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
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(210): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATATTATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATTATATATTATAATATATAATATATATTATAT ATATAATATATATTATATATAATATATATTATATATATATAATATATATA ATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp2 HG01257.hp1 others(20): Show HG00438.hp2 HG01255.hp2 HG01257.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02071.hp2 HG04115.hp1 HG04228.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18971.hp2 NA18977.hp2 NA18983.hp2 NA18990.hp1 NA18998.hp1 NA19007.hp1 NA19084.hp2 NA19088.hp2 NA20905.hp1 NA21309.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0041 a0001c0001 a0016c0041	a0001c0001t0001 a0016c0041t0001 a0001c0001t0001 a0016c0041t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(20): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0016c0041t0001g0084	23	334	0.0689	217	c.547 others(234): Show c.5473-422_5473-421insTATATTTAAAATATATATTATATATATT ATATATATATAATATATATTATATATAATATATATTATATATATAATATA TATTATATATTATAATATATAATATATATTATATATTATATATATAATAT ATATTATATATATTATATATTATATATAATATATATTATATATATAATAT ATATTATATATATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYDGF_chr19_4652545_4675342	4663176	C C	CACAGCCT others(210): Show CACAGCCTCCAATCTACCCTCCCCATCCACCCCGTCCTCATTCTACAGCC TCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATC TACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAATCTACCC TCCCCATCCACCCCATCCTCATTCTACAGCCTTCAATCTACCCTCCCCAC CCACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02027.hp1 NA18944.hp1 HG02015.hp2 HG02027.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0138 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0138	3	410	0.0073	217	c.287 others(234): Show c.287+1699_287+1700insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGAAGGCTGTAGAATGAGGATGGGGTGGATGGGGAGGGTAGATTG GAGGCTGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGC TGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAA TGAGGACGGGGTGGATGGGGAGGGTAGATTGGAGGCTGT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663497	C C	CTACCCTC others(210): Show CTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCT CCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCA CCTCATCCTCATTCTACAGCCTCCAGTATACCCTCCCCACCCACCCTGTC CTCATTCTACACAGTCTCCAATCTGTGCTCTCCCCACCCACCCCATCCTC ATTCTACAAAGCCTCCAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0058 a0002c0003t0002g0058	1	410	0.0024	217	c.287 others(234): Show c.287+1378_287+1379insTTGGAGGCTTTGTAGAATGAGGATGGGG TGGGTGGGGAGAGCACAGATTGGAGACTGTGTAGAATGAGGACAGGGTGG GTGGGGAGGGTATACTGGAGGCTGTAGAATGAGGATGAGGTGGGGAGGGT AGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATT GGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663552	C C	CCCACCCA others(210): Show CCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCAC CTCATCCTCATTCTACAGCCTCCAACCTGTGCACTCTCCACCCACCCCAT CCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCA TTCTACACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTCTACAGC CTCCAACCTGTGCACTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp2 HG02717.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0251 a0001c0001t0001g0222 a0001c0001t0001g0251	2	410	0.0049	217	c.287 others(234): Show c.287+1323_287+1324insAGAGTGCACAGGTTGGAGGCTGTAGAAT GAGGATGGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGG GTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGG TGGAGAGTGCACAGGTTGGAGGCTGTAGAATGAGGATGAGGTGGGGAGGG TAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663576	C C	CAGCCTCC others(210): Show CAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTC CAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTA CCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTC CCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCAC CCACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0057 a0002c0003t0002g0057	1	410	0.0024	217	c.287 others(234): Show c.287+1299_287+1300insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGAT TGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAG GCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAG AATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYNN_chr3_169768396_169794716	169771124	T T	TTTATATT others(210): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	350	0.0029	217	c.-23 others(228): Show c.-2370_-2369insTTATATTTATATATCATAAATATATAAAAATTTA TATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATA TATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTAT ATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATATATAAAAAA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2271		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771186	A A	TTTATATT others(210): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03942.hp1 HG02615.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0007g0005 a0001c0001t0001g0005 a0001c0001t0007g0005	2	350	0.0057	217	c.-23 others(228): Show c.-2309_-2308insTTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAAT ATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTA TATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAA AATTTATATTTATATATCATAAATATATAAAAA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2210		chr3	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(210): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCTCAC CCCCACCCCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCACTACC CCCACCCTCACCCTCACCCCCACCCCACCCTCACCCTCACCCCACCCTCA CCCTCACCCCCACCCCACCCCCACCCTCACCCTCACCCCCATCCTCACCC TCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG02922.hp2 others(4): Show HG01243.hp2 HG02486.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0001c0001 a0005c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0029 a0001c0001t0040 a0005c0016t0004	a0001c0001t0001g0199 a0001c0001t0002g0020 a0001c0001t0002g0315 others(4): Show a0001c0001t0001g0199 a0001c0001t0002g0020 a0001c0001t0002g0315 a0001c0001t0020g0252 a0001c0001t0029g0260 a0001c0001t0040g0198 a0005c0016t0004g0188	7	316	0.0222	217	c.133 others(238): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGGTAGT GGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGG GTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(210): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATATATGTACAGTATGTATACCGT ATACAGCATGTATACTGTATATATGTACAGTATGTATACCGTATACAGTA TGTATACCGTATACATATACAGTATGTATACCGTATACAGTATGTATACC GTATATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0138 a0001c0004t0004g0138	1	362	0.0028	217	c.-75 others(236): Show c.-75+17711_-75+17712insTACTGTGTATATATATACGGTATACA TACTGTATACGGTATACATACTGTATATGTATACGGTATACATACTGTAT ACGGTATACATACTGTACATATATACAGTATACATGCTGTATACGGTATA CATACTGTACATATATACAGTATACATGCTGTATACAGTATACATGCTGT ATACAGTATACATGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP3_chr1_247411173_247453817	247428182	G G	GAGGACAG others(210): Show GAGGACAGACTCTCACTGAAGCCCCGGTAGGAGGCTCAGCAACCATTTCT CTAGATAGCACCTTCCTTCCTCTGAGGACAGACTCTGATTGGAGCCCTGG CAGGGGGCTCAGCACCCATTTCTCTAGATAGCACCTTCCTTCCTCTGAGG ACAGACTCTCACTGAAGCCCCGGTAGGAGGCTCAGCACCCATTTCTCTAG ATAGCACCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG03471.hp2 others(4): Show HG01891.hp2 HG02922.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0307 others(4): Show a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0307 a0001c0001t0001g0395 a0001c0001t0002g0193 a0001c0001t0003g0192 a0001c0001t0016g0196	7	440	0.0159	217	c.215 others(236): Show c.2151-1391_2151-1390insCACTGAAGCCCCGGTAGGAGGCTCAG CAACCATTTCTCTAGATAGCACCTTCCTTCCTCTGAGGACAGACTCTGAT TGGAGCCCTGGCAGGGGGCTCAGCACCCATTTCTCTAGATAGCACCTTCC TTCCTCTGAGGACAGACTCTCACTGAAGCCCCGGTAGGAGGCTCAGCACC CATTTCTCTAGATAGCACCTTCCTTCCTCAGGACAGACTCT	NLRP3	ENSG00000162711.18	transcript	ENST00000336119.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NLRP8_chr19_55942832_55993629	55993534	C C	CCTCCCCC others(210): Show CCTCCCCCACCTCTCCCCCCTCTCCCCCCCTCCCCCCTCCCCCCCTCCCC CCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0015 a0005c0031t0015	a0005c0031t0015g0024 a0005c0031t0015g0024	1	350	0.0029	217	c.56 others(228): Show c.5621_*5622insCTCCCCCACCTCTCCCCCCTCTCCCCCCCTCCCC CCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCC TCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4906		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149664	C C	CACACCAC others(210): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	294	0.0034	217	c.901 others(232): Show c.901+769_901+770insACACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(210): Show AAAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	208	0.0048	217	c.-10 others(238): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTCTTTCCTTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NUP93_chr16_56725129_56855286	56808306	T T	TATATAGT others(210): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA GTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp1 HG03209.hp2 others(2): Show HG02886.hp1 HG02970.hp1 HG03209.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0040 a0001c0002t0001 a0001c0002t0040	a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0099 others(2): Show a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0040g0097	5	378	0.0132	217	c.489 others(234): Show c.489+2684_489+2685insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATAGTTATATAACTATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808373	A A	ATAAAATA others(210): Show ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAA AATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAA AATATATAGTTATATAAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	378	0.0027	217	c.489 others(234): Show c.489+2743_489+2744insAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATATAGTTATATAACTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(210): Show TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA GTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATATA GTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	378	0.0027	217	c.489 others(234): Show c.489+2759_489+2760insATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATA TAAAATATATAGTTATATAACTATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(210): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA GTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02148.hp1 HG02293.hp1 others(1): Show HG01258.hp1 HG02148.hp1 HG02293.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0092 others(1): Show a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0092 a0001c0002t0001g0127	4	378	0.0106	217	c.489 others(234): Show c.489+2759_489+2760insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATAGTTATATAACTATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(210): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAAAGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAGGAGGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	296	0.0034	217	c.-20 others(226): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTC CTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTTCCTTCCTTCCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
ODF3_chr11_191761_205258	194726	A A	ATGGGGAC others(210): Show ATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCCACTCAAGGAGCACATGTGTGAAAGTCCCCCACAGAGGGA CACACAAATGGGGACATCAGGAACACACTCGGGGCCACAGCCACACACAC AGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCAAAAGTCCC CACAGAGGGGCACACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	388	0.0026	217	c.-23 others(228): Show c.-2329_-2328insTGGGGACATCAGGAACACAGGGCCACAGCCACAC ACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACATGTGTGAAAG TCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCGGGGC CACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCAC ACGTGCAAAAGTCCCCACAGAGGGGCACACAAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		2034		chr11	TogoVar
ODF3_chr11_191761_205258	194833	A A	ATGGGGAC others(210): Show ATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCCCCACAGAGGGA CACACAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACAC AGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCC CACAGAGGGGCACACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG01433.hp1 others(25): Show HG00642.hp2 HG01243.hp1 HG01433.hp1 HG01884.hp1 HG01943.hp1 HG02055.hp1 HG02055.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0012 a0001c0001 a0001c0002 a0010c0012	a0001c0001t0001 a0001c0002t0001 a0010c0012t0001 a0001c0001t0001 a0001c0002t0001 a0010c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0002t0001g0010 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0002t0001g0010 a0010c0012t0001g0005	28	388	0.0722	217	c.-22 others(228): Show c.-2222_-2221insTGGGGACATCAGGAACACAGGGCCACAGCCACAC ACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACATGTGCGAAAG TCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCAGGGC CACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCAC ACGTGCGAAAGTCCCCACAGAGGGGCACACAAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1927		chr11	TogoVar
OR11H4_chr14_20234286_20249349	20237780	T T	TAGTATAT others(210): Show TAGTATATATACTATATAGTACATATAGTATATATAGTATATATAGTATA TAGTACATATAGTATATATAGTATATATAGTATATAGTACATATAGTATA TATAGTATATATAGTATATAGTATATATTTTATAGTATATATAGTATATA TACTATATAGTATATATTATATAGTATATATACTATAAAGTACATAATTT ATATATTACATATAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	439	0.0023	217	c.-15 others(228): Show c.-1563_-1562insAGTATATATACTATATAGTACATATAGTATATAT AGTATATATAGTATATAGTACATATAGTATATATAGTATATATAGTATAT AGTACATATAGTATATATAGTATATATAGTATATAGTATATATTTTATAG TATATATAGTATATATACTATATAGTATATATTATATAGTATATATACTA TAAAGTACATAATTTATATATTACATATAATAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1505		chr14	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(210): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATAATATATATTAT ATAATATAATATATTTTATTATATAAATATATATTATATTATATAATATA ATATATATTAATATAAATATATATTATATTATATAATATAATATATTTTA TTATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01943.hp2 HG01978.hp2 others(10): Show HG01099.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02056.hp2 HG04115.hp2 NA18939.hp2 NA18947.hp2 NA18959.hp2 NA18985.hp2 NA18999.hp1 NA19011.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0070	13	227	0.0573	217	c.-55 others(232): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATAATATATTTTATTATATAAATATATATTATATTATATAATATAATAT ATATTAATATAAATATATATTATATTATATAATATAATATATTTTATTAT ATAAATATATATTATATTATATAATATAATATATATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(210): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATAATATATTTTAT TATATAAATATATATTATATTATATAATATAATATATATTAATATAAATA TATATTATATTATATAATATAATATATATAATATAATATAATATATTTTA TTATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	227	0.0044	217	c.-55 others(232): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATTTTATTATA TAAATATATATTATATTATATAATATAATATATATTAATATAAATATATA TTATATTATATAATATAATATATATAATATAATATAATATATTTTATTAT ATAAATATATATTATATTATATAATATAATATATATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TATATTAT others(210): Show TATATTATATATATTATATATATTATATATATTATATATAATATATATTA TATATAATATATATAATATATATTATATATAATATATATTATATATATAA TATATATTATATATATTATATATAATATATATTATATATAATATATATAA TATATATTATATATAATATATATTATATATAATATATATAATATATATTA TATATATTATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	217	c.-23 others(228): Show c.-2357_-2356insTATAATATATAATATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATTATATATATTATATA TAATATATATTATATATAATATATATAATATATATTATATATATAATATA TATTATATATAATATATATTATATATATTATATATAATATATATTATATA TAATATATATAATATATATAATATATATAATAT	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(210): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCT CCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18951.hp2 NA18963.hp1 others(1): Show NA18941.hp1 NA18951.hp2 NA18963.hp1 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0021 a0002c0002t0002 a0002c0002t0021	a0002c0002t0002g0041 a0002c0002t0021g0010 a0002c0002t0021g0060 others(1): Show a0002c0002t0002g0041 a0002c0002t0021g0010 a0002c0002t0021g0060 a0002c0002t0021g0079	4	308	0.0130	217	c.226 others(236): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTC CTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTC CACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCC TTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(210): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTCC CCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCT CCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18939.hp1 HG00597.hp2 NA18939.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0056 a0002c0002t0002g0203 a0001c0001t0002g0056 a0002c0002t0002g0203	2	308	0.0065	217	c.226 others(236): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCT CCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCC TTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARD3B_chr2_204540475_205625162	204648652	A A	AATATATT others(210): Show AATATATTTATAATATATATCATATAAATAATATATATTTATAATATATA TCATATAAATAATATATATTTATAATATATATCATATAAATAATATATAT TTATAATATATATCATATAAATAATATATATTTATAATATATATCATATA AATAATATATATTTATAATATATATCATATAAATAATATATATTTATAAT ATATATCATATAAATAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0029 a0002c0002t0004g0029	1	54	0.0185	217	c.121 others(236): Show c.121-37453_121-37452insTATATCATATAAATAATATATATTTA TAATATATATCATATAAATAATATATATTTATAATATATATCATATAAAT AATATATATTTATAATATATATCATATAAATAATATATATTTATAATATA TATCATATAAATAATATATATTTATAATATATATCATATAAATAATATAT ATTTATAATATATATCATATAAATAATATATATTTATAATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARPBP_chr12_102115183_102202520	102190811	T T	TAAGTATA others(210): Show TAAGTATATTTGAATGTTAATCAGTGCTTGAAATAGTTTATATTATAATT ATAATTTGAATTTAATTATAAATTTATAATAAATTATTAATATTAAAATT AAATAATTATTTATAATTTAAATTTTTATATTAATTATTATTTTAAAATA TTATTAATATATTTTAATTATTAAAAATATATTAAAATTAAAATTAAAAA ATTTTTAAAAATTAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0103	1	344	0.0029	217	c.126 others(236): Show c.1264-4500_1264-4499insAGTATATTTGAATGTTAATCAGTGCT TGAAATAGTTTATATTATAATTATAATTTGAATTTAATTATAAATTTATA ATAAATTATTAATATTAAAATTAAATAATTATTTATAATTTAAATTTTTA TATTAATTATTATTTTAAAATATTATTAATATATTTTAATTATTAAAAAT ATATTAAAATTAAAATTAAAAAATTTTTAAAAATTAAAAAA	PARPBP	ENSG00000185480.12	transcript	ENST00000327680.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
PASD1_chrX_151558675_151681739	151562916	C C	CGGGGGGT others(210): Show CGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGG CGGGGGGGGGCGGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGCG GGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGC GGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGG GGGGGGGCGGGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	221	0.0045	217	c.-95 others(226): Show c.-951_-950insGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAG CTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGGGCGGGGGGGCGGGGGGG GGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGCGGG GGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGG GCGGGGGGGCGGGGGGGGGGCGGGGGGGCGG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		758		chrX	TogoVar
PCDH15_chr10_53797771_54806231	54332312	A A	AATATAAT others(210): Show AATATAATATAATCTATATTATATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATCTATATTATATATTATTATATATAA TATAATCTATATTATATATTATTATATATAATATAATCTATATTATATAT TATTATATATAATATAATCTATATTATATATTATTATATATAATATAATC TATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0036 a0005c0005t0005g0036	1	102	0.0098	217	c.595 others(234): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATATAA TAATATATAATATAGATTATATTATATATAATAATATATAATATAGATTA TATTATATTATATATAATATAATATAGATTATATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332312	A A	AATATAAT others(210): Show AATATAATATAATCTATATTATATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATCTATATTATATATTATTATATATAA TATAATCTATATTATATATTATTATATATAATATAATCTATATTATATAT TATTATATATAATATAATCTATATTATATATTATTATATATAATATAATC TATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0033 a0005c0009t0001g0033	1	94	0.0106	217	c.595 others(234): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATATAA TAATATATAATATAGATTATATTATATATAATAATATATAATATAGATTA TATTATATTATATATAATATAATATAGATTATATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PCGF3_chr4_700832_775089	707700	C C	CCGGGACC others(210): Show CCGGGACCCTGGGACAGCTCTGTTTTCCCCTGGGGGTCGGGACCCTGAGA CAGCTCTGTTTTCACCCGGGGGGTCGGGACCCTGAGACAGCTCTGTTTTC ACCCGGGGGTCGGGACCCTGGGACAGCCCTGTTTTCCCCTGGGGGCCGGG ACCCTGAGACAGCTCTGTTTTCCCCTGGGGGCCGGGACCCTGGGACAGCC CTGTTTTCACCCGGGGGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0075 a0001c0001t0063g0075	1	366	0.0027	217	c.-19 others(236): Show c.-190+1740_-190+1741insGGACAGCTCTGTTTTCCCCTGGGGGT CGGGACCCTGAGACAGCTCTGTTTTCACCCGGGGGGTCGGGACCCTGAGA CAGCTCTGTTTTCACCCGGGGGTCGGGACCCTGGGACAGCCCTGTTTTCC CCTGGGGGCCGGGACCCTGAGACAGCTCTGTTTTCCCCTGGGGGCCGGGA CCCTGGGACAGCCCTGTTTTCACCCGGGGGTCGGGACCCTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	716088	C C	CGGTGCTG others(210): Show CGGTGCTGGAACCCTGTAGACACTGTGAGTGTGAGAACTGGGCGTCTGTG CTGGGACCCTATAGACACTGAGTGGGAGAACTGGGCGTCGGTGCTGGGAC CCTGTAGACACTGAGTGTGAGAACTGGGCGTGGGTGCTGGGACCCTGTAG ACACTGAGGGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGA GTGTGAGAACTGGGCGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(63): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02698.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp2 NA18982.hp1 NA18990.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0059 a0001c0001t0061 a0001c0001t0064 a0002c0002t0003 a0002c0002t0007 a0002c0002t0045 a0002c0002t0046 a0002c0002t0048 a0002c0002t0049 a0002c0002t0051 a0002c0002t0053 a0003c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 others(63): Show a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0013 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0065 a0001c0001t0004g0015 a0001c0001t0012g0008 a0001c0001t0012g0016 a0001c0001t0013g0012 a0001c0001t0014g0025 a0001c0001t0014g0026 a0001c0001t0014g0027 a0001c0001t0022g0011 a0001c0001t0022g0032 a0001c0001t0027g0009 a0001c0001t0028g0023 a0001c0001t0028g0024 a0001c0001t0033g0067 a0001c0001t0035g0046 a0001c0001t0038g0010 a0001c0001t0047g0022 a0001c0001t0050g0014 a0001c0001t0052g0037 a0001c0001t0059g0018 a0001c0001t0061g0006 a0001c0001t0064g0028 a0002c0002t0003g0019 a0002c0002t0003g0021 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0048 a0002c0002t0003g0058 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0007g0049 a0002c0002t0045g0057 a0002c0002t0046g0005 a0002c0002t0048g0047 a0002c0002t0049g0030 a0002c0002t0051g0031 a0002c0002t0053g0059 a0003c0008t0001g0050	66	366	0.1803	217	c.-19 others(238): Show c.-190+10126_-190+10127insAACCCTGTAGACACTGTGAGTGTG AGAACTGGGCGTCTGTGCTGGGACCCTATAGACACTGAGTGGGAGAACTG GGCGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTGG GTGCTGGGACCCTGTAGACACTGAGGGTGAGAACTGGGCGTCGGTGCTGG GACCCTGTAGACACTGAGTGTGAGAACTGGGCGTGGGTGCTGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE11A_chr2_177618244_178077777	177811517	T T	TAGTCACT others(210): Show TAGTCACTCCAATTTTTTTTTTCTCTTTTTTTTATTATACTTTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAACTCATCATCTAGCATTAGGTATATCT CCCAATGCTACCCCTCCCCCCTCCCCCCACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0082 a0002c0002t0006g0082	1	170	0.0059	217	c.173 others(236): Show c.1737+5311_1737+5312insCAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTGGGGGGAGGGGGGAGGGGTAGCATTGGGAGATATAC CTAATGCTAGATGATGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAAAAAAAAGAGAAAAAAAAAATTGGAGTGACT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177811517	T T	TAGTCACT others(210): Show TAGTCACTCCAATTTTTTTTTTCTTTTTTTTTTATTATACTTTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAACTCATCATCTAGCATTAGGTATATCT CCCAATGCTACCCCTCCCCCCTCCCCCCACCACACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0061 a0007c0028t0061	a0007c0028t0061g0025 a0007c0028t0061g0025	1	170	0.0059	217	c.173 others(236): Show c.1737+5311_1737+5312insCAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGTGGTGGGGGGAGGGGGGAGGGGTAGCATTGGGAGATATAC CTAATGCTAGATGATGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAAAAAAAAAAGAAAAAAAAAATTGGAGTGACT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177811517	T T	TAGTCACT others(210): Show TAGTCACTCCAATTTTTTTTTTCTTTTTTTTTTATTATACTTTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAACTCATCATCTAGCATTAGGTATATCT CCCAATGCTACCCCTCCCCCCTCCCCCCACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00621.hp2 others(77): Show HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01978.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18966.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0011	a0001c0001 a0001c0005 a0001c0010 others(9): Show a0001c0001 a0001c0005 a0001c0010 a0001c0024 a0002c0002 a0003c0008 a0004c0012 a0004c0021 a0006c0013 a0007c0025 a0008c0022 a0011c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(45): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0033 a0001c0001t0046 a0001c0001t0054 a0001c0001t0063 a0001c0001t0067 a0001c0005t0026 a0001c0010t0002 a0001c0010t0005 a0001c0010t0008 a0001c0024t0017 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0012 a0002c0002t0019 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0043 a0003c0008t0013 a0004c0012t0009 a0004c0021t0009 a0006c0013t0001 a0006c0013t0038 a0007c0025t0048 a0008c0022t0019 a0011c0023t0012	a0001c0001t0002g0058 a0001c0001t0002g0079 a0001c0001t0002g0089 others(77): Show a0001c0001t0002g0058 a0001c0001t0002g0079 a0001c0001t0002g0089 a0001c0001t0003g0049 a0001c0001t0003g0138 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0005g0085 a0001c0001t0007g0052 a0001c0001t0007g0115 a0001c0001t0008g0030 a0001c0001t0008g0148 a0001c0001t0010g0059 a0001c0001t0010g0154 a0001c0001t0011g0037 a0001c0001t0013g0020 a0001c0001t0013g0034 a0001c0001t0014g0051 a0001c0001t0014g0063 a0001c0001t0015g0038 a0001c0001t0016g0090 a0001c0001t0017g0095 a0001c0001t0018g0043 a0001c0001t0021g0027 a0001c0001t0021g0040 a0001c0001t0022g0057 a0001c0001t0023g0086 a0001c0001t0024g0081 a0001c0001t0025g0096 a0001c0001t0025g0103 a0001c0001t0026g0067 a0001c0001t0031g0078 a0001c0001t0033g0072 a0001c0001t0046g0041 a0001c0001t0054g0050 a0001c0001t0063g0087 a0001c0001t0067g0024 a0001c0005t0026g0019 a0001c0010t0002g0022 a0001c0010t0005g0035 a0001c0010t0008g0061 a0001c0024t0017g0044 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0064 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0094 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0135 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0070 a0002c0002t0004g0077 a0002c0002t0006g0026 a0002c0002t0006g0083 a0002c0002t0012g0102 a0002c0002t0012g0144 a0002c0002t0019g0054 a0002c0002t0034g0046 a0002c0002t0035g0021 a0002c0002t0036g0036 a0002c0002t0037g0065 a0002c0002t0043g0074 a0003c0008t0013g0167 a0004c0012t0009g0053 a0004c0021t0009g0105 a0006c0013t0001g0068 a0006c0013t0038g0104 a0007c0025t0048g0097 a0008c0022t0019g0069 a0011c0023t0012g0039	80	170	0.4706	217	c.173 others(236): Show c.1737+5311_1737+5312insCAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTGGGGGGAGGGGGGAGGGGTAGCATTGGGAGATATAC CTAATGCTAGATGATGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAAAAAAAAAAGAAAAAAAAAATTGGAGTGACT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177811517	T T	TAGTCACT others(210): Show TAGTCACTCCAATTTTTTTTTTCTTTTTTTTTTATTATACTTTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAACTCATCATCTAGCATTAGGTATATCT CCCAATGCTACCCCTCCCCCCTCCCCCCACCCCACTACAGTCCCCAGAGT GTGATATTCCCCTTCCTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03516.hp1 HG03516.hp2 others(1): Show HG00735.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0060 a0001c0005t0015 a0001c0005t0047 others(1): Show a0001c0001t0060 a0001c0005t0015 a0001c0005t0047 a0001c0005t0064	a0001c0001t0060g0080 a0001c0005t0015g0012 a0001c0005t0047g0018 others(1): Show a0001c0001t0060g0080 a0001c0005t0015g0012 a0001c0005t0047g0018 a0001c0005t0064g0016	4	170	0.0235	217	c.173 others(236): Show c.1737+5311_1737+5312insCAGGAAGGGGAATATCACACTCTGGG GACTGTAGTGGGGTGGGGGGAGGGGGGAGGGGTAGCATTGGGAGATATAC CTAATGCTAGATGATGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAAAAAAAAAAGAAAAAAAAAATTGGAGTGACT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177811517	T T	TAGTCACT others(210): Show TAGTCACTCCAATTTTTTTTTTCTTTTTTTTTTATTATACTTTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAACTCATCATCTAGCATTAGGTATGTCT CCCAATGCTACCCCTCCCCCCTCCCCCCACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02486.hp2 others(7): Show HG02109.hp1 HG02486.hp1 HG02486.hp2 HG02818.hp1 HG02896.hp2 HG02970.hp1 HG03041.hp1 HG03540.hp1 HG03579.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0005 a0002c0034 others(3): Show a0001c0001 a0001c0005 a0002c0034 a0003c0008 a0004c0012 a0012c0031	a0001c0001t0005 a0001c0001t0008 a0001c0005t0053 others(7): Show a0001c0001t0005 a0001c0001t0008 a0001c0005t0053 a0001c0005t0065 a0002c0034t0006 a0003c0008t0010 a0003c0008t0017 a0003c0008t0050 a0004c0012t0009 a0012c0031t0001	a0001c0001t0005g0152 a0001c0001t0008g0084 a0001c0005t0053g0015 others(7): Show a0001c0001t0005g0152 a0001c0001t0008g0084 a0001c0005t0053g0015 a0001c0005t0065g0017 a0002c0034t0006g0169 a0003c0008t0010g0166 a0003c0008t0017g0162 a0003c0008t0050g0163 a0004c0012t0009g0088 a0012c0031t0001g0164	10	170	0.0588	217	c.173 others(236): Show c.1737+5311_1737+5312insCAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTGGGGGGAGGGGGGAGGGGTAGCATTGGGAGACATAC CTAATGCTAGATGATGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAAAAAAAAAAGAAAAAAAAAATTGGAGTGACT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177811517	T T	TAGTCACT others(210): Show TAGTCACTCCAATTTTTTTTTTCTTTTTTTTTTATTATACTTTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAACTCTTCATCTAGCATTAGGTATATCT CCCAATGCTACCCCTCCCCCCTCCCCCCACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02572.hp1 HG02717.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0004c0016 a0001c0005 a0004c0016	a0001c0005t0002 a0004c0016t0009 a0001c0005t0002 a0004c0016t0009	a0001c0005t0002g0010 a0004c0016t0009g0009 a0001c0005t0002g0010 a0004c0016t0009g0009	2	170	0.0118	217	c.173 others(236): Show c.1737+5311_1737+5312insCAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTGGGGGGAGGGGGGAGGGGTAGCATTGGGAGATATAC CTAATGCTAGATGAAGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAAAAAAAAAAGAAAAAAAAAATTGGAGTGACT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(210): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAA AAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp2 NA18999.hp1 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0001 a0002c0009t0001 a0002c0002t0001 a0002c0009t0001	a0002c0002t0001g0230 a0002c0009t0001g0192 a0002c0002t0001g0230 a0002c0009t0001g0192	2	342	0.0059	217	c.20- others(232): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741200	G G	GGGGGGCT others(210): Show GGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTC GCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAGGGGG GCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	358	0.0028	217	c.143 others(232): Show c.143-462_143-461insCTCGCGGGGGGCTCGCAGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCAGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCAGGG GGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977444	C C	CCAACCCG others(210): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCC TGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0096 a0001c0030t0001g0096	1	408	0.0025	217	c.215 others(234): Show c.2150-821_2150-820insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCC GGGGTTGGTGGGGGGGAGTGGGAGGCGGTTCCCGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(210): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	408	0.0025	217	c.215 others(234): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(210): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC CGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19059.hp2 NA18974.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0176 a0001c0001t0001g0127 a0001c0001t0001g0176	2	408	0.0049	217	c.215 others(234): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKP_chr10_3062548_3141802	3085763	A A	AGTCCCCC others(210): Show AGTCCCCCACTCCACTCTCCAGCACAGTGCCCCCCTCTACTCTCCAGCAC AGTCCCCCAATCCCTCCCCAGCACAGTCCCCCACCCCATCCCCAGCACAG TCCTCCAACTCTCCCCAGCACAGTCTTCCACTCCACTCCAGGACAGTCCT CCACTCCACTCTCCAGCACAGTCCTCCACCCCATCCCTAGCACAGTCCTC CACCCCATCCCCAGCACT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0145	1	402	0.0025	217	c.186 others(234): Show c.186+3306_186+3307insCCCACTCCACTCTCCAGCACAGTGCCCC CCTCTACTCTCCAGCACAGTCCCCCAATCCCTCCCCAGCACAGTCCCCCA CCCCATCCCCAGCACAGTCCTCCAACTCTCCCCAGCACAGTCTTCCACTC CACTCCAGGACAGTCCTCCACTCCACTCTCCAGCACAGTCCTCCACCCCA TCCCTAGCACAGTCCTCCACCCCATCCCCAGCACTGTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(210): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCAC CCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCT GCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCACCC CTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGC CCCTCTCCTCACCCCTGC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0285 a0001c0005t0006g0285	1	402	0.0025	217	c.775 others(232): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCT TCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGC CCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGC CGCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHRF1_chr11_571470_617222	589898	T T	TGGAGCGT others(210): Show TGGAGCGTGCAGGGTTCAGCCTGAGAGGGTGTCTGCAAACGGGCACGGAG CGTGCGGGGCTCAGCCTGAGAGTCTGCAAACGGGCACGGAGCGTGTGGGG CTCAGCCTCAGAGAGTGTCTGCAAACGGGCATGGAGCGTGCGGGGCTCAG CCTGAGAATGTCTGCAAACGGGCATGGAGCGTGCGGGGCTCAGCCTGAGA ATGTGTGCAAACGGGCAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0090 a0010c0019t0001g0090	1	279	0.0036	217	c.421 others(234): Show c.421-1366_421-1365insCAAACGGGCATGGAGCGTGCGGGGCTCA GCCTGAGAATGTCTGCAAACGGGCATGGAGCGTGCGGGGCTCAGCCTGAG AATGTGTGCAAACGGGCACGGAGCGTGCAGGGTTCAGCCTGAGAGGGTGT CTGCAAACGGGCACGGAGCGTGCGGGGCTCAGCCTGAGAGTCTGCAAACG GGCACGGAGCGTGTGGGGCTCAGCCTCAGAGAGTGTCTG	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PITPNM3_chr17_6446263_6561555	6561106	C C	CTCTCCTC others(210): Show CTCTCCTCTTCATTCTCCCCTCCTCCTCCTCTTCCTCCTCCTTCTCCTTC CTCTCTCCTCTCCTCTTCATTCTCCCCTCCTCCTCCTCTTCCCCTCCTTC TCCCTCCTCTGCCTCCTTCTCCTCTTCTTTCTCCCCTCCTCCTCTTCCTC CTTCTCCCCTCCTCCTCTTCCTCATCCTCCTTCCCCTCCTCTTCCTCCTT CTCATCCTCCTTCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0134 a0001c0001t0048g0134	1	218	0.0046	217	c.-47 others(228): Show c.-4701_-4700insAGAGGGAAGGAGGATGAGAAGGAGGAAGAGGAGG GGAAGGAGGATGAGGAAGAGGAGGAGGGGAGAAGGAGGAAGAGGAGGAGG GGAGAAAGAAGAGGAGAAGGAGGCAGAGGAGGGAGAAGGAGGGGAAGAGG AGGAGGAGGGGAGAATGAAGAGGAGAGGAGAGAGGAAGGAGAAGGAGGAG GAAGAGGAGGAGGAGGGGAGAATGAAGAGGAGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4552		chr17	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGAAGGGA others(210): Show GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	306	0.0033	217	c.349 others(236): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314991	G G	GGAAGGGA others(210): Show GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	306	0.0033	217	c.349 others(236): Show c.349+14219_349+14220insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar

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