAGACACCAGTCACACCC GTCCCGAGACACCACTGCACACCCGTCCCGAGACCACTGCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTG ACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACA TCACTCACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(178): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0178 a0001c0021t0001g0178	1	414	0.0024	185	c.171 others(202): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMX1B_chr9_126608928_126706032	126660019	C C	CTGTGTGG others(178): Show CTGTGTGGGGGGCATCTACACTGGCCTTAGAGATTGTCCTGTGTGAGGGT GTCTACAATGGCCTTAGAGATTGTTCCATGTGGGGGTGTACACTGGCTTC AGAGGTTGTCCTGTGTGGGGGTGTCTACACTGCCCTTAGAGATTGTCTTG TGTGGGGGGTATCTACACTGGCTTCAGAGATTGTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00639.hp1 others(77): Show HG00280.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01496.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02280.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18945.hp1 NA18946.hp2 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18973.hp1 NA18975.hp1 NA18984.hp1 NA18986.hp2 NA18995.hp2 NA19030.hp2 NA19054.hp1 NA19064.hp1 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0011 a0001c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 others(56): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0082 a0001c0001t0142 a0001c0001t0148 a0001c0001t0149 a0001c0001t0183 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0030 a0001c0002t0031 a0001c0002t0043 a0001c0002t0055 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0074 a0001c0002t0076 a0001c0002t0078 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0101 a0001c0002t0106 a0001c0002t0153 a0001c0002t0164 a0001c0002t0168 a0001c0002t0188 a0001c0002t0189 a0001c0002t0190 a0001c0002t0195 a0001c0003t0023 a0001c0003t0049 a0001c0003t0058 a0001c0003t0077 a0001c0003t0111 a0001c0003t0112 a0001c0003t0113 a0001c0003t0114 a0001c0004t0042 a0001c0004t0063 a0001c0004t0064 a0001c0004t0146 a0001c0004t0151 a0001c0004t0182 a0001c0004t0185 a0001c0004t0186 a0001c0004t0187 a0001c0008t0033 a0001c0011t0103 a0001c0012t0196	a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0004g0238 others(76): Show a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0004g0238 a0001c0001t0027g0073 a0001c0001t0066g0114 a0001c0001t0068g0070 a0001c0001t0069g0125 a0001c0001t0082g0097 a0001c0001t0142g0202 a0001c0001t0148g0203 a0001c0001t0149g0335 a0001c0001t0183g0154 a0001c0002t0003g0038 a0001c0002t0003g0215 a0001c0002t0003g0243 a0001c0002t0003g0267 a0001c0002t0003g0284 a0001c0002t0003g0292 a0001c0002t0003g0325 a0001c0002t0009g0092 a0001c0002t0009g0093 a0001c0002t0009g0104 a0001c0002t0009g0116 a0001c0002t0013g0123 a0001c0002t0014g0105 a0001c0002t0014g0107 a0001c0002t0014g0118 a0001c0002t0015g0023 a0001c0002t0030g0090 a0001c0002t0030g0091 a0001c0002t0031g0002 a0001c0002t0043g0283 a0001c0002t0043g0290 a0001c0002t0055g0176 a0001c0002t0055g0179 a0001c0002t0070g0126 a0001c0002t0071g0100 a0001c0002t0072g0087 a0001c0002t0074g0127 a0001c0002t0076g0088 a0001c0002t0078g0072 a0001c0002t0090g0106 a0001c0002t0091g0094 a0001c0002t0092g0133 a0001c0002t0093g0108 a0001c0002t0101g0141 a0001c0002t0106g0144 a0001c0002t0153g0291 a0001c0002t0164g0329 a0001c0002t0168g0180 a0001c0002t0188g0131 a0001c0002t0189g0178 a0001c0002t0190g0155 a0001c0002t0195g0148 a0001c0003t0023g0169 a0001c0003t0023g0171 a0001c0003t0023g0200 a0001c0003t0049g0147 a0001c0003t0049g0158 a0001c0003t0058g0132 a0001c0003t0077g0130 a0001c0003t0111g0067 a0001c0003t0112g0226 a0001c0003t0113g0220 a0001c0003t0114g0224 a0001c0004t0042g0209 a0001c0004t0042g0210 a0001c0004t0063g0080 a0001c0004t0064g0082 a0001c0004t0146g0213 a0001c0004t0151g0065 a0001c0004t0182g0078 a0001c0004t0185g0096 a0001c0004t0186g0081 a0001c0004t0187g0083 a0001c0008t0033g0142 a0001c0008t0033g0143 a0001c0011t0103g0145 a0001c0012t0196g0146	80	342	0.2339	185	c.327 others(204): Show c.327-30807_327-30806insGCATCTACACTGGCCTTAGAGATTGT CCTGTGTGAGGGTGTCTACAATGGCCTTAGAGATTGTTCCATGTGGGGGT GTACACTGGCTTCAGAGGTTGTCCTGTGTGGGGGTGTCTACACTGCCCTT AGAGATTGTCTTGTGTGGGGGGTATCTACACTGGCTTCAGAGATTGTCTT GTGTGGGGG	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
LMX1B_chr9_126608928_126706032	126660019	C C	CTGTGTGG others(178): Show CTGTGTGGGGGGCATCTACACTGGCCTTAGAGATTGTCCTGTGTGAGGGT GTCTACAATGGCCTTAGAGATTGTTCCATGTGGGGGTGTACACTGGTTTC AGAGGTTGTCCTGTGTGGGGGTGTCTACACTGCCCTTAGAGATTGTCTTG TGTGGGGGGTATCTACACTGGCTTCAGAGATTGTCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02683.hp2 HG01106.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0080 a0001c0002t0089 a0001c0001t0080 a0001c0002t0089	a0001c0001t0080g0099 a0001c0002t0089g0117 a0001c0001t0080g0099 a0001c0002t0089g0117	2	342	0.0059	185	c.327 others(204): Show c.327-30807_327-30806insGCATCTACACTGGCCTTAGAGATTGT CCTGTGTGAGGGTGTCTACAATGGCCTTAGAGATTGTTCCATGTGGGGGT GTACACTGGTTTCAGAGGTTGTCCTGTGTGGGGGTGTCTACACTGCCCTT AGAGATTGTCTTGTGTGGGGGGTATCTACACTGGCTTCAGAGATTGTCTT GTGTGGGGG	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
LMX1B_chr9_126608928_126706032	126660172	T T	TGGGGGTA others(178): Show TGGGGGTATCTACACTGGCTTCAGAGGTTGTCCTGAGTGGGGGTGTCTAC ACTGGCTTCAGAGGTTGTCCTGTGTGGGGGTGTCTACACTGGCCTTAGAG ATTGTCTTGTGTGGGGGTATCTACACTGGCTTCAGAGGTTGTCCTGTGGG GGGGTATCTACACTGGCTTCAGAGGTTGTCCTGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00639.hp1 others(77): Show HG00280.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01496.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp2 HG02280.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp1 NA18946.hp2 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18973.hp1 NA18975.hp1 NA18984.hp1 NA18986.hp2 NA18995.hp2 NA19030.hp2 NA19054.hp1 NA19064.hp1 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0011 a0001c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 others(56): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0080 a0001c0001t0082 a0001c0001t0142 a0001c0001t0148 a0001c0001t0149 a0001c0001t0183 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0030 a0001c0002t0031 a0001c0002t0043 a0001c0002t0055 a0001c0002t0056 a0001c0002t0070 a0001c0002t0071 a0001c0002t0074 a0001c0002t0076 a0001c0002t0078 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0101 a0001c0002t0106 a0001c0002t0153 a0001c0002t0164 a0001c0002t0168 a0001c0002t0188 a0001c0002t0189 a0001c0002t0190 a0001c0002t0195 a0001c0003t0023 a0001c0003t0049 a0001c0003t0111 a0001c0003t0112 a0001c0003t0113 a0001c0003t0114 a0001c0004t0042 a0001c0004t0063 a0001c0004t0064 a0001c0004t0146 a0001c0004t0151 a0001c0004t0182 a0001c0004t0185 a0001c0004t0186 a0001c0004t0187 a0001c0008t0033 a0001c0011t0103 a0001c0012t0196	a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0004g0238 others(76): Show a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0004g0238 a0001c0001t0027g0073 a0001c0001t0066g0114 a0001c0001t0068g0070 a0001c0001t0069g0125 a0001c0001t0080g0099 a0001c0001t0082g0097 a0001c0001t0142g0202 a0001c0001t0148g0203 a0001c0001t0149g0335 a0001c0001t0183g0154 a0001c0002t0003g0038 a0001c0002t0003g0215 a0001c0002t0003g0243 a0001c0002t0003g0267 a0001c0002t0003g0284 a0001c0002t0003g0292 a0001c0002t0003g0325 a0001c0002t0009g0092 a0001c0002t0009g0093 a0001c0002t0009g0104 a0001c0002t0009g0116 a0001c0002t0013g0123 a0001c0002t0014g0105 a0001c0002t0014g0107 a0001c0002t0014g0118 a0001c0002t0015g0023 a0001c0002t0030g0090 a0001c0002t0030g0091 a0001c0002t0031g0002 a0001c0002t0043g0283 a0001c0002t0043g0290 a0001c0002t0055g0176 a0001c0002t0055g0179 a0001c0002t0056g0157 a0001c0002t0070g0126 a0001c0002t0071g0100 a0001c0002t0074g0127 a0001c0002t0076g0088 a0001c0002t0078g0072 a0001c0002t0089g0117 a0001c0002t0090g0106 a0001c0002t0091g0094 a0001c0002t0092g0133 a0001c0002t0093g0108 a0001c0002t0101g0141 a0001c0002t0106g0144 a0001c0002t0153g0291 a0001c0002t0164g0329 a0001c0002t0168g0180 a0001c0002t0188g0131 a0001c0002t0189g0178 a0001c0002t0190g0155 a0001c0002t0195g0148 a0001c0003t0023g0169 a0001c0003t0023g0171 a0001c0003t0023g0200 a0001c0003t0049g0147 a0001c0003t0049g0158 a0001c0003t0111g0067 a0001c0003t0112g0226 a0001c0003t0113g0220 a0001c0003t0114g0224 a0001c0004t0042g0209 a0001c0004t0042g0210 a0001c0004t0063g0080 a0001c0004t0064g0082 a0001c0004t0146g0213 a0001c0004t0151g0065 a0001c0004t0182g0078 a0001c0004t0185g0096 a0001c0004t0186g0081 a0001c0004t0187g0083 a0001c0008t0033g0142 a0001c0008t0033g0143 a0001c0011t0103g0145 a0001c0012t0196g0146	80	342	0.2339	185	c.327 others(204): Show c.327-30630_327-30629insAGTGGGGGTGTCTACACTGGCTTCAG AGGTTGTCCTGTGTGGGGGTGTCTACACTGGCCTTAGAGATTGTCTTGTG TGGGGGTATCTACACTGGCTTCAGAGGTTGTCCTGTGGGGGGGTATCTAC ACTGGCTTCAGAGGTTGTCCTGTGGGGGGGTATCTACACTGGCTTCAGAG GTTGTCCTG	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
LOC400499_chr16_11367015_11532247	11499173	G G	GAAGGGAG others(178): Show GAAGGGAGGCAGAGGGGAGGGGGGAAGGGAGGCAGAGGGGAGGGGGGAAG GGAGGCAGAGGGGAGGGGGGGAGGGAGGCAGAGGGGAGGGGGGAAGGGAG GCAGAGGGGAGGGGGGAAGGGAGGGAGAGGGGAGGGGGGAAGGGAGGCAG AGGGGAGGGGGGGAGGGAGGCAGAGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0194 a0194	a0194c0231 a0194c0231	a0194c0231t0002 a0194c0231t0002	a0194c0231t0002g0306 a0194c0231t0002g0306	1	310	0.0032	185	c.124 others(204): Show c.1245+1630_1245+1631insTCCCCCCTCCCCTCTGCCTCCCTCCC CCCCTCCCCTCTGCCTCCCTTCCCCCCTCCCCTCTCCCTCCCTTCCCCCC TCCCCTCTGCCTCCCTTCCCCCCTCCCCTCTGCCTCCCTCCCCCCCTCCC CTCTGCCTCCCTTCCCCCCTCCCCTCTGCCTCCCTTCCCCCCTCCCCTCT GCCTCCCTT	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(178): Show ACATCTACCTCCACACCCGCGCTTACACCCACCCTTACATCTACCTCCAC ACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACGCCCACACTCACACCCACCCTTAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	290	0.0035	185	c.129 others(204): Show c.1290-1078_1290-1077insCATCTACCTCCACACCCGCGCTTACA CCCACCCTTACATCTACCTCCACACCCACACTTACACCCACACTTACATC TACCTCCACACCCACACTTACATCTACCTCCACACCCACACTTACACCCA CCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTCACACC CACCCTTAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LRRC37A3_chr17_64849130_64924478	64912240	T T	TATGCAGA others(178): Show TATGCAGATATACATCTACATACATACACAATGTATGCATGTAGATATAC ATCTACATACATACACAATGTATGCATGTAGATATACATCTACATACATA CACAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCA TGTAGATATACATCTACATACATACACAATGTATGC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG02622.hp1 others(1): Show HG01346.hp1 HG01884.hp2 HG02622.hp1 HG03130.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0003 a0004c0005t0003g0004 a0004c0005t0003g0005 others(1): Show a0004c0005t0003g0003 a0004c0005t0003g0004 a0004c0005t0003g0005 a0004c0005t0003g0007	4	138	0.0290	185	c.-49 others(204): Show c.-496+6509_-496+6510insGCATACATTGTGTATGTATGTAGATG TATATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGC ATACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTAT GTATGTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTA TATCTGCAT	LRRC37A3	ENSG00000176809.11	transcript	ENST00000584306.6	protein_coding	2/14			chr17	TogoVar
LRRC37A3_chr17_64849130_64924478	64912240	T T	TATGTAGA others(178): Show TATGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATAC ATCTACATACATACACAATGTATGCATGTAGATATACATCTACATACATA CACAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCA TGTAGATATACATCTACATACATACACAATGTATGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01109.hp1 others(32): Show HG00544.hp1 HG00609.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02922.hp1 HG02976.hp2 HG03471.hp2 HG03486.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp1 NA18522.hp2 NA18971.hp2 NA18981.hp2 NA18991.hp1 NA19004.hp2 NA19043.hp2 NA19066.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0014 a0015 others(4): Show a0001 a0014 a0015 a0016 a0020 a0022 a0024	a0001c0001 a0014c0015 a0015c0014 others(4): Show a0001c0001 a0014c0015 a0015c0014 a0016c0020 a0020c0022 a0022c0018 a0024c0017	a0001c0001t0001 a0001c0001t0009 a0014c0015t0001 others(5): Show a0001c0001t0001 a0001c0001t0009 a0014c0015t0001 a0015c0014t0001 a0016c0020t0006 a0020c0022t0001 a0022c0018t0001 a0024c0017t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 others(32): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0009g0010 a0014c0015t0001g0052 a0015c0014t0001g0085 a0016c0020t0006g0136 a0020c0022t0001g0049 a0022c0018t0001g0074 a0024c0017t0001g0093	35	138	0.2536	185	c.-49 others(204): Show c.-496+6509_-496+6510insGCATACATTGTGTATGTATGTAGATG TATATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGC ATACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTAT GTATGTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTA TATCTACAT	LRRC37A3	ENSG00000176809.11	transcript	ENST00000584306.6	protein_coding	2/14			chr17	TogoVar
LUC7L_chr16_183990_234449	187122	G G	GGAGGAAC others(178): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGG AACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18982.hp1 NA18612.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0338 a0001c0001t0002g0340	2	350	0.0057	185	c.20 others(196): Show c.2075_*2076insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT C	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1867		chr16	TogoVar
LUC7L_chr16_183990_234449	187190	G G	GGAGGAAC others(178): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTC ACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGG AACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG00621.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0270 a0001c0001t0001g0065 a0001c0001t0001g0270	2	350	0.0057	185	c.20 others(196): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCC GTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT C	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(178): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	436	0.0023	185	c.40 others(196): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGG AAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGGAAAGAAAGG AAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGTTA G	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(178): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0141 a0007c0012t0002g0141	1	436	0.0023	185	c.40 others(196): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGTAA G	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar

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