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
NKX1-1_chr4_1397932_1411442	1398328	G G	GGTAGATC others(218): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTCTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCAGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18747.hp2 NA18971.hp2 others(2): Show HG00408.hp2 NA18747.hp2 NA18971.hp2 NA18983.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	5	382	0.0131	225	c.46 others(236): Show c.4603_*4604insTCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAGAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4603		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398448	G G	GGGCATCT others(218): Show GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATACAGGGTGCTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA19080.hp1 NA18945.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	2	382	0.0052	225	c.44 others(236): Show c.4483_*4484insTGAAAGCACCCTGTATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4483		chr4	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(218): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	294	0.0034	225	c.902 others(240): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(218): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCCTAC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0012 a0001c0006t0001g0012	1	294	0.0034	225	c.902 others(240): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(218): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCGCTCATAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0288 a0001c0003t0001g0288	1	294	0.0034	225	c.902 others(240): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCCTACCA others(218): Show TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	294	0.0034	225	c.902 others(240): Show c.902-965_902-964insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NSL1_chr1_212721153_212796777	212779803	G G	GACCAGCC others(218): Show GACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCG GCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG TCAGCTGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCACTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp2 HG02257.hp1 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0053 a0003c0003t0004 a0003c0003t0053	a0003c0003t0004g0288 a0003c0003t0053g0287 a0003c0003t0004g0288 a0003c0003t0053g0287	2	364	0.0055	225	c.499 others(242): Show c.499+2568_499+2569insTGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGTGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCAGCTGACC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGT	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(218): Show ATAACTATATAAAATATATAGTTACATAACTATATAAAATATATAGTTAC GTAACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTAC GTAACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTAC GTAACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTAC GTAACTATATAAAATATATAGTTACG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	378	0.0027	225	c.489 others(242): Show c.489+2583_489+2584insCATAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(218): Show GCGGCTGGCCAGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCA GAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	440	0.0023	225	c.-41 others(236): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATC CCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGT AGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098732	C C	CCCCCCCA others(218): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA CCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GCACGGCTGGCCAGGCGGGGGGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	440	0.0023	225	c.-41 others(236): Show c.-4108_-4107insCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCC CCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4107		chr11	TogoVar
OSMR_chr5_38841012_38940641	38861768	T T	TGGACGGG others(218): Show TGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACCTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCACAGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGACTGACCCCCTCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	382	0.0026	225	c.-13 others(242): Show c.-13-7092_-13-7091insTCCCGGACGGGGTGGCTGGCCGGGCGGG GGACTGACCCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACCTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCT CACAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
OSMR_chr5_38841012_38940641	38862297	C C	CCCCCCCA others(218): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGG GGCAGCTGGCCGGGCGGGGGGCTGAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG01358.hp1 others(16): Show HG00621.hp2 HG00639.hp2 HG01358.hp1 HG02015.hp1 HG02074.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18969.hp1 NA18970.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18989.hp1 NA19002.hp2 NA19004.hp2 NA19058.hp2 NA19074.hp1 NA19086.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0013 a0001c0001 a0002c0002 a0008c0013	a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 others(1): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 a0008c0013t0002	a0001c0001t0003g0022 a0001c0001t0003g0085 a0002c0002t0001g0100 others(16): Show a0001c0001t0003g0022 a0001c0001t0003g0085 a0002c0002t0001g0100 a0002c0002t0004g0037 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0078 a0002c0002t0004g0080 a0002c0002t0004g0081 a0002c0002t0004g0083 a0002c0002t0004g0084 a0002c0002t0004g0086 a0002c0002t0004g0093 a0002c0002t0004g0357 a0008c0013t0002g0079	19	382	0.0497	225	c.-13 others(242): Show c.-13-6710_-13-6709insCGGCAGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCA GCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGG	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
P2RY8_chrX_1457581_1542185	1490611	G G	GGAATGAA others(218): Show GGAATGAATGAATGATACCCCAGATTCACTTCTGCAAACGTAGAGAGAAT GAATGAATGATACCCAGATATTCCCTGCAAATGTGGGGGGAATGAATGAA TGATACCCCAGATTCACTTCTGCAAATGTAGAGAGAATGAATGAATGATA CCCAGATATTCCCTGCAAATGTGGGGGGAATGAATGAATGAATGATACCC CAGATTCACTTCTGCAAATGTAGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	114	0.0088	225	c.-24 others(244): Show c.-24-24030_-24-24029insTCTCTACATTTGCAGAAGTGAATCTG GGGTATCATTCATTCATTCATTCCCCCCACATTTGCAGGGAATATCTGGG TATCATTCATTCATTCTCTCTACATTTGCAGAAGTGAATCTGGGGTATCA TTCATTCATTCCCCCCACATTTGCAGGGAATATCTGGGTATCATTCATTC ATTCTCTCTACGTTTGCAGAAGTGAATCTGGGGTATCATTCATTCATTC	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PALD1_chr10_70473767_70573450	70554956	C C	CCCTCCTC others(218): Show CCCTCCTCCCCTCCCTCCTCCTCCCCCTCCCCTCCCCCCTCCTCCTTCCT CCCCTCCCCCTCCTCTCCTTCCTCCCCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCACTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCACTCCCACTTCCCCCTCCCCTCCCCTCTCCCCTTCCCCTCCCCC TCCCCTCCCTCCCCTCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0036 a0003c0003t0003g0036	1	308	0.0033	225	c.226 others(244): Show c.2262+7515_2262+7516insTCCCCTCCCTCCTCCTCCCCCTCCCC TCCCCCCTCCTCCTTCCTCCCCTCCCCCTCCTCTCCTTCCTCCCCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCACTCCCCCTCCCCTCCCCCTCCCC TCCACTCCCCTTCCCCTCCCCTCCACTCCCACTTCCCCCTCCCCTCCCCT CTCCCCTTCCCCTCCCCCTCCCCTCCCTCCCCTCCCCTCCTCCTCCTCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(218): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCC CTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0091 a0003c0003t0003g0091	1	308	0.0033	225	c.226 others(244): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARD6G_chr18_80152232_80252514	80250865	A A	AGCCTGTA others(218): Show AGCCTGTAATCCTAGCACTTTGGAAGGCCCCTCTGCAGTGGCTCATGCCT GTAATCCTAGCACTTTGGAAGGCCCCTCTGCAGTGGCTCATGCCTGTAAT CCTAGCACTTTGGAAGGCCCCTCTGCAGTGGCTCATGCCTGTAATCCTAG CACTTTGGAAGGCCCCTCTGCAGTGGCTCATGCCTGTAATCCTAGCACTT TGGAAGGCCCCTCTGCAGTGGCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0130 a0001c0001t0007g0130	1	382	0.0026	225	c.-35 others(236): Show c.-3518_-3517insATGAGCCACTGCAGAGGGGCCTTCCAAAGTGCTA GGATTACAGGCATGAGCCACTGCAGAGGGGCCTTCCAAAGTGCTAGGATT ACAGGCATGAGCCACTGCAGAGGGGCCTTCCAAAGTGCTAGGATTACAGG CATGAGCCACTGCAGAGGGGCCTTCCAAAGTGCTAGGATTACAGGCATGA GCCACTGCAGAGGGGCCTTCCAAAGTGCTAGGATTACAGGC	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding		3352		chr18	TogoVar
PARP10_chr8_143972158_143991460	143981395	A A	ATGGTGGT others(218): Show ATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGA CAGTGAGTGGTGAAGGTGATGGTGGTGATGGTGGTGACGACAGTGAGTGG TGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGT GATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGGTGATGGTGGTG ACGACAGTGAGTGGTGAAGGTGGTGG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0175 a0009c0011t0001g0175	1	380	0.0026	225	c.255 others(244): Show c.2556+1536_2556+1537insCCACCACCTTCACCACTCACTGTCGT CACCACCATCACCACCATCACCTTCACCACTCACTGTCGTCACCACCATC ACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCACCACCATCACCTTCACCACTCACTG TCGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981435	A A	ATGGTGGT others(218): Show ATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGG TGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGT GGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTG ACGACAGTGAGTGGTGAAGGTGATGG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0174 a0009c0011t0001g0174	1	380	0.0026	225	c.255 others(244): Show c.2556+1496_2556+1497insCCATCACCTTCACCACTCACTGTCGT CACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCACC ACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCACCACCACCTTCACCACTCACTGTCG TCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PATL1_chr11_59631716_59674037	59632702	T T	TATATCTA others(218): Show TATATCTATATATATCTATATATATATCTATATATATATCTATATATATC TATATATATATCTATATATATATCTATATATATCTATATATATATCTATA TATATCTATATATATATCTATATATATCTATATATATCTATATATATATC TATATATATCTATATATATATCTATATATATCTATATATATCTATATATA TATCTATATATATCTATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0014 a0001c0010t0014	a0001c0010t0014g0210 a0001c0010t0014g0210	1	276	0.0036	225	c.56 others(236): Show c.5687_*5688insGATATATATATAGATATATATAGATATATATATA GATATATATAGATATATATAGATATATATATAGATATATATAGATATATA TATAGATATATATAGATATATATAGATATATATATAGATATATATAGATA TATATATAGATATATATAGATATATATATAGATATATATATAGATATATA TAGATATATATATAGATATATATATAGATATATATAGATAT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4013		chr11	TogoVar
PCBP3_chr21_45638725_45947450	45746315	T T	TTGTCAGC others(218): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp1 HG03490.hp1 HG02280.hp1 HG03471.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0133 a0001c0001t0004g0004 a0001c0001t0015g0003 a0001c0001t0001g0133 a0001c0001t0004g0004 a0001c0001t0015g0003	3	292	0.0103	225	c.-16 others(244): Show c.-161-9058_-161-9057insGTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(218): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	292	0.0034	225	c.-16 others(244): Show c.-161-8987_-161-8763dupTTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAG TCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(218): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG01358.hp1 others(1): Show HG00544.hp2 HG00738.hp2 HG01358.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0006 a0001c0001t0016 a0001c0002t0006	a0001c0001t0016g0027 a0001c0002t0006g0006 a0001c0002t0006g0033 others(1): Show a0001c0001t0016g0027 a0001c0002t0006g0006 a0001c0002t0006g0033 a0001c0002t0006g0047	4	292	0.0137	225	c.-16 others(244): Show c.-161-9013_-161-9012insTTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746389	C C	CGTAGCGC others(218): Show CGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAG CGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCAC ACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGT GGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGT CAGCATCGCCGTGTCAGTCCATTGAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	292	0.0034	225	c.-16 others(244): Show c.-161-8804_-161-8803insTGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCA TTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101360480	A A	ACACACTC others(218): Show ACACACTCCTGCCCGGGGGCCTTAGCATCCCCTGGAACACACCAGGCACA CTCCTGCCCGGGGGCCTTAGCATCCCCTGGAACACACCAGGCACACTCCT GCCCAGGGGCCTTAGCATCCCCTGGAACACACCAGGCACACTCCTGCCCG GGGGCCTTAGCATCCCCTGGAACACACCAGGCACACTCCTGCCCGGGGGC CTTAGCATCCCCTGGAACACACCAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0114 a0001c0004t0001g0114	1	336	0.0030	225	c.185 others(244): Show c.1858+5715_1858+5716insCCTGGTGTGTTCCAGGGGATGCTAAG GCCCCCGGGCAGGAGTGTGCCTGGTGTGTTCCAGGGGATGCTAAGGCCCC CGGGCAGGAGTGTGCCTGGTGTGTTCCAGGGGATGCTAAGGCCCCTGGGC AGGAGTGTGCCTGGTGTGTTCCAGGGGATGCTAAGGCCCCCGGGCAGGAG TGTGCCTGGTGTGTTCCAGGGGATGCTAAGGCCCCCGGGCAGGAGTGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(218): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCACTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCC CCTCCCTCATCCCCTCCCCACTCCCCCTCCCCTCCCCCATCCCCTCCCCA CTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02280.hp2 HG01358.hp2 HG02280.hp2	a0002 a0002	a0002c0008 a0002c0017 a0002c0008 a0002c0017	a0002c0008t0001 a0002c0017t0003 a0002c0008t0001 a0002c0017t0003	a0002c0008t0001g0020 a0002c0017t0003g0024 a0002c0008t0001g0020 a0002c0017t0003g0024	2	336	0.0060	225	c.-37 others(236): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGG GGATGGGGGAGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGGGG GAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(218): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0126 a0001c0012t0001g0126	1	336	0.0030	225	c.-37 others(236): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAGGGGAGGGGGAGGG GGAGTGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGGCAGGGGAGAGGGA GGGGAAGTGGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDCD6_chr5_266646_319974	309579	C C	CCCAGTGA others(218): Show CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCCGTGCACCCCAGTGAG GGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCC AGTGATGGCCGCCGTCCCCGTGCACA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	360	0.0028	225	c.368 others(242): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC CGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGC CGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGAT GGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309624	T T	TCCCCGTG others(218): Show TCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGG CCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAG TGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCA CCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCC CGTGCACACCAGTGATGGCCGCCGTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	360	0.0028	225	c.368 others(242): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE1C_chr7_31746179_32075407	31886776	A A	ACTCAGAA others(218): Show ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp1 HG01361.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0190 a0001c0001t0002g0221 a0001c0001t0001g0190 a0001c0001t0002g0221	2	262	0.0076	225	c.129 others(242): Show c.129-5917_129-5916insAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAG	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886776	A A	ACTCAGAA others(218): Show ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT ACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03834.hp1 NA18955.hp2 HG02738.hp2 HG03834.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0171 a0001c0001t0002g0223 a0001c0001t0001g0045 a0001c0001t0001g0171 a0001c0001t0002g0223	3	262	0.0115	225	c.129 others(242): Show c.129-5917_129-5916insAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAG	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDXK_chr21_43714129_43767299	43741153	C C	CGGGGGGG others(218): Show CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGG CGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	358	0.0028	225	c.143 others(240): Show c.143-508_143-507insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(218): Show GGGGGGCTCGCGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0326 a0001c0001t0004g0326	1	358	0.0028	225	c.143 others(240): Show c.143-220_143-219insCTCGCGGGGGGCGGGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(218): Show AGGGAGGGGAAGGGAAGGTGGGGGAAAGGGGAGGCGGAGGGGAAGGAGAA GGGGGAAGGGGAGGGGAGGAGAGGGGGGAGGGGGAGGGGAAGGGAAGGGA AGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGG GGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGA AGGGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	396	0.0025	225	c.-48 others(236): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAAGGGGAGGC GGAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGGAGGGGGA GGGGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGG AAGGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGG GGAAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PGBD2_chr1_248901235_248924146	248911643	A A	AGACGGGG others(218): Show AGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGGCGGGTCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG02602.hp2 others(16): Show HG00140.hp1 HG01099.hp1 HG02602.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18944.hp1 NA18967.hp1 NA18984.hp1 NA18985.hp2 NA18992.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19062.hp1 NA19065.hp1 NA19068.hp2 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0008 a0001c0003 a0004c0008	a0001c0003t0002 a0004c0008t0002 a0001c0003t0002 a0004c0008t0002	a0001c0003t0002g0012 a0001c0003t0002g0049 a0001c0003t0002g0088 others(10): Show a0001c0003t0002g0012 a0001c0003t0002g0049 a0001c0003t0002g0088 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0185 a0001c0003t0002g0186 a0001c0003t0002g0187 a0004c0008t0002g0183 a0004c0008t0002g0184	19	422	0.0450	225	c.-47 others(242): Show c.-47-2124_-47-2123insAGCCGGGCAGAGGCGCCCCTCACCTCCC AGGCGGGTCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGBD2_chr1_248901235_248924146	248911729	C C	CGGCTGGT others(218): Show CGGCTGGTCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	422	0.0024	225	c.-47 others(242): Show c.-47-2081_-47-2080insTCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGTCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGG	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGBD2_chr1_248901235_248924146	248911738	G G	GGGCGGGG others(218): Show GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GTCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0177 a0001c0001t0001g0182	2	422	0.0047	225	c.-47 others(242): Show c.-47-2039_-47-2038insCGGCTGGCCGGTCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTG GCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHIP_chr6_78929419_79083254	79014067	T T	TTACAAAC others(218): Show TTACAAACCTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19002.hp1 NA19090.hp1 NA18955.hp1 NA19002.hp1 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0009 a0003c0003t0002 a0003c0003t0009	a0003c0003t0002g0032 a0003c0003t0009g0016 a0003c0003t0002g0032 a0003c0003t0009g0016	3	318	0.0094	225	c.152 others(244): Show c.1524+1014_1524+1015insCGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAGGTTTGTA	PHIP	ENSG00000146247.15	transcript	ENST00000275034.5	protein_coding	15/39			chr6	TogoVar
PIK3C2B_chr1_204417633_204499805	204471093	T T	TTGGTATT others(218): Show TTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp1 HG03831.hp1 others(4): Show HG02280.hp2 HG03041.hp1 HG03831.hp1 HG03927.hp2 NA18974.hp2 NA18977.hp2 NA19007.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0001c0010 a0001c0041 others(2): Show a0001c0004 a0001c0010 a0001c0041 a0001c0042 a0005c0043	a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 others(4): Show a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0010t0001 a0001c0041t0002 a0001c0042t0001 a0005c0043t0001	a0001c0004t0002g0139 a0001c0004t0004g0159 a0001c0004t0006g0292 others(4): Show a0001c0004t0002g0139 a0001c0004t0004g0159 a0001c0004t0006g0292 a0001c0010t0001g0090 a0001c0041t0002g0152 a0001c0042t0001g0089 a0005c0043t0001g0087	7	302	0.0232	225	c.-84 others(242): Show c.-84-1432_-84-1208dupGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCA	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATT others(218): Show TATATATTATATATTATACATAAAATATATATAATATATATTATATATAA TATATAATATATAATATATAATATATAATATATATAATATATAATATATT ATATATAATATATATTATATATTATATATTATATATATATTATATATTAT ATATAATATATAATATATATTATATATAATATATAATATATATTATATAT AATATATAATATATATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	414	0.0024	225	c.53 others(236): Show c.5315_*5316insATATATTATATATTATACATAAAATATATATAAT ATATATTATATATAATATATAATATATAATATATAATATATAATATATAT AATATATAATATATTATATATAATATATATTATATATTATATATTATATA TATATTATATATTATATATAATATATAATATATATTATATATAATATATA ATATATATTATATATAATATATAATATATATTATATATATA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATT others(218): Show TATATATTATATATTATACATAAAATATATATAATATATATTATATATAA TATATATTATATATAATATATAATATATTATATATAATATATAATATATT ATATATAATATATATTATATATTATATATTATATATATATTATATATAAT ATATAATATATAATATATATTATATATAATATATAATATATATTATATAT AATATATAATATATATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA19055.hp2 NA19064.hp2 NA18961.hp2 NA19055.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	414	0.0073	225	c.53 others(236): Show c.5315_*5316insATATATTATATATTATACATAAAATATATATAAT ATATATTATATATAATATATATTATATATAATATATAATATATTATATAT AATATATAATATATTATATATAATATATATTATATATTATATATTATATA TATATTATATATAATATATAATATATAATATATATTATATATAATATATA ATATATATTATATATAATATATAATATATATTATATATATA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PLCXD1_chrX_276381_308356	283581	T T	TGGGGGCG others(218): Show TGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCGTGGTGCCAGG CCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCTTGGT GTCAGGCACGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGCGGC CGTGGTGTCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGG GGCGGCCTTGGTGTCAGGCACGGGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0107 a0001c0003t0107	a0001c0003t0107g0104 a0001c0003t0107g0104	1	176	0.0057	225	c.-21 others(240): Show c.-21-576_-21-575insTTGGTGTCAGGCCCGGGTGGGGGCGGCCGT GGTGCCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGC GGCCTTGGTGTCAGGCACGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGT GGGGGCGGCCGTGGTGTCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGC CCGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGGCGGCC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHG7_chr12_92697989_92777455	92728409	A A	ATGGTGTA others(218): Show ATGGTGTATATATAAATATATATACACACCACATTCCATGGTGTATATAT AAATATATATACACACCACATTCCATGGTGTATATATAAATATATATACA CACCACATTCCATGGTGTATATATAAATATATATACACACCACATTCCAT GGTGTATATATAAATATATATACACACCACATTCCATGGTGTATATATAA ATATATATACACACCACATTCCATGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp2 HG02818.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0230 a0002c0002t0005g0231 a0002c0002t0005g0230 a0002c0002t0005g0231	2	252	0.0079	225	c.531 others(240): Show c.531-542_531-541insTATATATAAATATATATACACACCACATTC CATGGTGTATATATAAATATATATACACACCACATTCCATGGTGTATATA TAAATATATATACACACCACATTCCATGGTGTATATATAAATATATATAC ACACCACATTCCATGGTGTATATATAAATATATATACACACCACATTCCA TGGTGGTGTATATATAAATATATATACACACCACATTCCATGGTG	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(218): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATAATATATATTATATATAAAAATATAT TTATATATATTATATTATATATAATATATTATATATATTATATTATATAT AATATATATAATATATTATATTATATATAATATATATAATATATTATATT ATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0036 a0005c0005t0010g0036	1	286	0.0035	225	c.-50 others(236): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATTATATATATTATATATAATATAATATATTATATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAAATATATTT TTATATATAATATATATTATATTATATATAATATATATTATATTATATAT AATATATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(218): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATAATATATATTATATATAAAAATATAT TTATATATATTATATTATATATAATATATTATATATATTATATTATATAT AATATATTATATATATTATATTATATATAATATATATAATATATTATATT ATATATAATATATTATATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	286	0.0070	225	c.-50 others(236): Show c.-5036_-5035insTATATTATATATAATATATTATATATAATATAAT ATATTATATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAAATATATTT TTATATATAATATATATTATATTATATATAATATATATTATATTATATAT AATATATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(218): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATAATATATATTATATATAAAAATATAT TTATATATATTATATTATATATAATATATTATATATATTATATTATATAT AATATATTATATATATTATATTATATATAATATATATAATATATTATATT ATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01168.hp2 others(22): Show HG01081.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG02074.hp1 HG02622.hp2 HG02738.hp1 HG03041.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18522.hp1 NA18972.hp2 NA18973.hp2 NA18989.hp1 NA19056.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0002g0029 a0001c0001t0013g0030	25	286	0.0874	225	c.-50 others(236): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATTATATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAAATATATTT TTATATATAATATATATTATATTATATATAATATATATTATATTATATAT AATATATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
POR_chr7_75910155_75991855	75988765	A A	AGAAGGCC others(218): Show AGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGG GGAAGGCGGGGAGGGGGTGTGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	278	0.0036	225	c.22 others(236): Show c.2284_*2285insGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGG GTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGG GTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGG GTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGG GAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1911		chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798456	T T	TGGTGGTG others(218): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	178	0.0056	225	c.185 others(244): Show c.1855-5389_1855-5388insACGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798656	G G	GTGATGGT others(218): Show GTGATGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0080 a0001c0003t0080	a0001c0003t0080g0125 a0001c0003t0080g0125	1	178	0.0056	225	c.185 others(244): Show c.1855-5215_1855-5214insATGGTGATGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTAATG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798704	G G	GTGGTGGT others(218): Show GTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGACGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGATGATGGTGATGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0053 a0001c0001t0062g0053	1	178	0.0056	225	c.185 others(244): Show c.1855-5164_1855-5163insGTGGTGACGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGA CGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGAT GGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PTGES3L_chr17_42963103_42985080	42973222	G G	GCCCCGTC others(218): Show GCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCTACCCCGTCCGGGACGGAGGTCG GGGGGTCAGCCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCGGCCCGGCCAGCTA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18956.hp2 NA18974.hp2 others(2): Show NA18939.hp2 NA18956.hp2 NA18974.hp2 NA18984.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0119 a0001c0001t0001g0145 a0001c0001t0001g0015 a0001c0001t0001g0119 a0001c0001t0001g0145	5	336	0.0149	225	c.289 others(242): Show c.289-1527_289-1526insTAGCTGGCCGGGCCGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCG ACCTCCGTCCCGGACGGGGTAGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding	4/6			chr17	TogoVar

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