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
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(394): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATATAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAT AATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	117	0.0085	401	c.51 others(412): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTATATATAATATATATTATATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTATATATAATATATATTATATATAATATAATATATATTATAT ATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905919	A A	ATATAATA others(394): Show ATATAATATATATTATATATAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATAATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTATATAAAATATATATTATATTATATATAATATATATT ATATAAAATATATATTATATTATATAATATATATTATATAAAATATATAT TATATTATATATAATATATATTTTATAAAATATATATTATATTATATAAT ATATATTTTATAAAATATATATTATATTATATATAATATATATTATATAA AATATATATTATATTATATAATATATATTATATAAAATATATATTATATT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	356	0.0028	401	c.51 others(412): Show c.5157_*5158insATAATATAATATATATTTTATATAATATATATTA TATAATATAATATATATTTTATATAATATATATTATATATAATATAATAT ATATTTTATAAAATATATATTATATAATATAATATATATTTTATAAAATA TATATTATATATAATATAATATATATTTTATATAATATATATTATATAAT ATAATATATATTTTATATAATATATATTATATATAATATAATATATATTT TATATAATATATATTATATATAATATAATATATATTTTATATAATATATA TTATATATAATATAATATATATTTTATATAATATATATTATATTATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTAT ATATAATATATATTATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4925		chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(394): Show GTGGTGGTGGTGGCGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGCGG CGGTGGCAGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGC GGCGGTGGCAGTAGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTG GTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGT GCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGT TC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	4	0.2500	401	c.160 others(418): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATC ACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCGCCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYNN_chr3_169768396_169794716	169771235	A A	ATATAAAA others(394): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	339	0.0029	401	c.-22 others(412): Show c.-2259_-2258insTATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2160		chr3	TogoVar
NFATC1_chr18_79390930_79534323	79532223	G G	GCCCCCCG others(394): Show GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0046 a0001c0055t0046	a0001c0055t0046g0008 a0001c0055t0046g0008	1	318	0.0031	401	c.46 others(412): Show c.4646_*4647insCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2901		chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(394): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC TGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0280 a0001c0007t0001g0280	1	118	0.0085	401	c.-75 others(420): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATG TATACTGTATACATACTGCATACACAGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACATACAGTATACATACATACAGTATACATACATACAGTATACATGCT GTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397652	C C	CGGGGTGG others(394): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGG TGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	342	0.0029	401	c.91+ others(414): Show c.91+357_91+358insGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGGT GAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(394): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACC CCCAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC AC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	110	0.0091	401	c.902 others(416): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCCAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(394): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCAC CCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTC CCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATC CCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCT CTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCCCGTCCCACCCC TAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACCCCTCCTCCCTC TT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	4	0.2500	401	c.270 others(416): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCC CTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACG CCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCC TCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCT GCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTG CCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTG CACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(394): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGT GGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19064.hp1 HG00558.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0233 a0001c0001t0007g0232 a0001c0001t0003g0233 a0001c0001t0007g0232	2	207	0.0097	401	c.140 others(418): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCGGGAGGG ATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPRL3_chr16_80386_143673	81914	G G	GCTGACCC others(394): Show GCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGC TCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCC TGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAA GCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCA CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	316	0.0032	401	c.47 others(412): Show c.4790_*4791insTGTGGGGAGCATTCAGGAGGGCTTCCTGGAGGTA GGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTC CCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGA GGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCA TTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTG GGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGC CAGCGTGGGGAGCATTCAGGAGGGCTTCCTGGAGGTAGGGTGGTGGGAAG AAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGG TGGGAAGAAGGGGTCAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3471		chr16	TogoVar
NR3C2_chr4_148073764_148447414	148366424	G G	GAAAAAGA others(394): Show GAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAATACTTTTTAAA AAGTACTTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTAAAAAGTACTTTTA AAAAGAATACTTTTTAAAAAGTACTTTTAAAAAGAATACTTTTTAAAAAG TACTTTTAAAAAGAATACTTTTAAAAAAGAATACTTTTTAAAAGTACTTT TAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAA AAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAA TACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTT TA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02132.hp2 HG02895.hp1 others(5): Show HG00621.hp2 HG02132.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 NA18950.hp2 NA19043.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0090 a0001c0001t0003g0129 a0001c0001t0003g0158 others(5): Show a0001c0001t0001g0090 a0001c0001t0003g0129 a0001c0001t0003g0158 a0001c0001t0004g0117 a0001c0001t0005g0074 a0001c0001t0005g0075 a0002c0002t0001g0026 a0002c0002t0001g0042	8	148	0.0541	401	c.175 others(422): Show c.1757+68679_1757+68680insTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTC TTTTTTAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTT AAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAGTAT TCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTACTTTT TAAAAAGTATTCTTTTTAAAAAGTACTTTTTAAAAAGTATTCTTTTTAAA AAGTACTTTTTAAAAAGTATTCTTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(394): Show TCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCCCACCCTCCCCTTCCCCTCCCCTCC CCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTT CCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCCTTCCCCTTCCCTCTCCCCTCCCCCTTCCCCTCCCCCTTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCT CC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0033 a0001c0001t0018g0033	1	30	0.0333	401	c.433 others(418): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AGAGGGAAGGGGAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGG GGAAGGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGAGGGTGGG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808131	A A	AAATATAT others(394): Show AAATATATAGTTACATAACTATATAAAATATATAGTTACGTAACTATATA AAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATA AAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATA AAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATA AAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATA AAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATA AAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATA AAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATAAA AT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0262 a0001c0003t0002g0262	1	318	0.0031	401	c.489 others(418): Show c.489+2500_489+2501insATATATAGTTACATAACTATATAAAATA TATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAATA TATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAATA TATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAATA TATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAATA TATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAATA TATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAATA TATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAATA TATAGTTACGTAACTATAAAATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
PALLD_chr4_168492052_168933441	168793366	C C	CATATATA others(394): Show CATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCA TATATATACATATATGTGTGCATATATATACATATATATGTGTGCATATA TATACATATATGTGTGCATATATATACATATATATGTGTGCATATATATA CATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACA TATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATA TATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATA TATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATA TGTGTGCATATATATACATATATATGTGTGCATATATATACATATATATG TG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0033 a0002c0006t0007g0033	1	136	0.0074	401	c.196 others(422): Show c.1964+81451_1964+81452insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATATGTGATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(394): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCC ATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGA CGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAG CGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCAC ACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGT GG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	187	0.0053	401	c.-16 others(420): Show c.-161-9013_-161-9012insTTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCCATTGACGTAGCGCACACGGTG GTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(394): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGAC ACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGC GAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTG TGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGA ACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGG GC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	304	0.0033	401	c.-19 others(422): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACAC TGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGA GTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTG AGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAAC TGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGC GTCGGTGCTGGGACCCTGTGGACACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(394): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGAC ACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGC GAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTG TGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGA ACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGG GC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	304	0.0033	401	c.-19 others(422): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACAC TGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGA GTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTG AGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAAC TGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGC GTCGGTGCTGGGACCCTGTGGACACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101311711	C C	CCCCTCAC others(394): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0224 a0001c0045t0001g0224	1	294	0.0034	401	c.269 others(420): Show c.2699+1664_2699+1665insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDXK_chr21_43714129_43767299	43741394	C C	CCGGGGGC others(394): Show CCGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCG CGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGGCTCGCGG GGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCCGGG GGCTCGCGGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGCGCTCGCGG GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0310 a0001c0001t0006g0310	1	249	0.0040	401	c.143 others(416): Show c.143-273_143-272insCGGGGGCTCGCGGGGGGGCTGGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGC TGGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGGCTCGCCGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGG GCTCGCGGGGCGCTCGCGGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10			chr21	TogoVar
PERM1_chr1_970198_987093	977444	C C	CCAACCCG others(394): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT GCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	295	0.0034	401	c.215 others(418): Show c.2150-821_2150-820insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTG GGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT GCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGG AGTGGGAGGCGGTTCCCGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(394): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGG AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	401	c.53 others(412): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAG AGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(394): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGGAAGAGGGGATGGGAGGGG AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	29	0.0345	401	c.53 others(412): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGGAAG AGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455732	G G	GGGGGAAG others(394): Show GGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGG GAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGA AGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAAGAGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	309	0.0032	401	c.53 others(412): Show c.5385_*5386insGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGG GGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAG ATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAG AGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGAT GGGAGGGGAAGAGGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4264		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(394): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGG AA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp1 HG02451.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0050 a0001c0001t0048 a0001c0001t0050	a0001c0001t0048g0063 a0001c0001t0050g0195 a0001c0001t0048g0063 a0001c0001t0050g0195	2	19	0.1053	401	c.262 others(416): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCT CCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCCC CCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCCC TCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(394): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAG GA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0033 a0033	a0033c0084 a0033c0084	a0033c0084t0006 a0033c0084t0006	a0033c0084t0006g0087 a0033c0084t0006g0087	1	41	0.0244	401	c.575 others(422): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCT CCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCT CCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(394): Show GAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAG GAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAGGAAG GA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0065 a0002c0065	a0002c0065t0007 a0002c0065t0007	a0002c0065t0007g0068 a0002c0065t0007g0068	1	41	0.0244	401	c.575 others(422): Show c.5751+20407_5751+20408insTCCTTCCTTCTTTCCTTCCTTTCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCT CCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCT CCCTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989907	G G	GGAAGGAA others(394): Show GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGA AA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0077 a0001c0010t0001g0077	1	125	0.0080	401	c.575 others(422): Show c.5751+20401_5751+20402insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCC CTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC CTCCCTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(394): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	58	0.0172	401	c.173 others(418): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCC GCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PNPLA7_chr9_137454952_137555402	137518738	C C	CCACTCCA others(394): Show CCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGCTCA CTCCATCCCCCACTCACTCGCTCCACTCTGTCCACTCCATCCCCCACTCA CTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCT CACTCCATCCCCCACTCACTCATTCCACTCTGTCCACTCCATCCTCACTC ACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTGT CCACTCCATCCCACACTCACTCACTCCACTCTGTCCACTCCATCCCTCAC TCACTCACTCCACTCTGTCCACTCCATCCCCACTCACTCACTCCACTCTG CT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18906.hp2 HG03225.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0171 a0002c0004t0001g0180 a0002c0004t0001g0171 a0002c0004t0001g0180	2	159	0.0126	401	c.108 others(420): Show c.1084+1178_1084+1179insAGCAGAGTGGAGTGAGTGAGTGGGGA TGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTG GAGTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGG GATGGAGTGAGCAGAGTGGAGTGAGTGAGTGAGGATGGAGTGGACAGAGT GGAATGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGG GGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGA GTGGAGCGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGACGG GGGATGGAGTGGACAGAGTGGAGTGAGTGGGGGATGGAGTGAGCAGAGTG GAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPM1L_chr3_160751231_161083902	160945046	A A	ATAACTAT others(394): Show ATAACTATATATAACATGTTATATATAACTATATATAACATGTTATATAT AACTATATATAACATGTTATATATAACTATATATAACATGTTATATATAA CTATATATAACATGTTATATATAACTATATATAACATGTTATATATAACT ATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTAT ATATAACATGTTATATATAACTATATATAACATGTTATATATAACTATAT ATAACATGTTATATATAACTATATATAACATGTTATATATAACTATATAT AACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA21309.hp1 NA19077.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0002 a0001c0001t0045	a0001c0001t0002g0204 a0001c0001t0045g0173 a0001c0001t0002g0204 a0001c0001t0045g0173	2	102	0.0196	401	c.400 others(420): Show c.400-16689_400-16688insAACTATATATAACATGTTATATATAA CTATATATAACATGTTATATATAACTATATATAACATGTTATATATAACT ATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTAT ATATAACATGTTATATATAACTATATATAACATGTTATATATAACTATAT ATAACATGTTATATATAACTATATATAACATGTTATATATAACTATATAT AACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TGTTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(394): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCT CTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTTG TATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTA GTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGC CACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATT AG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	20	0.0500	401	c.479 others(420): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTG ATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGC TCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCT GGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTG TTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTAT ATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(394): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCT CTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTT GTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTGCCAGGCTGGTCTCAAACTCCTGGCCTA GTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGC CACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATT AG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0034	1	20	0.0500	401	c.479 others(420): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT TTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTG ATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGC CTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGCCAGGCT GGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTG TTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTAT ATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(394): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCT CCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTC CG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0187 a0001c0001t0014g0187	1	159	0.0063	401	c.106 others(420): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(394): Show GAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAGAAAAA GAAAAAATTTATGCATATATATGTATACATATGCCAGAAAAACACTATGC TCTTTTATGTAACTGTTCGTATAACTGGATAATTACCAGGCCGGACGCAG TGGCTCACCCTTGTAAACCCAGCACTTTGGGAGGCAGAGGCGGGTGGATC AATTGAGGTCAGGAGTTCTAGACCAGCCTAGCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGTGCATGCCTGTA ATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAG GCAGAGGTTGCAGTGAGCCAAGACGGCACCACTGCACTCCAATCTGGGCA AC	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA20905.hp2 HG03831.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0113 a0001c0001t0001g0121	2	83	0.0241	401	c.-9- others(416): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCT CAGCCTCCTGAGTAGCTGAGATTACAGGCATGCACCACCACGCCCAGCTA CTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGG TCTAGAACTCCTGACCTCAATTGATCCACCCGCCTCTGCCTCCCAAAGTG CTGGGTTTACAAGGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTT ATACGAACAGTTACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATAC ATATATATGCATAAATTTTTTCTTTTTCTTTTTTTTCTTTTTTTTTTTTT TTTGAGACAGGGTCTCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36429271	C C	CAAAAAAA others(394): Show CAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAGAAAAAATTTATGCATATA TATGTATACATATGCCAGAAAAACACTATGCTCTTTTATGTAACTGTTCG TATAACTGGATAATTACCAGGCCGGACGCAGTGGCTCACCCTTGTAAACC CAGCACTTTGGGAGGCAGAGGCGGGTGGATCAATTGAGGTCAGGAGTTCT AGACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAGTAGCTGGGCGTGGTGGTGCATGCCTGTAATCTCAGCTACTCAGGAGG CTGAGGCAGGAGAATAGCTTGAGCCTGAGAGGCAGAGGTTGCAGTGAGCC AAGACGGCACCACTGCACTCCAATCTGGGCAACAGAGTGAGACCCTGTCT CA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp1 others(17): Show HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00735.hp1 HG01081.hp2 HG01099.hp2 HG01261.hp2 HG01516.hp1 HG01928.hp1 HG02080.hp1 HG02165.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG03669.hp1 HG03688.hp1 NA18964.hp2 NA19001.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(17): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0094	20	329	0.0608	401	c.-9- others(416): Show c.-9-3181_-9-3180insTGAGACAGGGTCTCACTCTGTTGCCCAGAT TGGAGTGCAGTGGTGCCGTCTTGGCTCACTGCAACCTCTGCCTCTCAGGC TCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCAT GCACCACCACGCCCAGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTGGCTAGGCTGGTCTAGAACTCCTGACCTCAATTGATCCACCC GCCTCTGCCTCCCAAAGTGCTGGGTTTACAAGGGTGAGCCACTGCGTCCG GCCTGGTAATTATCCAGTTATACGAACAGTTACATAAAAGAGCATAGTGT TTTTCTGGCATATGTATACATATATATGCATAAATTTTTTCTTTTTCTTT TTTTTCTTTTTTTTTTTTTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36429271	C C	CAAAAAAA others(394): Show CAAAAAAAAAAAAAAGAAAAAAAAGAAAAAGAAAAAATTTATGCATATAT ATGTATACATATGCCAGAAAAACACTATGCTCTTTTATGTAACTGTTCGT ATAACTGGATAATTACCAGGCCGGACGCAGTGGCTCACCCTTGTAAACCC AGCACTTTGGGAGGCAGAGGCGGGTGGATCAATTGAGGTCAGGAGTTCTA GACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAA AGTAGCTGGGCGTGGTGGTGCATGCCTGTAATCTCAGCTACTCAGGAGGC TGAGGCAGGAGAATAGCTTGAGCCTGAGAGGCAGAGGTTGCAGTGAGCCA AGACGGCACCACTGCACTCCAATCTGGGCAACAGAGTGAGACCCTGTCTC AA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	310	0.0032	401	c.-9- others(416): Show c.-9-3181_-9-3180insTTGAGACAGGGTCTCACTCTGTTGCCCAGA TTGGAGTGCAGTGGTGCCGTCTTGGCTCACTGCAACCTCTGCCTCTCAGG CTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCA TGCACCACCACGCCCAGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCATGTTGGCTAGGCTGGTCTAGAACTCCTGACCTCAATTGATCCACC CGCCTCTGCCTCCCAAAGTGCTGGGTTTACAAGGGTGAGCCACTGCGTCC GGCCTGGTAATTATCCAGTTATACGAACAGTTACATAAAAGAGCATAGTG TTTTTCTGGCATATGTATACATATATATGCATAAATTTTTTCTTTTTCTT TTTTTTCTTTTTTTTTTTTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
RAB11FIP3_chr16_420649_528011	492360	T T	TCCTCCCG others(394): Show TCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	234	0.0043	401	c.126 others(420): Show c.1265+3361_1265+3362insCTCCCGGGAGACCCGAGGCCGTCCAG AGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCGGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGG others(394): Show TCCCGGGGGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCG CCCAGAGCCCTCCCCGGGAGATCCGAGGCCGCCCAGAGCCCTCCCGGGAG ATCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	235	0.0043	401	c.126 others(420): Show c.1265+3369_1265+3370insGGACCCGAGGCCGCCCAGAGCCCTCC CGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGATCCGAGGCCGCC CAGAGCCCTCCCGGGAGATCCGAGGCCGCCCAGGGCCCTTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(394): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGG AGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGG GGAGACGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAG GAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAG GGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGG GAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp2 HG03239.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0010 a0001c0001t0001g0031	2	31	0.0645	401	c.36 others(412): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGACGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(394): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGG GGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0142 a0001c0004t0010g0142	1	5	0.2000	401	c.880 others(418): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGCCTCCCTCCCGGACGG GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGCTGATCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(394): Show AATATATATATTTAAATATATATATTAAAAATATATATATTTAAATATAT ATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATATATTAAT ATACATATTTTAATATATATAATTTAATATATATCTTTAAATATATATAA ATATATATTTAAATATATATATTTAAATATATATTAATATATATATTTAA AGATTATATATTAAATTATATATATTAAAATATGTATATTAATATATATT TAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATA TATATATTTTTAATATATATATTTTTAAATATATATATTTATATATATAT TTATATATATATATATTTATATATATATTTTTAAATATATATATATATAT TT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0072 a0001c0003t0002g0072	1	6	0.1667	401	c.182 others(418): Show c.182-2703_182-2702insTATATATATTAAAAATATATATATTTAA ATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATAT ATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAATAT ATATAAATATATATTTAAATATATATATTTAAATATATATTAATATATAT ATTTAAAGATTATATATTAAATTATATATATTAAAATATGTATATTAATA TATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATT TAAATATATATATTTTTAATATATATATTTTTAAATATATATATTTATAT ATATATTTATATATATATATATTTATATATATATTTTTAAATATATATAT ATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(394): Show AATATATATATTTAAATATATATATTAAAAATATATATATTTAAATATAT ATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATATATTAAT ATACATATTTTAATATATATAATTTAATATATATCTTTAAATATATATAA ATATATATTTAAATATATATATTTAAATATATATTAATATATATATTTAA AGATTATATATTAAATTATATATATTAAAATATGTATATTAATATATATT TAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATA TATATATTTTTAATATATATATTTTTAAATATATATATTTATATATATAT TTTTATATATATATATATTTATATATATATTTTTAAATATATATATATAT TT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0073 a0001c0003t0002g0073	1	6	0.1667	401	c.182 others(418): Show c.182-2703_182-2702insTATATATATTAAAAATATATATATTTAA ATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATAT ATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAATAT ATATAAATATATATTTAAATATATATATTTAAATATATATTAATATATAT ATTTAAAGATTATATATTAAATTATATATATTAAAATATGTATATTAATA TATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATT TAAATATATATATTTTTAATATATATATTTTTAAATATATATATTTATAT ATATATTTTTATATATATATATATTTATATATATATTTTTAAATATATAT ATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(394): Show AATATATATATTTAAATATATATATTAAAAATATATATATTTAAATATAT ATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATATATTAAT ATACATATTTTAATATATATAATTTAATATATATCTTTAAATATATATAA ATATATATTTAAATATATATATTTAAATATATATTAATATATATATTTAA AGATTATATATTAAATTATATATATTAAAATATGTATATTAATATATATT TAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATA TATATATTTTTAATATATATATTTTTAAATATATATATTTATATATATAT TTTTATATATATATATTTATATATATATTTTTAAATATATATATATATAT TT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01975.hp2 HG02602.hp2 others(21): Show HG00597.hp1 HG01975.hp2 HG02602.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG04204.hp1 NA18940.hp2 NA18950.hp2 NA18951.hp1 NA18964.hp2 NA18966.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0070 a0001c0003t0002g0081 a0001c0003t0002g0003 a0001c0003t0002g0070 a0001c0003t0002g0081	24	29	0.8276	401	c.182 others(418): Show c.182-2703_182-2702insTATATATATTAAAAATATATATATTTAA ATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATAT ATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAATAT ATATAAATATATATTTAAATATATATATTTAAATATATATTAATATATAT ATTTAAAGATTATATATTAAATTATATATATTAAAATATGTATATTAATA TATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATT TAAATATATATATTTTTAATATATATATTTTTAAATATATATATTTATAT ATATATTTTTATATATATATATTTATATATATATTTTTAAATATATATAT ATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RSPH1_chr21_42467486_42501224	42477224	T T	TCCCACAG others(394): Show TCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGC CCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTG CCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACC CTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCC CTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGG GGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCC ACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCT GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCC AC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	179	0.0056	401	c.727 others(414): Show c.727+66_727+67insGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCG GGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGA GTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG GCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCAT CCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCT GTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGG AGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAG AGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGG GGCACCCCCGGGCTGTGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477239	G G	GTGCCCCA others(394): Show GTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCAC ACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGC CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGC CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC TCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCA CAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGG GA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	393	0.0025	401	c.727 others(414): Show c.727+51_727+52insTCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC TGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG GAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGGCA GAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTG GGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCC CGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTG GAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGG GGGCAGAGGGTGTGGGGCA	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(394): Show TTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGG GG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0218 a0001c0001t0005g0218	1	136	0.0074	401	c.464 others(414): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTG GGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGG GTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(394): Show CATATATATATTCCATATATATATATTCCATATATATATTCCATATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATT CCATATATATATATTCCCTATATATATATTCCATATATATATATTCCCTA TATATATATTCCATATATATATATTCCCTATATATATATTCCCTATATAT ATATTCCATATATATATATTCCATATATATATTCCATATATATATATTCC ATATATATATATTTCATATATATATATTCCATATATATATTCCATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATATATATATATTCCATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	39	0.0256	401	c.115 others(418): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGA ATATATATATATGGAATATATATATAGGGAATATATATATATGGAATATA TATATAGGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATGGAAT ATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(394): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	67	0.0149	401	c.43 others(412): Show c.4343_*4344insGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAG CGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCG GGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(394): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACC CCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01517.hp2 HG00323.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0083 a0001c0001t0001g0004 a0001c0001t0001g0083	2	68	0.0294	401	c.43 others(412): Show c.4343_*4344insGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGC GGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGT GTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGA GCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCG GGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar

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