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
MLPH_chr2_237482251_237560322	237543578	G G	GGGGGACA others(219): Show GGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAG TGGAGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTTGGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGG TGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAG TGGCAAGTGGGCACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03041.hp2 HG03453.hp1 HG01358.hp2 HG03041.hp2 HG03453.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0003 a0006c0006t0001 a0006c0006t0003	a0006c0006t0001g0115 a0006c0006t0003g0118 a0006c0006t0003g0126 a0006c0006t0001g0115 a0006c0006t0003g0118 a0006c0006t0003g0126	3	286	0.0105	226	c.153 others(243): Show c.1539+938_1539+939insGACAGTAATGAGTCGGGGGACAGTGGTG AGTGGAGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTTGGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGAC AGTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMACHC_chr1_45495300_45518382	45497707	G G	GGGGGGGG others(219): Show GGGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCAGGGAGGGAGG TGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCAGTCCGGGAGGGAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02738.hp1 HG03927.hp2 others(1): Show HG00408.hp1 HG02738.hp1 HG03927.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0007 a0001c0002t0022 a0001c0002t0005 a0001c0002t0007 a0001c0002t0022	a0001c0002t0005g0048 a0001c0002t0007g0001 a0001c0002t0007g0059 others(1): Show a0001c0002t0005g0048 a0001c0002t0007g0001 a0001c0002t0007g0059 a0001c0002t0022g0001	4	386	0.0104	226	c.-26 others(237): Show c.-2626_-2625insGGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCC CGTCAGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGT	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2592		chr1	TogoVar
MSLN_chr16_755734_773862	767672	G G	GGGTGTGG others(219): Show GGGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGCGTGGAGGAG GGGCGAGTGGGAGGAGGGGCGCGTGGAGGGGGGGCACGTGGAGGGGGCCG TGTGGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGG TGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGC GTGTGGGGGGGCGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	388	0.0026	226	c.159 others(243): Show c.1596+203_1596+204insGTGTGGGGGGGGCACGTGGAGGGGGGCG TGTGGGGGGGCGTGGAGGAGGGGCGAGTGGGAGGAGGGGCGCGTGGAGGG GGGGCACGTGGAGGGGGCCGTGTGGGGGGGGCGTGGAGGAGGGGCGCGTG GAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGG GGGGGCACGTGGAGGGGGGCGTGTGGGGGGGCGCGTGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767753	C C	CGCGTGGG others(219): Show CGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTG GAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGG CGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	388	0.0026	226	c.159 others(243): Show c.1596+289_1596+290insGGGTGTGTGGGGGGGGCACGTGGAGGGG GGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTG GAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGG GGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGG GGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(219): Show TTTATAATATATAATTTATAATTATAAATTATAAATTATAATATATAATT TATATATTATAAATTATAATATATAATTTATATATTATAATTTATAATAT ATAATTTATATATTATAATTTATAATATATAATTTATAATTATAAGTTAT ATATTATAATTTTTAATTATAAGTTATAATATATAACTTATAATTATAAG TTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	284	0.0035	226	c.710 others(243): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAATTATAAGTTATATATTATAACTTATAATTAAAAATTATAATATA TAACTTATAATTATAAATTATATATTATAAATTATAATATATAAATTATA TATTATAAATTATAATATATAAATTATATATTATAATTTATAATATATAA ATTATATATTATAATTTATAATTTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(219): Show TTTATAATATATAATTTATAATTATAAATTATAAATTATAATATATAATT TATATATTATAAATTTATAATATATAATTTATATATTATAATTTATAATA TATAATTTATAATTATAAGTTATATATTATAATTTTTAATTATAAGTTAT AATATATAACTTATAATTATAAGTTATAATATATAACTTATAATTATAAG TTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp1 others(68): Show HG00140.hp1 HG00323.hp2 HG00609.hp1 HG01074.hp1 HG01109.hp1 HG01123.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01891.hp1 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp2 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18955.hp1 NA18959.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19006.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19075.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA20129.hp1 NA21309.hp1	a0002 a0003 a0004 others(8): Show a0002 a0003 a0004 a0009 a0012 a0023 a0025 a0026 a0028 a0029 a0034	a0002c0002 a0003c0003 a0003c0034 others(9): Show a0002c0002 a0003c0003 a0003c0034 a0004c0004 a0009c0007 a0012c0025 a0023c0028 a0025c0029 a0026c0031 a0028c0030 a0029c0035 a0034c0047	a0002c0002t0001 a0003c0003t0001 a0003c0003t0010 others(10): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0010 a0003c0034t0001 a0004c0004t0003 a0009c0007t0001 a0012c0025t0001 a0023c0028t0001 a0025c0029t0001 a0026c0031t0001 a0028c0030t0001 a0029c0035t0001 a0034c0047t0001	a0002c0002t0001g0069 a0002c0002t0001g0077 a0002c0002t0001g0091 others(64): Show a0002c0002t0001g0069 a0002c0002t0001g0077 a0002c0002t0001g0091 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0138 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0140 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0192 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0210 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0239 a0003c0003t0010g0011 a0003c0034t0001g0197 a0004c0004t0003g0149 a0004c0004t0003g0150 a0004c0004t0003g0151 a0004c0004t0003g0152 a0004c0004t0003g0153 a0004c0004t0003g0154 a0004c0004t0003g0155 a0004c0004t0003g0156 a0009c0007t0001g0026 a0009c0007t0001g0036 a0009c0007t0001g0037 a0009c0007t0001g0040 a0012c0025t0001g0110 a0023c0028t0001g0232 a0025c0029t0001g0209 a0026c0031t0001g0206 a0028c0030t0001g0201 a0029c0035t0001g0127 a0034c0047t0001g0063	71	284	0.2500	226	c.710 others(243): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAATTATAAGTTATATATTATAACTTATAATTATAAGTTATATATTA TAACTTATAATTAAAAATTATAATATATAACTTATAATTATAAATTATAT ATTATAAATTATAATATATAAATTATATATTATAAATTTATAATATATAA ATTATATATTATAATTTATAATTTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYO1B_chr2_191240404_191430386	191398423	A A	ATCCCCCC others(219): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0019 a0001c0007t0001g0019	1	170	0.0059	226	c.229 others(245): Show c.2295+1926_2295+1927insTCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30			chr2	TogoVar
MYO7A_chr11_77123246_77220241	77192915	G G	GGTAGTTG others(219): Show GGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAG GTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGATGGT GGGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGT GATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGAC TATGGTAATATTGGAGGTAGGGATGAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02055.hp2 others(10): Show HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02451.hp1 HG02630.hp2 HG02723.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 NA18906.hp1 NA19240.hp2	a0001 a0005 a0040 a0001 a0005 a0040	a0001c0005 a0001c0018 a0001c0020 others(7): Show a0001c0005 a0001c0018 a0001c0020 a0001c0042 a0001c0071 a0001c0075 a0005c0017 a0005c0056 a0005c0096 a0040c0049	a0001c0005t0001 a0001c0018t0001 a0001c0020t0001 others(7): Show a0001c0005t0001 a0001c0018t0001 a0001c0020t0001 a0001c0042t0001 a0001c0071t0001 a0001c0075t0001 a0005c0017t0001 a0005c0056t0001 a0005c0096t0001 a0040c0049t0001	a0001c0005t0001g0015 a0001c0005t0001g0314 a0001c0018t0001g0317 others(9): Show a0001c0005t0001g0015 a0001c0005t0001g0314 a0001c0018t0001g0317 a0001c0020t0001g0310 a0001c0042t0001g0328 a0001c0071t0001g0335 a0001c0075t0001g0309 a0005c0017t0001g0135 a0005c0017t0001g0316 a0005c0056t0001g0307 a0005c0096t0001g0062 a0040c0049t0001g0093	13	356	0.0365	226	c.415 others(243): Show c.4152+638_4152+639insTAGTTGTTTGTGATGGTGGAGGTAGTGA TGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAG GTGGTGATGGTGTTGATGGTGGGGAGGTAGTGATGGTGTTGGTGATGGTG GAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAG GTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	175670512	A A	AATTTATA others(219): Show AATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAA TGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATA TATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAA TTTATATTAAATGTAAATTTAATATATTTATATTAAATGTAAATTTAATA TATTTATATTAAATGTAAAATTAATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0010 a0004c0008t0010	a0004c0008t0010g0036 a0004c0008t0010g0036	1	64	0.0156	226	c.189 others(247): Show c.1896+43150_1896+43151insATATTTATATTAAATTTATATTAA ATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAAT ATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAA ATTTATATTAAATGTAAATTTAATATATTTATATTAAATGTAAATTTAAT ATATTTATATTAAATGTAAAATTAATATATTTATATTAAATGTAAATTTA AT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175698315	A A	ATACATAT others(219): Show ATACATATATATGTGTATGTATGTATACATATATATGTGTATGTATGTAT ACATATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGC ATATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCAT ATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCATAT ATATGTGTATGTATGTATGCATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0030 a0001c0001t0030g0030	1	64	0.0156	226	c.189 others(247): Show c.1897-38990_1897-38989insACATATATATGTGTATGTATGTAT ACATATATATGTGTATGTATGTATACATATATATGTGTATGTATGTATGC ATATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCAT ATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCATAT ATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCATATAT GT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAGK_chr2_71063648_71084808	71081115	T T	TTTATTTT others(219): Show TTTATTTTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT TGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTTATGTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	226	c.26 others(237): Show c.2607_*2608insTTATTTTATTTTATTTTATTTTATTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTTGTTATGTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1308		chr2	TogoVar
NAV2_chr11_19707837_20126601	19860082	G G	GGGCAGAG others(219): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGGCGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0004 a0004	a0004c0127 a0004c0127	a0004c0127t0002 a0004c0127t0002	a0004c0127t0002g0049 a0004c0127t0002g0049	1	166	0.0060	226	c.439 others(243): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCOR2_chr12_124319415_124572612	124439008	C C	CAGAGGGA others(219): Show CAGAGGGAGAGAGAGACCCAGAGAGAGAGAGAGACAGAGACCCAGAGACA GAGGGAGAGACAGAGACCCAGAGACAGAGACCCAGAGACAGAGGGAGACA GAAACCCAGAGAGAGGGAAACAGAGACCCAGAGAGAGAGAGACGGAAACC CAGAGACAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCA GAGAGAGAGGGAGACAGAAACCCAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp2 HG02572.hp1 HG02965.hp2	a0016 a0023 a0016 a0023	a0016c0155 a0023c0157 a0016c0155 a0023c0157	a0016c0155t0001 a0023c0157t0001 a0016c0155t0001 a0023c0157t0001	a0016c0155t0001g0135 a0023c0157t0001g0131 a0016c0155t0001g0135 a0023c0157t0001g0131	2	234	0.0086	226	c.816 others(243): Show c.816-1013_816-1012insCTCTGGGTTTCTGTCTCCCTCTCTCTCT GGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTGTCTCTGG GTTTCCGTCTCTCTCTCTCTGGGTCTCTGTTTCCCTCTCTCTGGGTTTCT GTCTCCCTCTGTCTCTGGGTCTCTGTCTCTGGGTCTCTGTCTCTCCCTCT GTCTCTGGGTCTCTGTCTCTCTCTCTCTCTGGGTCTCTCTCTCCCTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NFE2L3_chr7_26147198_26192137	26177004	T T	TGGCCAGG others(219): Show TGGCCAGGCAGAGGCGCTCCTCACTTCCCAGACGGGGTGGCCAGGCAGAG GCGCTCCTCACATCCCAGACGATGGGCAGCCGGGCAGAGGCGCTCCTCAC TTCCCAGACGGGGTGGCCAGGCAGAGGCGCTCCTCACTTCCCAGACGGGG TGGCCAGGCAGAGGCGCTCCTCACTTCCCAGACGATGGGTGGCCGGGCAG AGGCACTCCTCACCTCCCAGACGGGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp2 HG02647.hp1 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0039 a0002c0004t0009g0039	2	400	0.0050	226	c.571 others(241): Show c.571-935_571-934insAGGCAGAGGCGCTCCTCACTTCCCAGACGG GGTGGCCAGGCAGAGGCGCTCCTCACATCCCAGACGATGGGCAGCCGGGC AGAGGCGCTCCTCACTTCCCAGACGGGGTGGCCAGGCAGAGGCGCTCCTC ACTTCCCAGACGGGGTGGCCAGGCAGAGGCGCTCCTCACTTCCCAGACGA TGGGTGGCCGGGCAGAGGCACTCCTCACCTCCCAGACGGGGCGGCC	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NLRP13_chr19_55890945_55937336	55930880	A A	ATATATAT others(219): Show ATATATATATATATATATACACACACGTATATATATACATATATATACAT ACACATATATATATACATATATATACATACACATATATATACATATATAT ACATACACATATATATACATATATATACATACACATATATATACATATAT ATACATACACATATATATACATACATATACATACACATATATATATACAT ACACATATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02451.hp1 HG02896.hp2 HG02897.hp1 NA19043.hp2	a0003 a0004 a0003 a0004	a0003c0006 a0004c0013 a0003c0006 a0004c0013	a0003c0006t0001 a0004c0013t0001 a0003c0006t0001 a0004c0013t0001	a0003c0006t0001g0103 a0004c0013t0001g0095 a0004c0013t0001g0096 others(1): Show a0003c0006t0001g0103 a0004c0013t0001g0095 a0004c0013t0001g0096 a0004c0013t0001g0099	4	440	0.0091	226	c.319 others(243): Show c.319+1112_319+1113insCACATATATATGTATATATATATGTGTA TGTATATATATATGTGTATGTATATGTATGTATATATATGTGTATGTATA TATATGTATATATATGTGTATGTATATATATGTATATATATGTGTATGTA TATATATGTATATATATGTGTATGTATATATATGTATATATATATGTGTA TGTATATATATGTATATATATACGTGTGTGTATATATATATATATATA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NXN_chr17_794310_984776	948901	T T	TGCCTCCT others(219): Show TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0010 a0001c0001t0027g0010	1	242	0.0041	226	c.360 others(245): Show c.360+30417_360+30418insCGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(219): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA AGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	296	0.0034	226	c.-20 others(235): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
ODAD3_chr19_11415605_11440121	11425022	C C	CCTATGTG others(219): Show CCTATGTGTATATATGTATATATGTGTATATATACCTATGTGTATATATA CCTATGTGTATATATACCTATGTGTATATATACCTATGTGTATATATACC TATGTGTATATATACCTATGTGTATATATACATATGTGTATATATACCTA TGTGTATATATACATATGTGTATATATACCTATGTGTATATATACATATG TGTATATATACCTATGTGTATATGTAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	398	0.0025	226	c.964 others(241): Show c.964-994_964-993insATACATATACACATAGGTATATATACACAT ATGTATATATACACATAGGTATATATACACATATGTATATATACACATAG GTATATATACACATATGTATATATACACATAGGTATATATACACATAGGT ATATATACACATAGGTATATATACACATAGGTATATATACACATAGGTAT ATATACACATAGGTATATATACACATATATACATATATACACATAG	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(219): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCAGGCGGGC AGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	440	0.0023	226	c.-41 others(237): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATAT CCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCAGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(219): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGC AGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCACCTCCCTCCCGGACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	440	0.0023	226	c.-41 others(237): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATAT CCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(219): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGC AGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(294): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0005c0007 a0006c0008 a0007c0009	a0001c0001t0000 a0001c0002t0000 a0002c0003t0000 others(4): Show a0001c0001t0000 a0001c0002t0000 a0002c0003t0000 a0003c0004t0000 a0005c0007t0000 a0006c0008t0000 a0007c0009t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0002c0003t0000g0000 others(4): Show a0001c0001t0000g0000 a0001c0002t0000g0000 a0002c0003t0000g0000 a0003c0004t0000g0000 a0005c0007t0000g0000 a0006c0008t0000g0000 a0007c0009t0000g0000	297	440	0.6750	226	c.-41 others(237): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATAT CCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(219): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGC AGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01496.hp1 HG01884.hp1 others(19): Show HG00673.hp1 HG01496.hp1 HG01884.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02809.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2 NA18906.hp2 NA18982.hp2 NA19030.hp1 NA19074.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0000 a0001c0002t0000 a0001c0005t0000 a0001c0001t0000 a0001c0002t0000 a0001c0005t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0005t0000g0000 a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0005t0000g0000	22	440	0.0500	226	c.-41 others(237): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATAT CCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GTGGCTGG others(219): Show GTGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGC AGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	440	0.0023	226	c.-41 others(237): Show c.-4132_-4131insTGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATAT CCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098718	A A	AGGCGGGG others(219): Show AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCC CTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGCACGGCTGGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02723.hp1 HG02895.hp1 others(2): Show HG02109.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	5	440	0.0114	226	c.-41 others(237): Show c.-4122_-4121insGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGA CGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGG CGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCG	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4121		chr11	TogoVar
OMP_chr11_77097840_77108331	77098718	A A	AGGCGGGG others(219): Show AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCC CTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGCACGGCTGGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02258.hp2 HG01081.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	440	0.0046	226	c.-41 others(237): Show c.-4122_-4121insGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGA CGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGG CGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCTG	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4121		chr11	TogoVar
OMP_chr11_77097840_77108331	77098731	A A	ACCCCCCC others(219): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTG ACCCCCCCATATCCCTCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GCACGGCTGGCCAGGCGGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	440	0.0023	226	c.-41 others(237): Show c.-4109_-4108insCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGGCTGACCCCCCCATATCCCTCCAGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCC CCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGAC	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4108		chr11	TogoVar
OPRM1_chr6_154034240_154137356	154100188	C C	CATATATC others(219): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACATATATC ATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0150 a0001c0001t0008g0150	1	268	0.0037	226	c.116 others(245): Show c.1164+8720_1164+8721insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATATCATAATATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(219): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACATATATC ATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01074.hp1 others(31): Show HG00544.hp2 HG00597.hp2 HG01074.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02083.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG03490.hp1 HG03710.hp2 HG03942.hp2 NA18747.hp1 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18961.hp2 NA18963.hp2 NA18977.hp1 NA18983.hp1 NA18994.hp2 NA19009.hp2 NA19011.hp2 NA19079.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0032 a0001c0001t0068 a0001c0001t0072 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0086 a0001c0001t0092 a0001c0001t0094 a0002c0002t0001 a0002c0002t0077 a0003c0003t0123	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0045 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0006g0067 a0001c0001t0006g0069 a0001c0001t0006g0071 a0001c0001t0008g0047 a0001c0001t0008g0159 a0001c0001t0032g0178 a0001c0001t0032g0179 a0001c0001t0068g0061 a0001c0001t0072g0154 a0001c0001t0078g0118 a0001c0001t0079g0180 a0001c0001t0080g0109 a0001c0001t0086g0054 a0001c0001t0092g0143 a0001c0001t0094g0151 a0002c0002t0001g0002 a0002c0002t0001g0156 a0002c0002t0001g0169 a0002c0002t0077g0123 a0003c0003t0123g0027	34	268	0.1269	226	c.116 others(245): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATATCATAATATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OR2T12_chr1_248285139_248308424	248306453	C C	CCCTGAGG others(219): Show CCCTGAGGACTGGAGCCCCCAGAGGACTGGAGCCGCCTGAGGACTGGAGC CGCCCTGAGGACAGGAGCCGCCTGAGGACTGGAGCCGCCCTGAGGACTGG AGCCGCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACT GGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTGGAACCCCCTGAGGA CTGGAGCCGCCCTGAGGACAGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0017 a0004c0004t0011g0017	1	406	0.0025	226	c.-32 others(237): Show c.-3298_-3297insCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAG GGGGTTCCAGTCCTCAGGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTC AGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGCGGCTCCAGTCC TCAGGGCGGCTCCAGTCCTCAGGCGGCTCCTGTCCTCAGGGCGGCTCCAG TCCTCAGGCGGCTCCAGTCCTCTGGGGGCTCCAGTCCTCAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3030		chr1	TogoVar
PACS2_chr14_105309748_105403147	105350008	C C	CCCGAGAA others(219): Show CCCGAGAACTTCCAGGAGCGTGTGGCTAATAGCAGGACCCCAAGAACTTC CAGGAGTGCGTGGCTAATGCAGGACCCGGAGAACTTCCAGGAGAGCGTGG CTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATGCAGGAC CCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTC CGGGAGCGCGTGGCTAATAGCAGGACG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0193 a0001c0004t0014g0193	1	210	0.0048	226	c.207 others(243): Show c.207+1440_207+1441insAGGAGCGTGTGGCTAATAGCAGGACCCC AAGAACTTCCAGGAGTGCGTGGCTAATGCAGGACCCGGAGAACTTCCAGG AGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTA ATGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCC GAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACGCCGAGAACTTCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(219): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGAGGGGGGAGGGGAGGGGAGCGGGAGGGGAGGGGGAGGGG AGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	302	0.0033	226	c.155 others(243): Show c.1551+373_1551+374insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(219): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCC CCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCC CCTCCCTCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0015 a0004c0032t0015	a0004c0032t0015g0275 a0004c0032t0015g0275	1	308	0.0033	226	c.226 others(245): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCT CCCTCCCCTCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAM16_chr16_4335251_4356321	4344629	A A	AGGGGGTT others(219): Show AGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCC GTGAGAGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGGGACTGTG TGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGT TCCGTGAGAGGAGGGGATTGTGTGAGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	367	0.0027	226	c.4-1 others(239): Show c.4-1339_4-1338insCCTCACACAATCCCCTCCTCTCACGGAACCCC CTCCTCTCACAGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAG TCCCCTTCTCTCACAGAACCCCCTCCTCTCACACAATCCTCTCACGGAAC CCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACA GAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PARP8_chr5_50661637_50851519	50730219	C C	CTATAACT others(219): Show CTATAACTAAATGTGTGCAGTTGTTCAAAATTGCTCCTCTTCTAAAGTGA AAATCTCATTCACCTAACAAAATAAAACTAGATAAATTTTTGTTTTCCTA CTGCTTTGGTGACTATGAACTAAGTAAAAATAGTTTTTAGTAGGGTCATC TCATTGTTATAGGAACTCTGGATAACTAATCAATTTGCAAAAGTAATGCC AAATGGAGTGAGATATGCCTCACTCCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0059 a0001c0004t0005g0059	1	328	0.0031	226	c.147 others(245): Show c.147-19931_147-19930insATAACTAAATGTGTGCAGTTGTTCAA AATTGCTCCTCTTCTAAAGTGAAAATCTCATTCACCTAACAAAATAAAAC TAGATAAATTTTTGTTTTCCTACTGCTTTGGTGACTATGAACTAAGTAAA AATAGTTTTTAGTAGGGTCATCTCATTGTTATAGGAACTCTGGATAACTA ATCAATTTGCAAAAGTAATGCCAAATGGAGTGAGATATGCCTCACTCCAT	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCBP3_chr21_45638725_45947450	45909737	T T	TGGCCCAC others(219): Show TGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCACCCACTGCCCAGATACGGACCC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	292	0.0034	226	c.471 others(241): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCC CAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(219): Show CCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCA GATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCA CTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACGGACCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0246 a0001c0001t0002g0247	2	292	0.0069	226	c.471 others(241): Show c.471+314_471+315insCACCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATAC GGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101312150	C C	CCACCCCA others(219): Show CCACCCCATCATCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGC TCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGC CCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACAG CCCACCCCATCATCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAG CTCACCCCATCGTCACCCCTCACAGCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0283 a0001c0002t0006g0283	1	336	0.0030	226	c.269 others(245): Show c.2699+1225_2699+1226insAGCTGTGAGGGGTGACGATGGGGTGA GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGG GCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTG AGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGATGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312150	C C	CCACCCCA others(219): Show CCACCCCATCGTCACCCCTCACAGCCCACCCCATCATCACCCCTCACAGC CCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGC TCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACAG CCCACCCCATCATCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAG CTCACCCCATCGTCACCCCTCACAGCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0102 a0001c0012t0001g0102	1	336	0.0030	226	c.269 others(245): Show c.2699+1225_2699+1226insAGCTGTGAGGGGTGACGATGGGGTGA GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGG GCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG AGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(219): Show GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACACCCTCACAGCCCACCCCATCATCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCTCACCCCAT CGTCACCCCTCACAGCCCACCCCATCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0008 a0002c0031t0001g0008	1	336	0.0030	226	c.269 others(245): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGGTGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(219): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCACTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCC CCTCCCTCATCCCCTCCCCACTCCCCCCTCCCCTCCCCCATCCCCTCCCC ACTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0015 a0002c0008t0001g0015	1	336	0.0030	226	c.-37 others(237): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGG GGATGGGGGAGGGGAGGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGGG GGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDIA2_chr16_278164_292215	285909	C C	CCCAACCC others(219): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCC CAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTC TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0163 a0007c0009t0001g0163	1	436	0.0023	226	c.111 others(243): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCAACCCCAACC CCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGG TTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACACCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43741153	C C	CGGGGGGC others(219): Show CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGTGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGG CGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGG GGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGCGGGGCTCGCG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	358	0.0028	226	c.143 others(241): Show c.143-497_143-496insCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGCTCGCGTGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGCGGGGCTCGCGGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PELI3_chr11_66461905_66482337	66462148	A A	AAGGGAAG others(219): Show AAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAGGGGAAGGGG AGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAGGGGGAGGGGA GGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGGGAGGAGGAGTG GGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAAGGGAAAGGGAAG GAGGGAAGGGGAGGGGGGAGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	396	0.0025	226	c.-48 others(237): Show c.-4881_-4880insAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAG GAGAAGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAG GGAAGGGGGAGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGA GGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGG GAAGGGAAAGGGAAGGAGGGAAGGGGAGGGGGGAGGGGAGGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4756		chr11	TogoVar
PGBD2_chr1_248901235_248924146	248911643	A A	AGACGGGG others(219): Show AGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTTGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	422	0.0024	226	c.-47 others(243): Show c.-47-2124_-47-2123insAGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGTTGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGBD2_chr1_248901235_248924146	248911666	A A	AGGGGCTC others(219): Show AGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCAC CTCCCAGGCGGGTCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCAGAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0180 a0001c0003t0002g0180	1	422	0.0024	226	c.-47 others(243): Show c.-47-2124_-47-2123insAGCCGGGCAGAGGCGCCCCTCACCTCCC AGGCGGGTCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCAGAGGGGGCTCCTCACTTCCCAGTAGGGGC	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHIP_chr6_78929419_79083254	79014067	T T	TTACAAAC others(219): Show TTACAAACCTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0052 a0003c0003t0052	a0003c0003t0052g0298 a0003c0003t0052g0298	1	318	0.0031	226	c.152 others(245): Show c.1524+1014_1524+1015insCGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAGGTTTGTA	PHIP	ENSG00000146247.15	transcript	ENST00000275034.5	protein_coding	15/39			chr6	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(219): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCGCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	237	0.0042	226	c.537 others(243): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGCGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(219): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	342	0.0029	226	c.-66 others(245): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3C3_chr18_41950234_42092830	41952015	A A	AGGGAAGG others(219): Show AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAAGGAGGGAAAGGGGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAG GGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGAAGGAGGGAAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0228 a0001c0002t0005g0228	1	340	0.0029	226	c.-32 others(237): Show c.-3277_-3276insGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGGAAGGAGGGAAAGGGGGGAAGGGAGGGGAAG GGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGAGGGAAAGGG	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding		3218		chr18	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(219): Show GTAGATGCATGTAGATACGTGTATACATATATACATGTAGATGCATGTAG ATACATGTATACATATATACATGTAGATGCATGTAGATACATGTATACAT ATATACATGTAGATGCATGTAGATACATGTATACATATATACATGTAGAT ACATGTAGATACATGTATACATGTAGATACATGTATACATATATACATGT AGATACATGTAGATACATGTATACATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0217 a0001c0001t0043g0217	1	308	0.0033	226	c.335 others(245): Show c.335-10581_335-10580insGATGCATGTAGATACGTGTATACATA TATACATGTAGATGCATGTAGATACATGTATACATATATACATGTAGATG CATGTAGATACATGTATACATATATACATGTAGATGCATGTAGATACATG TATACATATATACATGTAGATACATGTAGATACATGTATACATGTAGATA CATGTATACATATATACATGTAGATACATGTAGATACATGTATACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar

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