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
LRRC27_chr10_132327193_132386508	132364476	CCCACCCA others(123): Show CCCACCCACACTTACACCCACCCTTACATCTACCTCCACACTCGCACTTA CACCCACACTTAAATCTACCTCCACACCCACACTTACACCCACGTCCACA CCCTGGGGCCCCACACTCAGGCAGTCCGCGT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02717.hp2 HG01257.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0027 a0001c0006t0017 a0001c0006t0027	a0001c0006t0017g0105 a0001c0006t0027g0107 a0001c0006t0017g0105 a0001c0006t0027g0107	2	290	0.0069	-130	c.129 others(17): Show c.1290-943_1290-814del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LYPD8_chr1_248734415_248760759	248746929	GCCCGCAC others(123): Show GCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCA GCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCC CCCGCACGGCCAGCACCCACCCAGGGCATCC	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	374	0.0027	-130	c.337 others(17): Show c.337+1230_337+1359del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MAEA_chr4_1284891_1345137	1333975	TGTGCTCA others(123): Show TGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCC CACCCCATGCCCACCATGTGCTCACCCCTGCACCCACCCCCATGCCCGTG TGCTCACCCCTGCACCCATCCCATGCCTACC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02148.hp1 HG02523.hp2 others(7): Show HG02145.hp1 HG02148.hp1 HG02523.hp2 HG02572.hp2 HG02723.hp1 HG03130.hp2 HG03239.hp1 HG03540.hp1 NA18964.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(7): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0163	10	388	0.0258	-130	c.765 others(17): Show c.765+1122_765+1251del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333995	TCCCATGC others(123): Show TCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTG CTCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATC CCATGCCTACCGTGCTCACCCCCATGCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03471.hp2 HG01243.hp1 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0264 a0001c0005t0001g0265 a0001c0005t0001g0264 a0001c0005t0001g0265	2	388	0.0052	-130	c.765 others(17): Show c.765+1139_765+1268del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K13_chr3_185358136_185494094	185453828	TATATATA others(123): Show TATATATATATGATACATATATATGAGATATATATATATGATACATATAT ATGAGATATATATGTGATACATATATATGAGATATATATGTGATACATAT ATATGAGATATATATGATACATATATATGAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	278	0.0036	-130	c.127 others(19): Show c.1278+2442_1278+2571del	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MARS1_chr12_57483068_57521652	57507393	AGGCAGAG others(123): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC CCACCTCCCTCCTGCATGGGGCGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	288	0.0035	-130	c.136 others(19): Show c.1368+3126_1368+3255del	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MED14_chrX_40643305_40740542	40661279	ACCATGTT others(123): Show ACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCGCCT GCCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCACGCCTG GCCTTGTATTTTCAGTAGAGATAGGGTGTCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02970.hp2 others(3): Show HG01891.hp2 HG02055.hp1 HG02970.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(3): Show a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0014t0001g0169	6	251	0.0239	-130	c.368 others(19): Show c.3684+1516_3684+1645del	MED14	ENSG00000180182.11	transcript	ENST00000324817.6	protein_coding	26/30			chrX	TogoVar
MELK_chr9_36567895_36682682	36615044	GGGGCAGC others(123): Show GGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGAC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	242	0.0041	-130	c.666 others(17): Show c.666+7375_666+7504del	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
METAP1D_chr2_171994953_172087430	172042542	TATGTGTG others(123): Show TATGTGTGTATGTGTACATGTGCACATATATACATATATGTGTGTATGTG TACATGTGCACATATATACATATATGTGTGTATGTGTACACATATACATA TGTGTGTATGTGTATATGTGTACACATATAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03130.hp2 HG03540.hp1 others(5): Show HG02818.hp1 HG03130.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA19009.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0243 a0001c0001t0004g0110 a0001c0001t0004g0144 others(5): Show a0001c0001t0002g0243 a0001c0001t0004g0110 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154	8	356	0.0225	-130	c.41- others(17): Show c.41-18955_41-18826del	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9			chr2	TogoVar
MIGA1_chr1_77774649_77884540	77870139	GGCTCCTC others(123): Show GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCC CTCCCGGTCGGGGTGGCTGCCGGGCGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp1 HG03098.hp1 others(3): Show HG02145.hp2 HG02818.hp1 HG03098.hp1 HG03540.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0054 a0001c0001t0009g0267 others(2): Show a0001c0001t0009g0003 a0001c0001t0009g0054 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0009g0276	6	280	0.0214	-130	c.146 others(19): Show c.1468-2848_1468-2719del	MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTA3_chr2_42563632_42761946	42605880	GGGCAGAG others(123): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCCGACGGGGCGGCTGGCCGGGCGGAAGGGCTGACCCCCCC ACCTCCCTTCCCGGACGGGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0077 a0001c0001t0003g0078	2	312	0.0064	-130	c.191 others(17): Show c.191-3575_191-3446del	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTUS2_chr13_28815339_29510947	29389755	GTGTGTAT others(123): Show GTGTGTATATGTATATACATACATATGTGTGTATATGTATATACATACAT ATGTGTATATATACATACATATGTGTATATATACATACATATGTGTATAT ATACATACATATGTGTATATATACATACATA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	92	0.0109	-130	c.311 others(21): Show c.3117+30292_3117+30421del	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYDGF_chr19_4652545_4675342	4671982	CATATATT others(123): Show CATATATTCACATATGTGAATATATATATTCATATATTCACATATGTGAA TATATATTCATATATTCACATATGTGAATATATATTCATATATTCATATA TACTTATATATTCATATATTCATATATACTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0094	1	410	0.0024	-130	c.-17 others(11): Show c.-1778_-1649del	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1641		chr19	TogoVar
MYZAP_chr15_57586904_57690364	57687441	AATATGTG others(123): Show AATATGTGTGTACAATATACACATATATATAATATGTGTGTACAATATAC ACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATAC ACATATATATGTGTGTACAATATACACATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19077.hp1 NA19009.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0240 a0001c0001t0001g0224 a0001c0001t0001g0240	2	352	0.0057	-130	c.29 others(11): Show c.2944_*3073del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2078		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57687974	TAATGTGT others(123): Show TAATGTGTGTACAATATACACATATATAAATGTGTGTACAATATACACAT ATATAAATGTGTGTACAATATACACATATATAATATGTGTGTACAATATA CACATATATATGTGTGTACAATATACACATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA18971.hp2 HG02976.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0293 a0002c0002t0003g0124 a0001c0001t0001g0293 a0002c0002t0003g0124	2	352	0.0057	-130	c.34 others(11): Show c.3477_*3606del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2611		chr15	TogoVar
NGEF_chr2_232873701_233018256	232995355	ACTGTATA others(123): Show ACTGTATACTGTATATATATACACAGTATGTATACTGTATACTGTATATA TATACACAGTATGTATACTGTATACTGTATATATATACACAGTATGTATA CTGACAGTATACATACTGTATATATACACAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02818.hp1 others(2): Show HG02572.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0003t0010 a0001c0001t0002 a0001c0001t0009 a0001c0003t0010	a0001c0001t0002g0152 a0001c0001t0009g0245 a0001c0003t0010g0022 others(2): Show a0001c0001t0002g0152 a0001c0001t0009g0245 a0001c0003t0010g0022 a0001c0003t0010g0048 a0001c0003t0010g0151	5	362	0.0138	-130	c.-75 others(19): Show c.-75+17583_-75+17712del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993463	CCCCTCTC others(123): Show CCCCTCTCTCCCCCCTCCCTCCCCCTCTCCCCCCTCCCCTCCTCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCTCTCCCCTCCTCTCCTCCCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	350	0.0029	-130	c.55 others(11): Show c.5551_*5680del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4835		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993495	CCTCCCCT others(123): Show CCTCCCCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCTCCTCCCCCCTC CTCCTCTCAACCTCCCCTCTCCCCTCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0293 a0001c0008t0005g0293	1	350	0.0029	-130	c.55 others(11): Show c.5583_*5712del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4867		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149971	TCACACCA others(123): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0215 a0001c0005t0001g0215	1	294	0.0034	-130	c.902 others(16): Show c.902-1009_902-880del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NR3C1_chr5_143272934_143408686	143284951	TAATTTAT others(123): Show TAATTTATGGGTCAGACTACTGGAAACGAAGGAGGTACACAAAGAAAGGC CTCCAGAAATCTGTACAATTTATGGGTCAGACTACTGGAAACGAAGGAGG TACACAAAGAAAGGCCTCCAGAAATCTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG02055.hp2 others(5): Show HG00741.hp1 HG01884.hp1 HG02055.hp2 HG02965.hp2 HG03130.hp2 HG03453.hp1 NA18522.hp2 NA18988.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0002t0017 a0002c0007t0011 a0001c0001t0001 a0001c0002t0017 a0002c0007t0011	a0001c0001t0001g0066 a0001c0001t0001g0119 a0001c0001t0001g0120 others(5): Show a0001c0001t0001g0066 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0002t0017g0034 a0002c0007t0011g0254 a0002c0007t0011g0255	8	266	0.0301	-130	c.202 others(19): Show c.2024-2356_2024-2227del	NR3C1	ENSG00000113580.15	transcript	ENST00000394464.7	protein_coding	7/8			chr5	TogoVar
NRIP3_chr11_8975576_9009001	8978216	GCAGCCAC others(123): Show GCAGCCACCCCGACCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01346.hp2 HG01891.hp1 others(26): Show HG00741.hp2 HG01346.hp2 HG01891.hp1 HG02258.hp2 HG02523.hp2 HG02622.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03927.hp1 NA18747.hp1 NA18947.hp2 NA18948.hp1 NA18953.hp2 NA18968.hp2 NA18981.hp1 NA18989.hp1 NA18998.hp2 NA19005.hp1 NA19006.hp2 NA19043.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0032 others(2): Show a0001c0001t0005 a0001c0001t0020 a0001c0001t0032 a0001c0001t0037 a0001c0001t0051	a0001c0001t0005g0003 a0001c0001t0005g0044 a0001c0001t0005g0045 others(17): Show a0001c0001t0005g0003 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0143 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0020g0206 a0001c0001t0020g0209 a0001c0001t0020g0211 a0001c0001t0032g0220 a0001c0001t0037g0212 a0001c0001t0051g0214	29	406	0.0714	-130	c.51 others(11): Show c.5199_*5328del	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		2359		chr11	TogoVar
ODF3_chr11_191761_205258	196445	ACATGGGG others(123): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGAGGACATGGGTGG GGAGCCTTGGTGAGGGGACCTGGTGAGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	388	0.0026	-130	c.-60 others(9): Show c.-609_-480del	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		315		chr11	TogoVar
OTOGL_chr12_80094537_80385880	80307887	CCCTCCCG others(123): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGAGCGGCTGGCCGGGCAGAGGGGCTCCTCAGTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02280.hp1 HG02451.hp2 others(1): Show HG01261.hp1 HG02280.hp1 HG02451.hp2 HG02976.hp2	a0003 a0004 a0014 a0003 a0004 a0014	a0003c0008 a0004c0016 a0014c0015 a0003c0008 a0004c0016 a0014c0015	a0003c0008t0005 a0004c0016t0003 a0014c0015t0005 a0003c0008t0005 a0004c0016t0003 a0014c0015t0005	a0003c0008t0005g0077 a0004c0016t0003g0142 a0014c0015t0005g0130 others(1): Show a0003c0008t0005g0077 a0004c0016t0003g0142 a0014c0015t0005g0130 a0014c0015t0005g0131	4	168	0.0238	-130	c.333 others(19): Show c.3333+2195_3333+2324del	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	29/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF3_chr4_700832_775089	717103	TGGGACCC others(123): Show TGGGACCCTGTAGACACTGAATGTGAGAACTGAGCGTCGGTGCTGGGACC CTGTAGACACTGAATGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGA CACTGAGTGTGAGAACTGAGCGTCGGTGCTG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	366	0.0027	-130	c.-19 others(21): Show c.-190+11136_-190+11265del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE11A_chr2_177618244_178077777	177947040	CCGCCCCG others(123): Show CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGAAGGGAGGG AGGTGGGGGGGTCAGCCCCCTGCCCGGCCGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00609.hp2 others(32): Show HG00099.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01169.hp2 HG01258.hp1 HG01978.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG02896.hp2 HG02970.hp1 HG03041.hp1 HG03490.hp1 HG03579.hp2 HG03942.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18966.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp2 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0010 a0012	a0001c0003 a0001c0005 a0001c0017 others(5): Show a0001c0003 a0001c0005 a0001c0017 a0002c0004 a0003c0008 a0005c0007 a0010c0019 a0012c0031	a0001c0003t0002 a0001c0003t0003 a0001c0003t0015 others(21): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0015 a0001c0003t0029 a0001c0003t0030 a0001c0003t0032 a0001c0005t0053 a0001c0005t0065 a0001c0017t0002 a0002c0004t0001 a0002c0004t0004 a0002c0004t0020 a0002c0004t0039 a0002c0004t0040 a0002c0004t0041 a0002c0004t0042 a0002c0004t0044 a0003c0008t0010 a0003c0008t0017 a0003c0008t0050 a0005c0007t0003 a0005c0007t0011 a0010c0019t0001 a0012c0031t0001	a0001c0003t0002g0128 a0001c0003t0003g0133 a0001c0003t0003g0134 others(32): Show a0001c0003t0002g0128 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0015g0140 a0001c0003t0029g0132 a0001c0003t0030g0123 a0001c0003t0032g0120 a0001c0005t0053g0015 a0001c0005t0065g0017 a0001c0017t0002g0014 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0124 a0002c0004t0001g0125 a0002c0004t0001g0130 a0002c0004t0001g0139 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0004g0116 a0002c0004t0020g0131 a0002c0004t0020g0136 a0002c0004t0039g0118 a0002c0004t0040g0129 a0002c0004t0041g0122 a0002c0004t0042g0137 a0002c0004t0044g0114 a0003c0008t0010g0166 a0003c0008t0017g0162 a0003c0008t0050g0163 a0005c0007t0003g0158 a0005c0007t0003g0159 a0005c0007t0003g0160 a0005c0007t0011g0161 a0010c0019t0001g0113 a0012c0031t0001g0164	35	170	0.2059	-130	c.107 others(21): Show c.1072-41983_1072-41854del	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PFKP_chr10_3062548_3141802	3106196	AGGGAGGC others(123): Show AGGGAGGCAGAAAGCATGGCGTGCACGGGGCGCCTGTGGGGCGTCCACCT GTGTGTCCTTCCCCATGGGAGGCAGAAAGCATGGCGTGCACGGGGCGCCT GTGGGGCGTCCACCTGTGTGTCCTTCCCCAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(60): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02109.hp1 HG02135.hp2 HG02148.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03540.hp1 HG03704.hp1 NA18612.hp1 NA18957.hp1 NA18979.hp2 NA18986.hp1 NA18993.hp1 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19030.hp1 NA19058.hp2 NA19063.hp2 NA20300.hp2 NA20905.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0029 a0001c0031 a0001c0041 a0001c0059 a0001c0060 a0005c0063 a0006c0061	a0001c0001t0003 a0001c0002t0010 a0001c0003t0007 others(26): Show a0001c0001t0003 a0001c0002t0010 a0001c0003t0007 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0004t0007 a0001c0004t0008 a0001c0006t0007 a0001c0007t0005 a0001c0009t0001 a0001c0009t0007 a0001c0009t0014 a0001c0012t0002 a0001c0012t0003 a0001c0012t0004 a0001c0015t0001 a0001c0015t0013 a0001c0017t0011 a0001c0018t0005 a0001c0019t0004 a0001c0029t0001 a0001c0031t0001 a0001c0041t0010 a0001c0059t0004 a0001c0060t0003 a0005c0063t0005 a0006c0061t0003	a0001c0001t0003g0002 a0001c0002t0010g0023 a0001c0003t0007g0157 others(60): Show a0001c0001t0003g0002 a0001c0002t0010g0023 a0001c0003t0007g0157 a0001c0004t0002g0001 a0001c0004t0002g0137 a0001c0004t0002g0152 a0001c0004t0003g0069 a0001c0004t0003g0072 a0001c0004t0003g0074 a0001c0004t0003g0090 a0001c0004t0003g0142 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0004g0234 a0001c0004t0004g0237 a0001c0004t0004g0238 a0001c0004t0004g0359 a0001c0004t0006g0049 a0001c0004t0006g0064 a0001c0004t0006g0153 a0001c0004t0006g0293 a0001c0004t0007g0079 a0001c0004t0007g0398 a0001c0004t0007g0399 a0001c0004t0008g0087 a0001c0004t0008g0098 a0001c0004t0008g0328 a0001c0006t0007g0402 a0001c0007t0005g0031 a0001c0009t0001g0043 a0001c0009t0001g0054 a0001c0009t0001g0091 a0001c0009t0001g0096 a0001c0009t0001g0125 a0001c0009t0001g0224 a0001c0009t0001g0322 a0001c0009t0007g0081 a0001c0009t0014g0086 a0001c0012t0002g0041 a0001c0012t0002g0100 a0001c0012t0003g0243 a0001c0012t0003g0247 a0001c0012t0004g0242 a0001c0015t0001g0028 a0001c0015t0001g0073 a0001c0015t0001g0075 a0001c0015t0001g0379 a0001c0015t0013g0066 a0001c0017t0011g0396 a0001c0018t0005g0012 a0001c0018t0005g0071 a0001c0018t0005g0174 a0001c0018t0005g0241 a0001c0019t0004g0083 a0001c0019t0004g0084 a0001c0029t0001g0304 a0001c0031t0001g0027 a0001c0031t0001g0042 a0001c0041t0010g0173 a0001c0059t0004g0240 a0001c0060t0003g0395 a0005c0063t0005g0245 a0006c0061t0003g0288	63	402	0.1567	-130	c.774 others(15): Show c.774+830_775-754del	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGPEP1L_chr15_98963229_99012792	98970145	TTCAAGTG others(123): Show TTCAAGTGATTATCCTGCCTCAGCCTCCCGAGTAGCGGGGACTACAGGTG CACCACGCCCAGCTAATTTTTGTATTTGTAGTAGAGATGGGATTTCACCA TGTTGGCCAGGCTGGTCTCAAACTCCTGACC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	398	0.0025	-130	c.-18 others(15): Show c.-18-624_-18-495del	PGPEP1L	ENSG00000183571.11	transcript	ENST00000535714.2	protein_coding	3/4			chr15	TogoVar
PID1_chr2_229018973_229276287	229138985	AAGAAAGA others(123): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03471.hp1 NA18906.hp1 HG02723.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0002t0014 a0001c0001t0001 a0001c0001t0009 a0001c0002t0014	a0001c0001t0001g0199 a0001c0001t0009g0001 a0001c0002t0014g0044 a0001c0001t0001g0199 a0001c0001t0009g0001 a0001c0002t0014g0044	3	256	0.0117	-130	c.177 others(19): Show c.177+16703_177+16832del	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
POLE_chr12_132618762_132692342	132684182	GTATCACA others(123): Show GTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTA CCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCT CATTCACAGAGCTACCATTGACTGGTTACTA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	292	0.0034	-130	c.62+ others(15): Show c.62+2942_63-2904del	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48			chr12	TogoVar
PPP1R9A_chr7_94902594_95301400	95048923	ATTTCAGT others(123): Show ATTTCAGTTATATCTATAAATTTACAAATACTGAGAAGTAAAAATGACTT GGGCATTTCAAAATCATGTTCTACAATGTATTGAACAGTTGAAAAATAAA GCAAAAGAGAATAAAACAAACACAAACAAGC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0153 a0004c0005t0003g0153	1	290	0.0035	-130	c.139 others(21): Show c.1396-62335_1396-62206del	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19			chr7	TogoVar
PPP2R2C_chr4_6315581_6477614	6353673	CCCCCCCA others(123): Show CCCCCCCACACTGACAACCCCCAACACCGACAGCCCCCCACACCGACAGC CCCACACACCAACAGCCCCCCACACCGACAGCCCCCAACACCGACAGCCC CCAACACCGACAGCCCCACACACCAACAGCG	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	298	0.0034	-130	c.626 others(17): Show c.626-5793_626-5664del	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8			chr4	TogoVar
PRDM15_chr21_41793225_41884344	41855943	TCCTTCCC others(123): Show TCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCC TCCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTT CCTTTCCTTCCTTCCCTCCCTCCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02056.hp2 HG02132.hp1 others(16): Show HG01167.hp2 HG02056.hp2 HG02132.hp1 HG02451.hp1 HG02615.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03041.hp2 HG03471.hp1 HG03834.hp1 HG04199.hp2 HG04228.hp1 NA18984.hp2 NA18993.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(9): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0037 a0001c0057 a0001c0058 a0002c0007	a0001c0001t0004 a0001c0001t0014 a0001c0001t0028 others(12): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0028 a0001c0002t0002 a0001c0006t0006 a0001c0006t0009 a0001c0008t0001 a0001c0009t0008 a0001c0010t0012 a0001c0013t0001 a0001c0014t0003 a0001c0037t0003 a0001c0057t0028 a0001c0058t0042 a0002c0007t0005	a0001c0001t0004g0253 a0001c0001t0014g0154 a0001c0001t0028g0021 others(16): Show a0001c0001t0004g0253 a0001c0001t0014g0154 a0001c0001t0028g0021 a0001c0002t0002g0347 a0001c0006t0006g0344 a0001c0006t0006g0345 a0001c0006t0009g0316 a0001c0008t0001g0132 a0001c0009t0008g0295 a0001c0009t0008g0365 a0001c0010t0012g0397 a0001c0013t0001g0339 a0001c0013t0001g0362 a0001c0014t0003g0123 a0001c0014t0003g0346 a0001c0037t0003g0007 a0001c0057t0028g0067 a0001c0058t0042g0068 a0002c0007t0005g0051	19	406	0.0468	-130	c.285 others(17): Show c.285+1103_286-1126del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41855950	CTCCCTCC others(123): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTC CCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCC TTCCTTCCCTCCCTCCCCTCCCTCCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA21309.hp1 HG00558.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0007 a0001c0006 a0002c0007	a0001c0006t0013 a0002c0007t0005 a0001c0006t0013 a0002c0007t0005	a0001c0006t0013g0353 a0002c0007t0005g0210 a0001c0006t0013g0353 a0002c0007t0005g0210	2	406	0.0049	-130	c.285 others(17): Show c.285+1096_286-1133del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRKCZ_chr1_2045411_2190395	2122991	AGGGTCGT others(123): Show AGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGT TAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGG TTAGGGTCACGGTGGTGGTTAGGGTCACGGT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	286	0.0035	-130	c.335 others(19): Show c.335-12268_335-12139del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGR1_chr9_111557567_111604647	111560980	GAGAGAGA others(123): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGTGGCAGTGAG TGGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCAT CTAAAATATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02300.hp1 HG02615.hp1 others(1): Show HG00099.hp1 HG02300.hp1 HG02615.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0103 others(1): Show a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0103 a0002c0002t0002g0228	4	408	0.0098	-130	c.20 others(11): Show c.2011_*2140del	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1586		chr9	TogoVar
PUM1_chr1_30926506_31070717	30972337	GGGAGGGG others(123): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03704.hp1 NA20905.hp2 HG02735.hp1 HG03704.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0175 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0175	3	334	0.0090	-130	c.150 others(19): Show c.1506+2184_1506+2313del	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PXDN_chr2_1626887_1749515	1706657	TTCACCAA others(123): Show TTCACCAATCAGCTCTAAGCATCGCCTGCCCCACTAATAATACAACCTGA GAGCACGCTGCAGTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACT AATAATACAATCCGAGAGCACACTTCAGTGA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02273.hp1 HG02280.hp2 others(2): Show HG01928.hp2 HG02273.hp1 HG02280.hp2 HG02602.hp1 HG04115.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0036 a0006c0025 a0001c0001 a0004c0036 a0006c0025	a0001c0001t0001 a0004c0036t0003 a0006c0025t0020 a0001c0001t0001 a0004c0036t0003 a0006c0025t0020	a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 a0004c0036t0003g0036 a0006c0025t0020g0172	5	322	0.0155	-130	c.201 others(19): Show c.201-13653_201-13524del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1707287	TCTGAGAG others(123): Show TCTGAGAGCACGCTTCAGTGTTCAGCGATCAGCTCTAAACATCACCTGCC CCACTAATAATACAAACTGAGAGCACGCTGCAGTGCTCACCAATCAGCTC TAAGCATCACCTGCCCCACTAATAATACAAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02602.hp2 HG03239.hp2 others(1): Show HG00741.hp2 HG02602.hp2 HG03239.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0003 a0001c0003t0001 a0001c0001t0002 a0001c0002t0003 a0001c0003t0001	a0001c0001t0002g0140 a0001c0002t0003g0142 a0001c0003t0001g0035 others(1): Show a0001c0001t0002g0140 a0001c0002t0003g0142 a0001c0003t0001g0035 a0001c0003t0001g0141	4	322	0.0124	-130	c.201 others(19): Show c.201-14283_201-14154del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132684182	GTATCACA others(123): Show GTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTA CCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCT CATTCACAGAGCTACCATTGACTGGTTACTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG03688.hp1 HG01978.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0163 a0001c0001t0001g0034 a0001c0001t0001g0163	2	350	0.0057	-130	c.-34 others(11): Show c.-3488_-3359del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		3404		chr12	TogoVar
RBFOX1_chr16_6014024_7718340	7186239	TATATAAA others(123): Show TATATAAACATAAACATATTTATATAAACATAAACATAAACATATTTATA TAAATATAAACATAAACATATTTATATAAATATAAACATAAACATATTTA TATAAATATAAACATAAACATATTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02738.hp1 HG03195.hp2 others(1): Show HG00741.hp2 HG02738.hp1 HG03195.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0022 a0001c0004t0001 a0001c0001t0002 a0001c0001t0022 a0001c0004t0001	a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0022g0009 others(1): Show a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0022g0009 a0001c0004t0001g0060	4	68	0.0588	-130	c.27+ others(19): Show c.27+134169_27+134298del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFX8_chr2_101392359_101480112	101468980	ATATATAT others(123): Show ATATATATATAAGTATATATATACGTATATATATATAGGTATATATATAT ACGTATATATATGTATATATATATACGTATATATATGTATATATATATAA GTGTATATATATAAGTATATATATATAAGTG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	352	0.0028	-130	c.-52 others(17): Show c.-52-2210_-52-2081del	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	1/11			chr2	TogoVar
RORA_chr15_60483284_61234302	60816082	GTATACTG others(123): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp2 HG01891.hp1 others(2): Show HG01099.hp2 HG01515.hp2 HG01891.hp1 HG02055.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0004t0019	a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0009g0043 others(2): Show a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0009g0043 a0001c0001t0010g0048 a0001c0004t0019g0006	5	118	0.0424	-130	c.167 others(21): Show c.167-137526_167-137397del	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	287765	GCACTCTC others(123): Show GCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTCTCCACCGTCAGA CCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGACA GACCTCACACTCTCTCTCCACCGACAGAGCT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03831.hp2 HG02071.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0091 a0001c0002t0007g0112 a0001c0001t0001g0091 a0001c0002t0007g0112	2	133	0.0150	-130	c.352 others(17): Show c.352-6041_352-5912del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288141	TCTCTCCA others(123): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGGCCTC ACACCCTCTCTCCACCGTCAGACCTCACACC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	133	0.0075	-130	c.352 others(17): Show c.352-6417_352-6288del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80613601	TGTGTTGT others(123): Show TGTGTTGTGTGGACACAGGTGCTCTCTATGGTTGAATGAAGTGGTGTTGG ACTCGGGCTGGGCCGCGTGTTGTGTGGACACAGGTGCTCTCTGTTGTTGA ATGAAGTGGTGTTGGACTCGGGCTGGGCCGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02109.hp2 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0065 a0001c0009 a0001c0065	a0001c0009t0012 a0001c0065t0007 a0001c0009t0012 a0001c0065t0007	a0001c0009t0012g0103 a0001c0065t0007g0101 a0001c0009t0012g0103 a0001c0065t0007g0101	2	196	0.0102	-130	c.163 others(19): Show c.163-12026_163-11897del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626529	ATGTGTCA others(123): Show ATGTGTCATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0157 a0001c0001t0014g0157	1	202	0.0050	-130	c.-22 others(11): Show c.-2294_-2165del	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1868		chr7	TogoVar
SAFB2_chr19_5581999_5627776	5593490	CTCTGCCT others(123): Show CTCTGCCTCTCTGTCTACAAGGACACATGAGACCGGCAGAGTCAGCGGTG GCCAACTTGGGCCTAACGGGCGTTCGGTTGTCTCGCAAGACAGAGAACAG CTATGCTCCACGGGTAAGTGGAGAGGAAAAG	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	350	0.0029	-130	c.220 others(17): Show c.2207+271_2207+400del	SAFB2	ENSG00000130254.12	transcript	ENST00000252542.9	protein_coding	15/20			chr19	TogoVar
SARDH_chr9_133658560_133743352	133668945	TCCCTCAC others(123): Show TCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTC CCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CTTACCCTCCCTCTCCCTCACCCTCCATCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0101 a0001c0011t0001g0101	1	262	0.0038	-130	c.249 others(19): Show c.2495+1509_2495+1638del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP5_chr15_74990563_75026495	74990984	CTCTTTCT others(123): Show CTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp2 others(73): Show HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01256.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02965.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18997.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19082.hp2 NA19086.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 a0001c0003t0004	a0001c0001t0001g0061 a0001c0002t0002g0007 a0001c0002t0002g0008 others(58): Show a0001c0001t0001g0061 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0009g0076 a0001c0002t0014g0073 a0001c0003t0004g0068	76	370	0.2054	-130	c.-47 others(11): Show c.-4737_-4608del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4578		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990996	CTTTCTTT others(123): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG02015.hp1 others(1): Show HG00438.hp1 HG00609.hp1 HG02015.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0217 a0001c0001t0003g0003 a0001c0001t0003g0006 others(1): Show a0001c0001t0001g0217 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0231	4	370	0.0108	-130	c.-47 others(11): Show c.-4725_-4596del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4566		chr15	TogoVar

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