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
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(199): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp1 NA21309.hp1 HG02647.hp1 HG03225.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0009 a0001c0002t0006 a0001c0002t0009	a0001c0002t0006g0179 a0001c0002t0006g0180 a0001c0002t0009g0173 a0001c0002t0006g0179 a0001c0002t0006g0180 a0001c0002t0009g0173	3	87	0.0345	206	c.107 others(225): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MINAR1_chr15_79427336_79477304	79438239	G G	GGGTGGGT others(199): Show GGGTGGGTAGTGTGTGGGGTGTGTGTAGGTAGTGAGTGTATGGGTGTGGG TGGGGTGGGTAGTGTGTGGGATGTGGGGTGTGTGTAGGTAGTGTGTGGGT GTGGGTGGGATGGGTAGTAAGGGTGTGTGTAGGTAGTGAGTGTGTGGGGT GTGGGGTGGGTAGTGAGTGTGTGGGTGTGGGTGGGGTGGGCAGTGAGTGT GTGGGGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	384	0.0026	206	c.-51 others(223): Show c.-51+5699_-51+5700insGGTGGGTAGTGTGTGGGGTGTGTGTAGG TAGTGAGTGTATGGGTGTGGGTGGGGTGGGTAGTGTGTGGGATGTGGGGT GTGTGTAGGTAGTGTGTGGGTGTGGGTGGGATGGGTAGTAAGGGTGTGTG TAGGTAGTGAGTGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGTGTG GGTGGGGTGGGCAGTGAGTGTGTGGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3			chr15	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AGAAAGGG others(199): Show AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAG GGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0201 a0001c0007t0002g0201	1	131	0.0076	206	c.225 others(223): Show c.225-2157_225-2156insAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGA GGAGAGAGAGAGGGAAAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH2A_chr2_233773330_233838418	233787916	A A	ATATACAT others(199): Show ATATACATATATATTATATATACATATATATTATATATACATATATATTA TATATATACATATATATTATATATACATATATATTATATATATACATATA TATTATATATACATATATATTATATATACATATATATTATATATATACAT ATATATTATATATACATATATATTATATATACATATATATTATATATACA TATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG02809.hp1 HG02922.hp1	a0021 a0038 a0021 a0038	a0021c0175 a0038c0057 a0021c0175 a0038c0057	a0021c0175t0001 a0038c0057t0001 a0021c0175t0001 a0038c0057t0001	a0021c0175t0001g0186 a0038c0057t0001g0058 a0021c0175t0001g0186 a0038c0057t0001g0058	2	346	0.0058	206	c.277 others(223): Show c.277-1577_277-1576insCATATATATTATATATACATATATATTA TATATACATATATATTATATATATACATATATATTATATATACATATATA TTATATATATACATATATATTATATATACATATATATTATATATACATAT ATATTATATATATACATATATATTATATATACATATATATTATATATACA TATATATTATATATACATATATATTATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787925	T T	TATATATT others(199): Show TATATATTATATATACATATATATTATATATACATATATATTATATATAT ACATATATATTATATATACATATATTATATATATACATATATATTATATA TACATATATATTATATATACATATATATTATATATATACATATATATTAT ATATACATATATATTATATATACATATATATTATATATACATATATATTA TATATAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0011 a0011	a0011c0031 a0011c0031	a0011c0031t0001 a0011c0031t0001	a0011c0031t0001g0054 a0011c0031t0001g0054	1	233	0.0043	206	c.277 others(223): Show c.277-1534_277-1533insATTATATATATACATATATATTATATAT ACATATATTATATATATACATATATATTATATATACATATATATTATATA TACATATATATTATATATATACATATATATTATATATACATATATATTAT ATATACATATATATTATATATACATATATATTATATATACATATATTATA TATACATATATATTATATATACATATAT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(199): Show TGTATATATATATATGTATATATATATGTATATATATGTATATATATATA TGTATATATATATGTATATATATATGTATATATATGTATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATGTGTATA TATATGTATATATATATGTATATATATGTATATATATATATGTATATATA TATATAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0067 a0002c0003t0001g0067	1	59	0.0169	206	c.484 others(221): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATACATATATATACACATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATACATATATAT ACATATATATATACATATATATATACATATATATATATACATATATATAC ATATATATATACATATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(199): Show TGTATATATATATATGTATATATATATGTATATATATGTATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATATGTATA TATATATGTATATATATATGTATATATATATGTATATATATGTGTATATA TATGTATATATATATATGTATATATATGTATATATATATATGTATATATA TATATAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19091.hp2 NA18984.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0030	2	60	0.0333	206	c.484 others(221): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATACATATATATAC ATATATATATACATATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(199): Show TGTATATATATATGTATATATATATGTATATATATGTATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATATGTATA TATATATGTATATATATATGTATATATATATGTATATATATGTGTATATA TATGTATATATATATATGTATATATATGTATATATATATATGTATATATA TATATAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0075 a0002c0003t0001g0075	1	59	0.0169	206	c.484 others(221): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATACATATATAT ACATATATATATACATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSH3_chr5_80649652_80881815	80693151	A A	AGATAAAT others(199): Show AGATAAATATACATGCACATGTATATGTTTAGATAAATATACATGCACAT GTATATGTTTAGATAAATATACATGCACATGTATATGTTTAGATAAATAT ACATGCACATGTATATGTTTAGATAAATATACATGCACATGTATATGTTT AGATAAATATACATGCACATGTATATGTTTAGATAAATATACATGCACAT GTATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0358 a0005c0006t0003g0358	1	354	0.0028	206	c.134 others(227): Show c.1340+14058_1340+14059insGATAAATATACATGCACATGTATA TGTTTAGATAAATATACATGCACATGTATATGTTTAGATAAATATACATG CACATGTATATGTTTAGATAAATATACATGCACATGTATATGTTTAGATA AATATACATGCACATGTATATGTTTAGATAAATATACATGCACATGTATA TGTTTAGATAAATATACATGCACATGTATATG	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23			chr5	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATACATAT others(199): Show ATACATATAAAATCTTTATATATATTTTATATATATAAAATCTTTATATA TATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTT TATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATAT ATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATA TATATTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0074 a0001c0001t0022g0074	1	277	0.0036	206	c.-5+ others(221): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTA AGATTTTATATATATAAAATATATATAAAGATTTTATATATATAAAATAT ATATAAAGATTTTATATATATAAAATATATATAAAGATTTTATATATATA AAATATATATAAAGATTTTATATGTA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATATAT others(199): Show ATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTTATATA TATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTT TATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATAT ATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATA TATATTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG06807.hp2 HG01884.hp2 HG02257.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0007 a0001c0006t0002 a0004c0005t0004 a0001c0001t0007 a0001c0006t0002 a0004c0005t0004	a0001c0001t0007g0080 a0001c0006t0002g0076 a0004c0005t0004g0078 a0001c0001t0007g0080 a0001c0006t0002g0076 a0004c0005t0004g0078	3	279	0.0108	206	c.-5+ others(221): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTA AGATTTTATATATATAAAATATATATAAAGATTTTATATATATAAAATAT ATATAAAGATTTTATATATATAAAATATATATAAAGATTTTATATATATA AAATATATATAAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAAGAAGA others(199): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAG AAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAGGAGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	161	0.0062	206	c.677 others(221): Show c.677+224_677+225insCCTCCTCCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MUSK_chr9_110663791_110811558	110681001	T T	TTATATTA others(199): Show TTATATTATATATTATATTATATTATATTATATATATTATATTATATATA TAATATTATATATATTATATATTATATAATATATTATATAATATATATTA TATAATATATATAATATTATATATATTATATAATATATATTATATATAAT ATATATTATATAATATATAATATATATAATATTATATATATAGTATAATA TATAATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0010 a0004c0024t0010	a0004c0024t0010g0043 a0004c0024t0010g0043	1	324	0.0031	206	c.80- others(221): Show c.80-1661_80-1660insTATATTATATTATATTATATATATTATATT ATATATATAATATTATATATATTATATATTATATAATATATTATATAATA TATATTATATAATATATATAATATTATATATATTATATAATATATATTAT ATATAATATATATTATATAATATATAATATATATAATATTATATATATAG TATAATATATAATATATATTATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA8_chr1_1347691_1363555	1351134	C C	CGGGGGGG others(199): Show CGGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGGA GTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGGAGTGAGGAGGGGGCCTGGA CGGGGCAGGAGCGACGGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	336	0.0030	206	c.24 others(217): Show c.2469_*2470insCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCAC TCCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCCG TCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCCGTCGCTCCTG CCCCGTCCAGGCCCCCTCCTCACTCCCCCCCGTCGCTCCTGCCCCGTCCA GGCCCCCTCCTCACTCCCCCCC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1556		chr1	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(199): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATATTATATATAATATATAATATATATTATATATAATATATA ATATATATTATATATTATAATATATAATATATATTATATATATAATATAT ATTATATATAATATATATTATATATATATAATATATATAATATATATTTT AAATATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	50	0.0200	206	c.547 others(223): Show c.5473-422_5473-421insTATATTTAAAATATATATTATATATATT ATATATATATAATATATATTATATATAATATATATTATATATATAATATA TATTATATATTATAATATATAATATATATTATATATTATATATAATATAT ATTATATATTATATATAATATATATTATATATATAATATATATTATATAT ATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYT1_chr20_64159452_64247253	64173699	T T	TTGTAGTT others(199): Show TTGTAGTTGTGTCCATTTTCCCTCCCTGACTTCTCCTCCTGCAGCATCTT TCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCCT TCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCAT CTTTCCTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCAT CTTTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	149	0.0067	206	c.-99 others(223): Show c.-99+8977_-99+8978insTCCCTCCCTGACTTCTCCTCCTGCAGCA TCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCA TCCTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCA GCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174698	C C	CCTGTAGT others(199): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCT TTCCCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	166	0.0060	206	c.-99 others(223): Show c.-99+9959_-99+9960insCTGTAGTTGTGTCCATTTCCCCTCCCTG GCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCC TCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCC TCCCTGGCTTCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(199): Show CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	202	0.0050	206	c.148 others(225): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(199): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTAC TGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	202	0.0050	206	c.148 others(225): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFV3_chr21_42888309_42918299	42894362	A A	ATATATAT others(199): Show ATATATATTATATATAATATATATTATATTAAATATATATAATATATATT ATATATAATATATATTATATATAATATATATTATATATAATATATATTAT ATATAATATATATTATATATAATATATATTATATATAATATATATTAAAT ATAATATATATAATATATATTAAATATAATATATATTAAATATAATATAT ATTATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0021 a0001c0001t0029g0021	2	297	0.0067	206	c.48+ others(219): Show c.48+988_48+989insTATATATAATATATATTATATTAAATATATAT AATATATATTATATATAATATATATTATATATAATATATATTATATATAA TATATATTATATATAATATATATTATATATAATATATATTATATATAATA TATATTAAATATAATATATATAATATATATTAAATATAATATATATTAAA TATAATATATATTATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEDD4L_chr18_58039226_58406539	58171438	G G	GCCCGCCT others(199): Show GCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTC ATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCA GCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGG GACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGATGACAGAACA CTGCTGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19060.hp2 HG02056.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0031 a0001c0005t0048 a0001c0001t0031 a0001c0005t0048	a0001c0001t0031g0015 a0001c0005t0048g0070 a0001c0001t0031g0015 a0001c0005t0048g0070	2	87	0.0230	206	c.122 others(223): Show c.122+5580_122+5581insGCCTCATCACCCCAGCCCAAGGGGACAG AACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCT GCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTC ATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCA GCCCAAGATGACAGAACACTGCTGCCCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCC others(199): Show CCCCCCCCTCTCCCCCCCTCCCCCACCTCTCCCCCTCTCCCCCCCTCCCC CCTCCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCC CTCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCTCCCCTCCCCTCCCCC CCTCCCCCTCCCCTCCCTCCCTCCCCCTCCCCCTCCCCTCCCTCCCTCCC CCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0011 a0005c0005t0011	a0005c0005t0011g0157 a0005c0005t0011g0157	1	299	0.0033	206	c.55 others(217): Show c.5595_*5596insCCCCCCCTCTCCCCCCCTCCCCCACCTCTCCCCC TCTCCCCCCCTCCCCCCTCCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCC CTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCT CCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCTCCCTCCCCCTCCCCCTC CCCTCCCTCCCTCCCCCTCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NTM_chr11_131365615_132341822	132069720	C C	CACTGACC others(199): Show CACTGACCGTCACAGGTTAGTTTACACGTCACACAGCCAAAACACGTCAA ACTGACCATCACAGGTTAGTTAACATGTCACACAGCCAAGTTAACACGTC AAACTGACGATCACAGGTTAGTTTACACGTCACACAGCCAAAACACGTCA AACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAAGTAAGTTAAC ACGTCAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	70	0.0143	206	c.168 others(225): Show c.168-76555_168-76554insGTCACAGGTTAGTTTACACGTCACAC AGCCAAAACACGTCAAACTGACCATCACAGGTTAGTTAACATGTCACACA GCCAAGTTAACACGTCAAACTGACGATCACAGGTTAGTTTACACGTCACA CAGCCAAAACACGTCAAACTGACCATCACAGGTTAGTTAACACGTCACAC AGCCAAGTAAGTTAACACGTCAAACTGACC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62755413	T T	TCCATCCA others(199): Show TCCATCCATCCTCCCTCCCTCCCTCCCTCCATCCCTCCCTCCATCCATCC ATCCTCCCTCCCTCCCTCCATCCATCCTCCCTCCCTCTCTCCATCCCTCA TTCCATCCCTCCCCGATCCATCCCTCATTCCATCCCTCCCTCTCTCCCTC CCTCCATTCATCCATCCATTGTCCCTCCCTCCCTCCATCCATCCTCCCTC CTCTCTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0029 a0001c0001t0011g0029	1	10	0.1000	206	c.916 others(221): Show c.916+528_916+529insCATCCATCCTCCCTCCCTCCCTCCCTCCAT CCCTCCCTCCATCCATCCATCCTCCCTCCCTCCCTCCATCCATCCTCCCT CCCTCTCTCCATCCCTCATTCCATCCCTCCCCGATCCATCCCTCATTCCA TCCCTCCCTCTCTCCCTCCCTCCATTCATCCATCCATTGTCCCTCCCTCC CTCCATCCATCCTCCCTCCTCTCTCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(199): Show TCCCCCCGGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC CCCCCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0232 a0001c0003t0002g0232	1	72	0.0139	206	c.360 others(225): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGCGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGGGGGAGAGGAGGAGGCCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODAD3_chr19_11415605_11440121	11424965	A A	ATATATAC others(199): Show ATATATACCTATGTGTATATATACCTATGTGTATATATACCTATGTGTAT ATATACCTATGTGTATATATACCTATGTGTATATATACCTATGTGTATAT ATACCTATGTGTATATATACATATGTGTATATATACCTATGTGTATATAT ACATATGTGTATATATACCTATGTGTATATATACATATGTGTATATATAC CTATGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	389	0.0026	206	c.964 others(221): Show c.964-937_964-936insCACATAGGTATATATACACATATGTATATA TACACATAGGTATATATACACATATGTATATATACACATAGGTATATATA CACATATGTATATATACACATAGGTATATATACACATAGGTATATATACA CATAGGTATATATACACATAGGTATATATACACATAGGTATATATACACA TAGGTATATATACACATAGGTATATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OR11H4_chr14_20234286_20249349	20236553	A A	ATTATATA others(199): Show ATTATATAAATATATAGTATATATATTTATATTATATAAATATATAGTAT ATATATTTATATTATATAAATATATAGTATATATATTTATATTATATAAA TATATAGTATATATATTTATATTATATAAATATATAGTATATATATTTAT ATTATATAAATATATAGTATATATATTTATATTATATAAATATATAGTAT ATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	425	0.0024	206	c.-27 others(217): Show c.-2790_-2789insTTATATAAATATATAGTATATATATTTATATTAT ATAAATATATAGTATATATATTTATATTATATAAATATATAGTATATATA TTTATATTATATAAATATATAGTATATATATTTATATTATATAAATATAT AGTATATATATTTATATTATATAAATATATAGTATATATATTTATATTAT ATAAATATATAGTATATATATT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2732		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20236553	A A	ATTATATA others(199): Show ATTATATAAATATATAGTATATATATTTATATTATATAAATATATAGTAT ATATATTTATATTATATAAATATATAGTATATATATTTATATTATATAAA TATATAGTATATATATTTATATTATATAAATATATAGTATATATATTTAT ATTATATAAATATATAGTATATATATTTATATTATATAAATATATAGTAT ATATGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	425	0.0024	206	c.-27 others(217): Show c.-2790_-2789insTTATATAAATATATAGTATATATATTTATATTAT ATAAATATATAGTATATATATTTATATTATATAAATATATAGTATATATA TTTATATTATATAAATATATAGTATATATATTTATATTATATAAATATAT AGTATATATATTTATATTATATAAATATATAGTATATATATTTATATTAT ATAAATATATAGTATATATGTT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2732		chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83950364	C C	CACATGCA others(199): Show CACATGCACACATGAGCACATGCGCACACATGCACATACATACTGGCACA CGTACATGCACACATGAGCACATGTGCACACATGCACATACAGGCACACG TACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	181	0.0055	206	c.-30 others(217): Show c.-3039_-3038insACATGCACACATGAGCACATGCGCACACATGCAC ATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACAGGCACACGTACACGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2875		chr16	TogoVar
PABIR2_chrX_134764566_134802205	134788466	G G	GTGTAATA others(199): Show GTGTAATATATACACGTTATATATGTGTAATATATACACGTTATATATGT GTAATATATACACGTTATATATGTGTAATATATACACGTTATATATGTGT AATATATACACGTTATATATGTGTAATATATACACGTTATATATGTGTAA TATATACACGTTATATATGTTATATATGTTATATATGTGTTATATATACG TTATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0139	3	208	0.0144	206	c.435 others(221): Show c.435+263_435+264insTATATAACGTATATATAACACATATATAAC ATATATAACATATATAACGTGTATATATTACACATATATAACGTGTATAT ATTACACATATATAACGTGTATATATTACACATATATAACGTGTATATAT TACACATATATAACGTGTATATATTACACATATATAACGTGTATATATTA CACATATATAACGTGTATATATTACA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PACRG_chr6_162722974_163320500	163004737	T T	TATATACA others(199): Show TATATACAGAGCAATGAAAGCTCTGAAATTTTATATATATATAAAACATA GTTATACATGTTATATATATACAACATAGTTATACGTGTTATATATATAC AACATAGTTATACGTGTTATATATATACAACAGTTATACGTGTTATATAT ATACAACGTAGTTATACGTGTTATATATATAACATGTATATATATATATA TACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 NA18522.hp1 HG02109.hp2 HG02559.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0013 a0001c0003t0003 a0001c0001t0002 a0001c0001t0013 a0001c0003t0003	a0001c0001t0002g0002 a0001c0001t0013g0013 a0001c0003t0003g0067 a0001c0001t0002g0002 a0001c0001t0013g0013 a0001c0003t0003g0067	3	82	0.0366	206	c.292 others(225): Show c.292-57412_292-57411insTATACAGAGCAATGAAAGCTCTGAAA TTTTATATATATATAAAACATAGTTATACATGTTATATATATACAACATA GTTATACGTGTTATATATATACAACATAGTTATACGTGTTATATATATAC AACAGTTATACGTGTTATATATATACAACGTAGTTATACGTGTTATATAT ATAACATGTATATATATATATATACACACA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(199): Show CAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAA GAAAGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0181 a0004c0010t0001g0181	1	202	0.0050	206	c.20- others(221): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741324	C C	CGCGGGGG others(199): Show CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGG GGGGCTG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0288 a0001c0002t0074g0288	1	340	0.0029	206	c.143 others(221): Show c.143-335_143-334insGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTC GCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGG GGGGCTGGCGGGGGGCTGGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(199): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC CTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTTCCCCTCCCCTC CCCCCTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0283 a0001c0001t0077g0283	1	25	0.0400	206	c.218 others(225): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCT CCCCCCTTCCCCTCCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(199): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	191	0.0052	206	c.-66 others(225): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(199): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0103 a0003c0003t0002g0103	1	163	0.0061	206	c.200 others(225): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKP3_chr11_389209_409908	401948	G G	GCCCCGCT others(199): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGACCCGCTCACCC CCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGC CCCGCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	184	0.0054	206	c.173 others(225): Show c.1738-1130_1738-1129insCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGC CCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCC GCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCA CCCCGGGCCCCGCTCACACCCGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	402345	C C	CCCACTCA others(199): Show CCCACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCG CTCACACCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCA CCCCGGACCCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCC AGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCC CCGCTCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01256.hp2 HG01258.hp2 others(2): Show HG00609.hp1 HG01256.hp2 HG01258.hp2 HG02809.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0145 a0001c0002t0001g0170 a0001c0003t0001g0003 others(1): Show a0001c0002t0001g0145 a0001c0002t0001g0170 a0001c0003t0001g0003 a0001c0004t0001g0073	5	214	0.0234	206	c.173 others(223): Show c.1738-731_1738-730insACTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGGCCCCG CTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCGCTCA CCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCACCCGG GACCCCGCTCACACCCGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLXNB2_chr22_50269979_50312646	50285743	A A	ACCCCTCC others(199): Show ACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCC TCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCT GAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCC TGTCACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGG CCGGCAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0215 a0001c0006t0001g0215	1	220	0.0045	206	c.208 others(221): Show c.2088+56_2088+57insGTGCCGGCCGGTGACAGGCAGGCTCAGGTA CGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTACGGAGGGAG GGGTGCCGGCCGGTGACAGGCAGGCTCAGGTACGGAGGGAGGGGTGCCGG CCGGTGACAGGCAGGCTCAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACA GGCAGGCTCAGGTACGGAGGGAGGGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2122989	G G	GTAGTTAG others(199): Show GTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTT AGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	126	0.0079	206	c.335 others(225): Show c.335-12270_335-12269insTTAGGATCATGGCTGTAGTTAGCGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGGTG GTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123213	G G	GTAGTTAG others(199): Show GTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTT AGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp1 HG00558.hp2 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0096 a0001c0002t0001g0100	2	143	0.0140	206	c.335 others(225): Show c.335-12046_335-12045insTTAGGATCATGGCTGTAGTTAGCGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGGTG GTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133822	T T	TCTCTCTC others(199): Show TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCC ACCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	220	0.0045	206	c.23 others(217): Show c.2390_*2391insCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2110		chr19	TogoVar
PTGES_chr9_129733349_129758042	129733403	T T	TGCTGGGA others(199): Show TGCTGGGATTATAGGCTCGCGCCACCACACCTGGCTAATCGTTGTTTTTG TTGTTATTGTTGTTTGTGTTTTTGTTGTTGTTGTTGTTGTTGTTTTGAGA CGGAGTCTCGATCTGTCACCAGGCTGGGGTACAGTGGTGTGATCTTGGCT CATTGCAACCTCCGACTCCAAGGTTCAAGCGATTCCCCTGCCTCAGCCTC CCGAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02559.hp1 HG02922.hp2 HG01943.hp2 HG02559.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0036 a0001c0001t0004 a0001c0002t0036	a0001c0001t0004g0020 a0001c0002t0036g0250 a0001c0001t0004g0020 a0001c0002t0036g0250	3	240	0.0125	206	c.62 others(217): Show c.6207_*6208insTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAA CCTTGGAGTCGGAGGTTGCAATGAGCCAAGATCACACCACTGTACCCCAG CCTGGTGACAGATCGAGACTCCGTCTCAAAACAACAACAACAACAACAAC AAAAACACAAACAACAATAACAACAAAAACAACGATTAGCCAGGTGTGGT GGCGCGAGCCTATAATCCCAGC	PTGES	ENSG00000148344.11	transcript	ENST00000340607.5	protein_coding		4945		chr9	TogoVar
PTHLH_chr12_27953084_27977733	27961301	G G	GTATATAT others(199): Show GTATATATATATACGTATATATATATACGTATATATATACGTATATATAT ATACGTATATATATATACGTATATATATATACGTATATATATATACGTAT ATATATATACGTATATATATATACGTATATATATACGTATATATATATAC GTATATATATATACGTATATATATACGTATATATATATACGTATATATAT ATACGTA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	287	0.0035	206	c.524 others(223): Show c.524+2046_524+2047insTACGTATATATATATACGTATATATATA TACGTATATATATACGTATATATATATACGTATATATATATACGTATATA TATACGTATATATATATACGTATATATATATACGTATATATATATACGTA TATATATATACGTATATATATATACGTATATATATATACGTATATATATA CGTATATATATATACGTATATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTK6_chr20_63523001_63542376	63535752	A A	ACCTGGCC others(199): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCACCTGGCCT CCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCCG CCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCC CTCCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0203 a0001c0002t0003g0203	1	330	0.0030	206	c.231 others(221): Show c.231-694_231-693insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTG CGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGGGGGGGGGCGGGA GGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCC AGGTGAGGGGGGGGCGGGAGGCCAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(199): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTC CCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCC TCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCCT CCCCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	16	0.0625	206	c.191 others(227): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCTCTCCACT CCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCT CCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTC CCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCC TCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXDN_chr2_1626887_1749515	1720015	G G	GAGAGAGA others(199): Show GAGAGAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGG ATGTAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGATG CAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGA AGAATGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02717.hp1 others(2): Show HG02257.hp2 HG02486.hp1 HG02717.hp1 HG02922.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 a0001c0004t0004 a0001c0006t0008	a0001c0001t0001g0313 a0001c0001t0015g0316 a0001c0002t0003g0314 others(2): Show a0001c0001t0001g0313 a0001c0001t0015g0316 a0001c0002t0003g0314 a0001c0004t0004g0311 a0001c0006t0008g0315	5	246	0.0203	206	c.200 others(225): Show c.200+24240_200+24241insGCATTCTTCCCTCCCTCTCTCTCTGC ATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCCTCCCTCTC TCTCTGCATCCCTCCCTCTCTCTCTCTACATCCCTCCCCTCCCTCTCTCT CTGCATCCCTCCCTCTCTCTCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(199): Show TATGCGTATATATACGTATATACACATATATGTGTGTGTATATACGGATA TACACACACATATGTGTGTATATATCCGTATATATACACACATATGTGTG TATATATCCGTATATATACACATATGTGTGTATATACGTATATACACACA TATGTGTGTGTATATACGGATATACACATATATGTGTGTATATATACGTA TATACAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	220	0.0045	206	c.468 others(223): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTATATAT ACGGATATATACACACATATGTGTGTGTATATCCGTATATACACACACAT ATATGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(199): Show TATATATAATACATAATATATATTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATATATAAT ATATAATACATTATATTTTATATAATATAGATAATACATTATATATATTA TATAATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0009 a0001c0001t0016g0009	1	61	0.0164	206	c.24+ others(223): Show c.24+13898_24+13899insTTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATATATAAT ATATAATACATTATATTTTATATAATATAGATAATACATTATATATATTA TATAATAATATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(199): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	19	0.0526	206	c.24+ others(223): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar

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