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
NUP93_chr16_56725129_56855286	56808131	A A	AAATATAT others(286): Show AAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACTATATA AAATATATAGTTACAAAATATATAGTTACGTAACTATATAAAATATATAG TTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAATATATAG TTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAATATATAG TTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAATATATAG TTACGTAACTATATAAAATATATAGTTACGTAACTATATAAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	318	0.0031	293	c.489 others(310): Show c.489+2500_489+2501insATATATAGTTACGTAACTATATAAAATA TATAGTTACGTAACTATATAAAATATATAGTTACAAAATATATAGTTACG TAACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACG TAACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACG TAACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACG TAACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACG TAACTATATAAAATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOF_chr2_26452203_26483124	26476529	C C	CCCCCACC others(286): Show CCCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTCCCCACCCTTCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC TCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTC CCCCACCTCCTTCCCCACCCCTTCCCCACGTCCTTCCCCACCCCTTCCCC CACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCAGCCCTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	326	0.0031	293	c.436 others(308): Show c.436-213_436-212insAAGGGCTGGGGAAGGAGGTGGGGGAAGGGG TGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGACGTGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGG GAAGGGGTGGGGGAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAA GGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGG GGTGGGGAAGGAGGTGGGGAAGGGTGGGGAAGGGGTGGGGAAGGAGGTGG GGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476529	C C	CCCCCACC others(286): Show CCCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTCCCCACCCTTCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC TCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTC CCCCACCTCCTTCCCCACCCCTTCCCCACGTCCTTCCCCACCCCTTCCCC CACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCAGCCCTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0116 a0004c0013t0001g0116	1	280	0.0036	293	c.267 others(310): Show c.2677-213_2677-212insAAGGGCTGGGGAAGGAGGTGGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGACGTGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGG AAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAA GGGGTGGGGAAGGAGGTGGGGAAGGGTGGGGAAGGGGTGGGGAAGGAGGT GGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PACSIN2_chr22_42864773_43020149	42981481	G G	GGGGGGGG others(286): Show GGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCGGCCGCCCCGTGCGGGAGGTGAGGGGCGCCTCTG CCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0174 a0001c0001t0006g0174	1	291	0.0034	293	c.-78 others(312): Show c.-78+33539_-78+33540insGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTC CCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGCACGGGGCGG CCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGACCCCCCCCCC	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PAK5_chr20_9532370_9844076	9660319	T T	TAAGATTA others(286): Show TAAGATTATTTTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18995.hp1 NA19010.hp2 NA18962.hp2 NA18995.hp1 NA19010.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0010 a0002c0001 a0003c0003 a0001c0010 a0002c0001 a0003c0003	a0001c0010t0020 a0002c0001t0001 a0003c0003t0015 a0001c0010t0020 a0002c0001t0001 a0003c0003t0015	a0001c0010t0020g0092 a0002c0001t0001g0126 a0003c0003t0015g0078 a0001c0010t0020g0092 a0002c0001t0001g0126 a0003c0003t0015g0078	3	173	0.0173	293	c.-11 others(312): Show c.-11-15981_-11-15980insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTAAAATAATCTT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	2/9			chr20	TogoVar
PALLD_chr4_168492052_168933441	168793366	C C	CATATATA others(286): Show CATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCA TATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATA TATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATA TATACATATATATGTGTGCATATATATACATATATATGTGTGCATATATA TACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATA CATATATATGTGATATATATCGCATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	136	0.0074	293	c.196 others(314): Show c.1964+81451_1964+81452insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGATATATATCGCATATATATAC ATATATATGTGATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH10_chr4_133144294_133199700	133178652	A A	ATGTATGT others(286): Show ATGTATGTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0150 a0001c0001t0015g0150	1	379	0.0026	293	c.310 others(314): Show c.3104-11475_3104-11474insTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGC TAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTTGTATGTTACTTTT	PCDH10	ENSG00000138650.9	transcript	ENST00000264360.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	706274	C C	CCCAGGCA others(286): Show CCCAGGCAGGACTCCGGGAGGTCGAAGACCCCAGCCCAGGCAGGACCCAG GGAGGGCTGGGACAGCATCCCAGGCAGGACCCAGGGAGGGCTGGGACAGC AGCCCAGGCAGGCCGCAGGGAGGGCAAGACCCCAGTCCAGGCAGGACGCA GGGAGGGCAAGACCCCAGTCCAGGCAGGACGCAGGGAGGGCAAAGACCCC AGAACAGGGAGGGCCAAGACCCCAGACCAGGCAGGACCCCGAGAGGGCTG GGACCCCAGCCCAGGCAGGACTCCGGGAGGTCGAAGACCCCAGT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0123 a0001c0003t0005g0123	1	364	0.0027	293	c.-19 others(310): Show c.-190+370_-190+371insTCCCAGGCAGGACCCAGGGAGGGCTGGG ACAGCAGCCCAGGCAGGCCGCAGGGAGGGCAAGACCCCAGTCCAGGCAGG ACGCAGGGAGGGCAAGACCCCAGTCCAGGCAGGACGCAGGGAGGGCAAAG ACCCCAGAACAGGGAGGGCCAAGACCCCAGACCAGGCAGGACCCCGAGAG GGCTGGGACCCCAGCCCAGGCAGGACTCCGGGAGGTCGAAGACCCCAGTC CAGGCAGGACTCCGGGAGGTCGAAGACCCCAGCCCAGGCAGGACCCAGGG AGGGCTGGGACAGCA	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCLO_chr7_82749012_83167884	82999623	A A	ATAATATG others(286): Show ATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATAAA ATATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATA AAATATAATATGTAATATTAAATATAAAATATAATATGTAATATTATATA TAAAATATAATATGTAATATTATATATAAAATATAATATGTAATATTATA TATAAAATATAATATGTAATATTATATATAAAATATAATATGTAATATTA TATATAAAATATAATATGTAATATTATATATAAAATATAATATG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0020 a0001c0065t0020	a0001c0065t0020g0098 a0001c0065t0020g0098	1	75	0.0133	293	c.330 others(314): Show c.3301-33137_3301-33136insCATATTATATTTTATATATAATAT TACATATTATATTTTATATATAATATTACATATTATATTTTATATATAAT ATTACATATTATATTTTATATATAATATTACATATTATATTTTATATATA ATATTACATATTATATTTTATATATAATATTACATATTATATTTTATATT TAATATTACATATTATATTTTATATTTAATATTACATATTATATTTTATA TTTAATATTACATATTATATTTTATATTTAATATTACATATTATATTTTA TATTTAATATTACATATTA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(286): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG04199.hp2 others(1): Show HG01081.hp2 HG01169.hp1 HG04199.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0003 a0001c0001t0001 a0002c0004t0003	a0001c0001t0001g0202 a0001c0001t0001g0208 a0002c0004t0003g0278 others(1): Show a0001c0001t0001g0202 a0001c0001t0001g0208 a0002c0004t0003g0278 a0002c0004t0003g0280	4	94	0.0426	293	c.36 others(304): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(286): Show GGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0141 a0001c0002t0018g0141	1	305	0.0033	293	c.143 others(308): Show c.143-508_143-507insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLCB1_chr20_8127266_8889900	8661945	A A	ATATATAT others(286): Show ATATATATAATTATATAATTATTTATTATATAATTATATATAATTATATA ATTATTATATAATTATATATAATTATATAATTATTTATTATATAATTATA TATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTAT TTATTATATAATTATATATAATTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATTATATAATTATTTATTATATAAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0015 a0001c0022t0015	a0001c0022t0015g0103 a0001c0022t0015g0103	1	85	0.0118	293	c.862 others(310): Show c.862+3296_862+3297insATATAATTATATATAATTATATAATTAT TTATTATATAATTATATATAATTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATA TAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTT ATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATAT AATTATATAATTATT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHA4_chr19_48832097_48873617	48834468	G G	GGGTCTGA others(286): Show GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGAAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCCAGAGCC TGGACTCCTGGGTCTGAGGGAAGAGGGGCTGGGAGCCTGGACCCCTGGGT CTGAAGGAGGAGGGGTTGGGGACTTGGATTCCTGGGTCTGAGGGAGGAGG TGCCGGAGCCTGGACTTCTGGGTCTGAGGGAGGAGGGGCTGGGGACCTGG ACTCCTGGGTCTGAGGGCAGAGGGGCTGGGGGCCTGGACTCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0241 a0002c0002t0003g0241	1	294	0.0034	293	c.28 others(304): Show c.2820_*2821insTAGGAGTCCAGGCCCCCAGCCCCTCTGCCCTCAG ACCCAGGAGTCCAGGTCCCCAGCCCCTCCTCCCTCAGACCCAGAAGTCCA GGCTCCGGCACCTCCTCCCTCAGACCCAGGAATCCAAGTCCCCAACCCCT CCTCCTTCAGACCCAGGGGTCCAGGCTCCCAGCCCCTCTTCCCTCAGACC CAGGAGTCCAGGCTCTGGCACCTCCTCCCTCAGACCCAGGAGTCCAGGCC CCCAGGCCCTACTTTCTCAGACCCAGGAGTCCAGACCTCAGCCCCTCCTC CCTCAGACC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2628		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(286): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0130 a0001c0001t0014g0130	1	2	0.5000	293	c.45+ others(304): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGG GGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(286): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATAATATATATTATATATAAAAATATAT TTATATATATTATATTATATATAATATATTATATATATTATATTATATAT AATATATTATATATATTATATTATATATAATATATATAATATATTATATT ATATATAATATATTATATATTATATTATATATAATATATTATATATATTA TATATAATATATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	31	0.0323	293	c.-50 others(304): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATTATATATAATATATATAATATATTATATATAATATAATATATAATA TATTATATATAATATAATATATTATATATATTATATATAATATAATATAT ATAATATATTATATATAATATAATATATATAATATATTATATATAATATA ATATATATAAATATATTTTTATATATAATATATATTATATTATATATAAT ATATATTATATTATATATAATATATTTTTATATAAATATATATTATATAT TATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PRKCZ_chr1_2045411_2190395	2106692	A A	AGCCCCTC others(286): Show AGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGAC TCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGG CCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTG TCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCT CCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGC GAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04115.hp2 HG03017.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0146 a0001c0001t0001g0086 a0001c0001t0001g0146	2	236	0.0085	293	c.335 others(312): Show c.335-28544_335-28543insCACGTGTCACCAGGCCAGGTGACTCT TCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCA GGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCA CCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCA CGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAG GACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCG GTGGGCGAGGACCTCCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRH_chr19_55176247_55214501	55207686	T T	TGGGGTCT others(286): Show TGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGAGGTTGGGGGCCTGGACT CCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGG AGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAGGGGCTGGG GGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTG AGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTA GGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0001 a0011c0027t0001	a0011c0027t0001g0278 a0011c0027t0001g0278	1	318	0.0031	293	c.52- others(306): Show c.52-488_52-487insCAGCCCCTCCTCCCTCAGACCCAGGAATCCAG ACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTC CTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCA GAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGCCCCCAGGCCC CCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCC CTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAGACCCAGGA GTCCAGACCCC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55207686	T T	TGGGGTCT others(286): Show TGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACC TCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGG AGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTG AGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTA GGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01952.hp1 HG02040.hp1 others(13): Show HG01175.hp2 HG01952.hp1 HG02040.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG02280.hp1 HG02602.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp1 NA18975.hp2 NA19000.hp2 NA19007.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0021 a0045	a0001c0001 a0001c0040 a0002c0002 others(7): Show a0001c0001 a0001c0040 a0002c0002 a0003c0003 a0004c0008 a0005c0039 a0005c0093 a0008c0009 a0021c0087 a0045c0112	a0001c0001t0001 a0001c0040t0001 a0002c0002t0002 others(7): Show a0001c0001t0001 a0001c0040t0001 a0002c0002t0002 a0003c0003t0003 a0004c0008t0003 a0005c0039t0001 a0005c0093t0001 a0008c0009t0001 a0021c0087t0001 a0045c0112t0001	a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0227 others(12): Show a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0227 a0001c0001t0001g0247 a0001c0001t0001g0256 a0001c0040t0001g0158 a0002c0002t0002g0198 a0002c0002t0002g0307 a0003c0003t0003g0011 a0004c0008t0003g0252 a0005c0039t0001g0157 a0005c0093t0001g0161 a0008c0009t0001g0023 a0021c0087t0001g0300 a0045c0112t0001g0302	16	333	0.0480	293	c.52- others(306): Show c.52-780_52-488dupCAGCCCCTCCTCCCTCAGACCCAGGAATCCAG ACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTC CTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCA GAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCC CCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTC CCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGACCCC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RAMACL_chr6_166578009_166591678	166581948	G G	GCTGAGAT others(286): Show GCTGAGATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGC CCAGGGAGAGGTGAGATGGGGTGGGACGCCCACTGGGCAGGTGGGCTGGG CAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCCACTGGGCAGG TGGGCTGGGCAGGAGGGCACAGGGAGAGGTGAGATGGGGTGGGACGTCCA CTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGAGATGGGGTG GGACGCACACTGGGCAGGTGGGCTGGGCAGAGGGCCCAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	1	439	0.0023	293	c.41 others(304): Show c.4172_*4173insTCTCCCTGGGCCCTCTGCCCAGCCCACCTGCCCA GTGTGCGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCCC ACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCT GCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCTG GGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCAC CTCTCCCTGGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACGTCCCACC CCATCTCAG	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding		1060		chr6	TogoVar
RCL1_chr9_4787944_4866066	4814225	T T	TGAGGTGT others(286): Show TGAGGTGTGTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00735.hp1 others(17): Show HG00323.hp2 HG00621.hp1 HG00735.hp1 HG01361.hp1 HG01928.hp1 HG01934.hp2 HG02976.hp2 HG03688.hp1 HG03831.hp1 NA18906.hp1 NA18940.hp2 NA18944.hp1 NA18966.hp1 NA18977.hp1 NA18993.hp2 NA18995.hp2 NA19058.hp2 NA19062.hp1 NA19086.hp2 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0011 a0001c0001 a0001c0003 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0003t0016 a0005c0011t0031	a0001c0001t0001g0092 a0001c0001t0002g0067 a0001c0001t0002g0076 others(17): Show a0001c0001t0001g0092 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0002g0090 a0001c0001t0002g0177 a0001c0001t0003g0025 a0001c0001t0003g0054 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0003g0091 a0001c0001t0003g0108 a0001c0001t0004g0050 a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0007g0040 a0001c0001t0011g0060 a0001c0003t0016g0046 a0005c0011t0031g0096	20	342	0.0585	293	c.137 others(310): Show c.137-9307_137-9306insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGG AGGTGTGTTCTTTCT	RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
RFC1_chr4_39282456_39371362	39348428	A A	AAAAAAAA others(286): Show AAAAAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAAGGAAAAGGAAAAGGAA AAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAA GGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAGGA AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	264	0.0038	293	c.132 others(310): Show c.132+2919_132+2920insCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTT TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTT CCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGPD5_chr2_109789305_109862705	109794583	G G	GGGGGGAG others(286): Show GGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCG GCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGG CGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGC CCCGGCCCGGCCGGGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGG CCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCCCCGGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0009 a0002c0002t0018g0009	1	33	0.0303	293	c.72+ others(304): Show c.72+49_72+50insGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGG CGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGC GGCGGCCTCGGCCCCGGCCCGGCCGGGGGGGGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGG CGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCCCCGGC CCGGCCGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF17_chr13_24759169_24884921	24881903	G G	GATATATA others(286): Show GATATATAATCTATATAGATATATAATCTATATAGATATATAGATACATA ATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	397	0.0025	293	c.21 others(304): Show c.2177_*2178insATATATAATCTATATAGATATATAATCTATATAG ATATATAGATACATAATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTATATAGATATATAGATACATCTATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1983		chr13	TogoVar
RPS6KA2_chr6_166404364_166632251	166581948	G G	GCTGAGAT others(286): Show GCTGAGATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGC CCAGGGAGAGGTGAGATGGGGTGGGACGCCCACTGGGCAGGTGGGCTGGG CAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCCACTGGGCAGG TGGGCTGGGCAGGAGGGCACAGGGAGAGGTGAGATGGGGTGGGACGTCCA CTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGAGATGGGGTG GGACGCACACTGGGCAGGTGGGCTGGGCAGAGGGCCCAGGGAGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0009 a0001c0021t0009	a0001c0021t0009g0147 a0001c0021t0009g0147	1	241	0.0041	293	c.100 others(312): Show c.100-43165_100-43164insTCTCCCTGGGCCCTCTGCCCAGCCCA CCTGCCCAGTGTGCGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTG CCCAGCCCACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCTCCCTGT GCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCACC TCTCCCTGGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCC CATCTCACCTCTCCCTGGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGAC GTCCCACCCCATCTCAG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RUNDC3B_chr7_87623398_87837296	87626198	A A	ATTGTCAT others(286): Show ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT ATTGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATA TGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATAT TGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATGTG TCATATATATGTGTCATATATGTGTCATATATATCTGTCATATATGTGTC ATATATATCTGTCATATATGTGTCATATATATCTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	79	0.0127	293	c.-26 others(304): Show c.-2626_-2625insTTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATATTGTCATATATATGTGTCATATATATGTCATATA TATGTGTCATATATATGTCATATATATGTGTCATATATATTGTCATATAT ATGTGTCATATATATTGTCATATATATGTGTCATATATGTGTCATATATA TGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATATC TGTCATATATGTGTCATATATATCTGTCATATATGTGTCATATATATCTG TCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2199		chr7	TogoVar
RXFP3_chr5_33931386_33943918	33938249	T T	TAAGAAGT others(286): Show TAAGAAGTAGGTGGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0012 a0005c0008t0012	a0005c0008t0012g0000 a0005c0008t0012g0000	1	444	0.0023	293	c.11 others(302): Show c.112_*113insTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAG TAGGTGG	RXFP3	ENSG00000182631.7	transcript	ENST00000330120.5	protein_coding	1/1	113	INFO_REALIGN_3_PRIME	chr5	TogoVar
SAMD11_chr1_918923_949574	934151	G G	GGCGGCTG others(286): Show GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0235 a0002c0003t0004g0235	1	428	0.0023	293	c.843 others(310): Show c.843-1620_843-1619insCGGCTGCGTTACAGGTGGGCGGGGGGGG CGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGC GTTACAGGTGGGCAG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934539	C C	CGGGGGGG others(286): Show CGGGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGAGGCGGCTGCGTTACAGGTGGGCGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0285 a0007c0016t0002g0285	1	419	0.0024	293	c.843 others(310): Show c.843-1228_843-1227insGGAGGCGGCTGCGTTACAGGTGGGCGGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIGIRR_chr11_400716_419999	401615	C C	CCCCGCTC others(286): Show CCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCA CACCCGCCCCGCTCACCCCCAGGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCCTCACACCC GGCCCCGCTCACACCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	232	0.0043	293	c.42 others(304): Show c.4280_*4281insCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGTGT GAGCGGGGCCGGGTGTGAGGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGA GCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCTGGGGGTGAGC GGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGT GTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4100		chr11	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGT others(286): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGAGGGGGG TGCCCAGCTCTGACCATGTCTGGATACAGTCGGGTGGGGGGTGCCCAGCT CTGACCATGTCTGGATACAGTCGGTGGGGGGGGGTGGTGCCCAGCTCTGA CCATGTCTGGATACAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGG ATGCAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGG GGGGGGTGCCCAGCTCTGACCATGTCTCAATGCAGTCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	139	0.0072	293	c.-15 others(310): Show c.-153-961_-153-960insCCCCCCCGACTGCATTGAGACATGGTCA GAGCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCAC CCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGA CTGTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCCACCGACTGT ATCCAGACATGGTCAGAGCTGGGCACCCCCCACCCGACTGTATCCAGACA TGGTCAGAGCTGGGCACCCCCCTCCCCCGACTGCATCCAGACATGGTCAG AGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(286): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0170 a0001c0001t0024g0170	1	70	0.0143	293	c.100 others(312): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(286): Show CAGTCAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0060 a0001c0001t0058g0060	1	70	0.0143	293	c.100 others(312): Show c.1003-9033_1003-9032insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTAGTCAAAGAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AATATAAA others(286): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA ATATATATAATATAAATATATTATATATAATATATATAAATATAAATATA TTATATATATTATATATAAAATATAAATATATTATATATATTATATATAA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19077.hp1 NA18991.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0035 a0001c0001t0001g0036	2	133	0.0150	293	c.-70 others(310): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTTATATATAATATATATAATATATTTATATTTTA TATATAATATATATAATATATTTATATTTATATATATTATATATAATATA TTTATATTATATATATTATATATAATATATTTATATTATATATAATATAT ATAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SNTG2_chr2_945849_1372613	1047884	T T	TAAAAGCA others(286): Show TAAAAGCAGAGATTTTATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0080 a0003c0007t0001g0080	1	188	0.0053	293	c.73- others(310): Show c.73-35618_73-35617insTCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAGCAGAGATTTTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(286): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGCA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0095 a0001c0002t0003g0095	1	129	0.0078	293	c.-13 others(310): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCC CAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(286): Show ATATATTGTATATATACTATATATTGTATATTATATATACTATATAGTAT AATATACAATATATAGTATATTATATACTATATAGTATAATATACTATAT ACAGTATATTATATATACTATATACAGTATAATATACTATATACTGTATA TTATATATACAATATACTGTATATTATATATACAATATATAGTATATATA ATATACAGTATATTGTATATATAATATACAGTATATAGTATATATAATAT ACTATATATAGTATATATACAATATACTATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19074.hp1 NA18969.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0069 a0001c0002t0004g0070 a0001c0002t0004g0069 a0001c0002t0004g0070	2	181	0.0110	293	c.168 others(312): Show c.1682-7645_1682-7644insACTATATATTGTATATTATATATACT ATATAGTATAATATACAATATATAGTATATTATATACTATATAGTATAAT ATACTATATACAGTATATTATATATACTATATACAGTATAATATACTATA TACTGTATATTATATATACAATATACTGTATATTATATATACAATATATA GTATATATAATATACAGTATATTGTATATATAATATACAGTATATAGTAT ATATAATATACTATATATAGTATATATACAATATACTATATATGTTTATA CTGTATATTGTATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPATA13_chr13_24155720_24312069	24189683	T T	TATATATA others(286): Show TATATATATAATATGTAATATATTATATATATTTATATATATATGTAATA TATTATATATATTTATATATATAATATGTAATATATTATATATATTTATA TATATATGTAATATATTATATATATTTATATATATAATATGTAATATATT ATATATATTTATATATATAATATGTAATATATTATATATATTTATATATA TAATATGTAATATATTATATATATTTATATATATAATATGTAATATATTA TATATAAAAGTATATATAATATATAATATATTATATATAAAAGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0075 a0002c0007t0075	a0002c0007t0075g0200 a0002c0007t0075g0200	1	311	0.0032	293	c.-11 others(314): Show c.-112+28758_-112+28759insTAATATGTAATATATTATATATAT TTATATATATATGTAATATATTATATATATTTATATATATAATATGTAAT ATATTATATATATTTATATATATATGTAATATATTATATATATTTATATA TATAATATGTAATATATTATATATATTTATATATATAATATGTAATATAT TATATATATTTATATATATAATATGTAATATATTATATATATTTATATAT ATAATATGTAATATATTATATATAAAAGTATATATAATATATAATATATT ATATATAAAAGCATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(286): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGGGAGGGGAGGGGGGAGGGGGGGGGGAGGGGAGGGGAGGGGAGG GGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGGGAGGGGAGG GGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0230	1	6	0.1667	293	c.138 others(312): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCCCTCCC CCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(286): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0147 a0004c0004t0001g0147	1	6	0.1667	293	c.138 others(312): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137190011	C C	CTATAATT others(286): Show CTATAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAACCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02257.hp1 HG02698.hp2 others(9): Show HG02080.hp2 HG02257.hp1 HG02698.hp2 HG02922.hp2 HG03017.hp1 HG03139.hp1 HG03491.hp2 HG03831.hp2 HG03942.hp1 NA18953.hp1 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0028	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 others(9): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0084 a0001c0001t0002g0139 a0001c0001t0003g0032 a0001c0001t0004g0021 a0001c0001t0007g0046 a0001c0001t0009g0069 a0001c0001t0011g0115 a0001c0001t0028g0127	12	148	0.0811	293	c.233 others(312): Show c.233-49318_233-49317insCCCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGTTAAAACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAATTATA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SYK_chr9_90796819_90903549	90884846	C C	CACATATG others(286): Show CACATATGTGTGTATGCACATATACACATATGTGTGTATGCACATATACA CATATGTGTGTATGCACATATACACACATATGTGTGTATGCACATATATA CATATATACACATATGTGTACATATGTGTATATATACATATATATACACA TATATATGTATATATACACATATGTGAATATGTATATATGTGTTATATAT ACACATATGTGTATATGTATATATACATATATACACATATGTGTATATAC ACATATATACATATACACATATGTGTATATACATATATACATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0022	a0001c0005t0022g0042 a0001c0005t0022g0042	1	274	0.0036	293	c.158 others(312): Show c.1582-2900_1582-2899insTATGTGTGTATGCACATATACACATA TGTGTGTATGCACATATACACATATGTGTGTATGCACATATACACACATA TGTGTGTATGCACATATATACATATATACACATATGTGTACATATGTGTA TATATACATATATATACACATATATATGTATATATACACATATGTGAATA TGTATATATGTGTTATATATACACATATGTGTATATGTATATATACATAT ATACACATATGTGTATATACACATATATACATATACACATATGTGTATAT ACATATATACATATACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TAF4_chr20_61969798_62070881	62057665	G G	GGGGGCCA others(286): Show GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCA GGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAA GGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0298 a0001c0033t0001g0298	1	262	0.0038	293	c.136 others(312): Show c.1360+6785_1360+6786insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGA GCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAG GTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTA GACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCC CCATTGTCTGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCTTCCTGAGGTC TTGCTGAGGTTGGCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62057665	G G	GGGGGCCA others(286): Show GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCA GGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAA GGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02148.hp2 NA20752.hp1 HG01433.hp2 HG02148.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282	3	264	0.0114	293	c.136 others(312): Show c.1360+6785_1360+6786insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGA GCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAG GTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTA GACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCC CCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTC TTGCTGAGGTTGGCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACGACCG others(286): Show CACGACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	106	0.0094	293	c.228 others(310): Show c.2287-661_2287-660insTGTGGTGACTGTGGATGGCGGTTGTGGG GGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACT GTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TEX19_chr17_82354247_82368775	82360372	T T	TTTCCCTC others(286): Show TTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCA GTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAAGTTTCCCTC AGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAGTTTCCCTC AGGTTCCCCCAGTTTCCCTCAGTTTCCCCCAGTTTCCCTCAAGTTTCCCT CAGGTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCT CAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01261.hp1 others(2): Show HG00642.hp2 HG00735.hp1 HG01261.hp1 HG02451.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	5	369	0.0136	293	c.-27 others(312): Show c.-272+1147_-271-1156dupGGTTCCCCCAGTTTCCCTCAGGTTCC CTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTC CCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCCCCAGTTTC CCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTT CCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTT CCCTCGGGTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGT TCCCTCAGTTTCCCTCA	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
THEG_chr19_356747_381026	376879	C C	CCCCCACC others(286): Show CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCC GTGCCTCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCC CCCCGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCA GCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	325	0.0031	293	c.-91 others(302): Show c.-910_-909insCACAGAGGGGGGAGAGGCTGGGTGGGGCACGGGGGG GGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGGCACG GGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGGAGAGGCTGGGTGGGGCACGGAGGGGGAGAGGCTGGGTGGG GCACGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGT GGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		854		chr19	TogoVar
THEG_chr19_356747_381026	377575	T T	TCTGTGCC others(286): Show TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTC TCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0230 a0001c0001t0006g0230	1	350	0.0029	293	c.-16 others(304): Show c.-1606_-1605insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGG GGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGG GCACGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTG GGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1550		chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2419018	C C	CCCTCTCC others(286): Show CCCTCTCCTCCCTCTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCCTCCC TCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCTG TTTCCTTTCCTCTCTCCCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTC CCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTC CCACCGTCTCCTTCCCTCCCTCCCTCCCTCCCTCTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0077 a0006c0008t0003g0077	1	3	0.3333	293	c.215 others(310): Show c.2154+882_2154+883insTCTCCTCCCTCTCCTTCCCTCTCCTCCC TCTCCTTCCCTCTCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTC CTTCCCTTCCCTCCCTCTGTTTCCTTTCCTCTCTCCCTTTCCTTCCCTTC CCTCCCTCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTC CCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGC CCTCTCCTTCCCTTCCCTCCCACCGTCTCCTTCCCTCCCTCCCTCCCTCC CTCTCCTTCCCTTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134768	A A	AGGAGAAG others(286): Show AGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGGGAAG AAGAAGGGAGGGGAGGGGAGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGG GGAGGAGAGGGGAGGGCAGAAGACGGGAGGGGAGAAGAGGGAGGAGAGGG GATGGGAAAATAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGA GAGAAGAGGGGAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGG GAGGGGAGGGGAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	214	0.0047	293	c.612 others(308): Show c.612-565_612-564insCCTCTTCTCCCCTCCCCTTTCCTCCCCTTT CCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCCCTTTCCTCCCCTCC CCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCC CCTATTTTCCCATCCCCTCTCCTCCCTCTTCTCCCCTCCCGTCTTCTGCC CTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCTCCCTCCCC TCCCCTCCCTTCTTCTTCCCTCCTCTCCCCTCCCCTCTTCTCCTCTCCCC TCCCCTCTTCTCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TPO_chr2_1408463_1548673	1480810	C C	CGTCCACA others(286): Show CGTCCACACCACCTCCCTCCTCCTGCTGCATCCGTCCACACCACCTCCCT CCTCCTTCATCCGTCCACACCACCTTCCTCCTGCTGCATCCGTCCACACC ACCTCCCTCCTCCTTCATCCGTCCACACCACCTTCCTCCTGCTGCATCCG TCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCACCTCCCTCCTCC TGCATCCGTCCACACCACCTTCCTCCTGCTGCATCCGTCCACACCACGTC CCTGCTGCTGCGTCTGTCCTCACCACGTCCCTGCTGCTGCGTCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0008 a0004c0032t0008	a0004c0032t0008g0107 a0004c0032t0008g0107	1	112	0.0089	293	c.133 others(312): Show c.1338+3217_1338+3218insCTCCCTCCTCCTGCTGCATCCGTCCA CACCACCTCCCTCCTCCTTCATCCGTCCACACCACCTTCCTCCTGCTGCA TCCGTCCACACCACCTCCCTCCTCCTTCATCCGTCCACACCACCTTCCTC CTGCTGCATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCA CCTCCCTCCTCCTGCATCCGTCCACACCACCTTCCTCCTGCTGCATCCGT CCACACCACGTCCCTGCTGCTGCGTCTGTCCTCACCACGTCCCTGCTGCT GCGTCTGTCCACACCAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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