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
LMNTD1_chr12_25471082_25558283	25499254	T T	TTTTTTTT others(184): Show TTTTTTTTTTTTTTTTTTTTTTTTATTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0166 a0001c0004t0001g0166	1	382	0.0026	191	c.22 others(208): Show c.22+4483_*22+4484insTAAAAATACAAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAATAAAAAAAAAA AAAAAAAAAAAAA	LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	9/9			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909085	A A	ATTATATA others(184): Show ATTATATATAATTATATATATTATATATTATATATAATATATAATATATA ATATATAATATATATTTATTAATAATATATATAATATATATATTTATTTA TATATATATTATTATATGTATATAAATATATATATTTATTAATATATATA AATATATATATTTATTAATAATATATATAATATATATAATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02895.hp2 HG01358.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0077 a0002c0002t0002g0026 a0002c0002t0002g0077	2	303	0.0066	191	c.622 others(206): Show c.622-805_622-804insTTATATATAATTATATATATTATATATTAT ATATAATATATAATATATAATATATAATATATATTTATTAATAATATATA TAATATATATATTTATTTATATATATATTATTATATGTATATAAATATAT ATATTTATTAATATATATAAATATATATATTTATTAATAATATATATAAT ATATATAATAT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(184): Show TATATAATATATAATATATATTTATTAATAATATATATAATATATATATT TATTTATATATATATTATTATATATATAAATATATATATTTATTAATATA TATATAAATATATATATTTATTAATAATATATATAATATATATATAATAT ATAATATATAATATATAATATATATTTATATATAATATATAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	270	0.0037	191	c.622 others(206): Show c.622-755_622-754insATATAATATATAATATATATTTATTAATAA TATATATAATATATATATTTATTTATATATATATTATTATATATATAAAT ATATATATTTATTAATATATATATAAATATATATATTTATTAATAATATA TATAATATATATATAATATATAATATATAATATATAATATATATTTATAT ATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(184): Show TATATAATATATAATATATATTTATTAATAATATATATAATATATATATT TATTTATATATATATTATTATATGTATATAAATATATATATTTATTAATA TATATAAATATATATATTTATTAATAATATATATAATATATATATAATAT ATAATATATAATATATAATATATATTTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA20752.hp1 HG02818.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0085 a0002c0002t0002g0010 a0002c0002t0002g0085	2	271	0.0074	191	c.622 others(206): Show c.622-755_622-754insATATAATATATAATATATATTTATTAATAA TATATATAATATATATATTTATTTATATATATATTATTATATGTATATAA ATATATATATTTATTAATATATATAAATATATATATTTATTAATAATATA TATAATATATATATAATATATAATATATAATATATAATATATATTTATAT ATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC27_chr10_132327193_132386508	132358563	C C	CAGCGTGG others(184): Show CAGCGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGG TGGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCTGAGGT GGTGGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGCAGCGTGGGAAGGA GCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	288	0.0035	191	c.117 others(210): Show c.1170+2679_1170+2680insCGTGGGGAGGAGCCGAGGTGGTGGAG CGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGG AGCGTGGGGAGGAGCTGAGGTGGTGGAGCAGTGTGGGGAGGAGCCAAGGT GGTGGAGCAGCGTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGA GCCGAGGTGGTGGAG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186559	G G	GGAGGAAC others(184): Show GGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGAGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCGACACGGGAGGA ACAGCGACACGGGGAACAGCGACACGGGGGGAACAGCGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	346	0.0029	191	c.26 others(202): Show c.2638_*2639insGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCGT GTCGCTGTTCCTCCCGTGTCGCTGTTCCTCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCT GTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2430		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1940974	C C	CCCTCCTC others(184): Show CCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGG CCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCC GCAGGCCTCACCCTCCTCTTCCTCCCCCAGGCCTCACCCTCCTCTTCCTC CCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0089 a0001c0003t0001g0089	1	162	0.0062	191	c.159 others(210): Show c.1597-4078_1597-4077insCTGAGGCCTGGGAGAGGAAGAGGAGG GTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGGGAGGAAGA GGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAG GAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGG GAGAGGAAGAGGAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113416210	T T	TTAATTAT others(184): Show TTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATTATTATGTAATTAATGACACATAT TATTATGTAATTAATGACACATATTATGTAATTAATGACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02559.hp2 HG01261.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0231 a0001c0001t0002g0234	2	234	0.0085	191	c.316 others(210): Show c.316+24863_316+24864insATTATGTAATTAATGACACATATTAA TTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATTAA TTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATTAT TATGTAATTAATGACACATATTATTATGTAATTAATGACACATATTATGT AATTAATGACACATA	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(184): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TAATATATATTAATATATATATTAATAATATATATTAATTATATATATTA ATATATATTAATTATATATATTAATTATATATATTTATATAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0212 a0001c0002t0002g0212	1	75	0.0133	191	c.316 others(210): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTAATATATATTAATATATATATTAATAA TATATATTAATTATATATATTAATATATATTAATTATATATATTAATTAT ATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(184): Show GATATATATGTGATACATATATATGAGATATATATGTGATGATACATATA TATGAGATATATATGTGATGATACATATATATGAGATATATATGTGATGA TACATATATATGAGATATATATGTGATACATATATATGAGATATATATGT GATACATATATATGAGATATATATGATACATATATATGAGAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	159	0.0063	191	c.127 others(210): Show c.1278+2548_1278+2549insTGATACATATATATGAGATATATATG TGATGATACATATATATGAGATATATATGTGATGATACATATATATGAGA TATATATGTGATGATACATATATATGAGATATATATGTGATACATATATA TGAGATATATATGTGATACATATATATGAGATATATATGATACATATATA TGAGATATATATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(184): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02135.hp1 HG03492.hp1 others(5): Show HG01943.hp1 HG02135.hp1 HG03492.hp1 NA18747.hp1 NA18947.hp1 NA18952.hp1 NA18994.hp1 NA20905.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0009c0009t0001 a0001c0001t0001 a0001c0001t0002 a0009c0009t0001	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0074 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0074 a0001c0001t0001g0093 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0002g0086 a0009c0009t0001g0145	8	94	0.0851	191	c.525 others(208): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCT CCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477990	A A	AGGGGGGA others(184): Show AGGGGGGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG AGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	101	0.0099	191	c.525 others(208): Show c.525+8491_525+8492insCCCCCTCCCCCCTCTCCCCCTCCCCCCT CTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTC CCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCT CCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MGAM_chr7_141990879_142111747	142045541	A A	ATATATAC others(184): Show ATATATACATACAACATATGAATATATAATATATATATTATATATACATA CAACATATGAATATATAATATATATATTATATATACATACAACATATGAA TATATAATATATATATTATATATACATACAACATATGAATATATAATATA TATATTATATATACATATAATATATGAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0062 a0004c0012t0001g0062	1	314	0.0032	191	c.249 others(210): Show c.2499-2231_2499-2230insCATATGAATATATAATATATATATTA TATATACATACAACATATGAATATATAATATATATATTATATATACATAC AACATATGAATATATAATATATATATTATATATACATACAACATATGAAT ATATAATATATATATTATATATACATATAATATATGAATATATAATATAT ATTATATACATACAA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(184): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0161 a0002c0003t0002g0161	1	85	0.0118	191	c.107 others(210): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTCTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(184): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 NA19240.hp2 HG02717.hp1 HG02886.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0176 a0001c0001t0003g0012 a0001c0002t0001g0157 a0001c0001t0001g0176 a0001c0001t0003g0012 a0001c0002t0001g0157	3	87	0.0345	191	c.107 others(210): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MOV10L1_chr22_50085006_50166687	50098000	A A	ATTTTTTT others(184): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0117 a0004c0008t0001g0117	1	398	0.0025	191	c.283 others(208): Show c.283-1435_283-1434insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGC TAATTTTTTTTTT	MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPI_chr15_74885042_74907219	74894049	T T	TGTGTGTG others(184): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTG GTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCT CCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0064 a0001c0003t0017g0064	1	418	0.0024	191	c.670 others(206): Show c.670+781_670+782insTTTCTGAGCCAGGGTCTCTTTCTGTTGCCC CAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCC CGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTT TTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGT	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPPED1_chr22_43407014_43512848	43432737	A A	AGAGAGAT others(184): Show AGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAA GGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	248	0.0040	191	c.225 others(208): Show c.225-2291_225-2290insTAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH2A_chr2_233773330_233838418	233787914	A A	ATATATAC others(184): Show ATATATACATATATATTATATATACATATATATTATATATACATATATAT TATATATACATATATATTATATATACATATATATTATATATATACATATA TATTATATATATACATATATATTATATATACATATATATTATATATATAC ATATATATTATATATACATATATATTATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0023 a0023	a0023c0047 a0023c0047	a0023c0047t0002 a0023c0047t0002	a0023c0047t0002g0026 a0023c0047t0002g0026	1	339	0.0029	191	c.277 others(208): Show c.277-1577_277-1576insCATATATATTATATATACATATATATTA TATATACATATATATTATATATACATATATATTATATATACATATATATT ATATATATACATATATATTATATATATACATATATATTATATATACATAT ATATTATATATATACATATATATTATATATACATATATATTATATATACA TATATATTATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787914	A A	ATATATAC others(184): Show ATATATACATATATATTATATATACATATATATTATATATACATATATAT TATATATACATATATATTATATATATACATATATATTATATATATACATA TATATTATATATACATATATATTATATATATACATATATATTATATATAC ATATATATTATATATACATATATATTATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0095 a0095	a0095c0129 a0095c0129	a0095c0129t0002 a0095c0129t0002	a0095c0129t0002g0019 a0095c0129t0002g0019	1	339	0.0029	191	c.277 others(208): Show c.277-1577_277-1576insCATATATATTATATATACATATATATTA TATATACATATATATTATATATACATATATATTATATATATACATATATA TTATATATATACATATATATTATATATACATATATATTATATATATACAT ATATATTATATATACATATATATTATATATACATATATATTATATATACA TATATATTATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(184): Show TAATATATATTATATATATAATATATAATATATAATATATATTATATATA TAATATATAATATATATAATATATATTATATATATAATATATAATATATA ATATATATTATTATATATAATATATATTATAATATATATTATATATAATA TATATTATATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0032 a0009c0032	a0009c0032t0001 a0009c0032t0001	a0009c0032t0001g0038 a0009c0032t0001g0038	1	50	0.0200	191	c.547 others(208): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATAATATATATTATAT ATAATAATATATATTATATATTATATATTATATATATAATATATATTATA TATATTATATATTATATATATAATATATATTATATATTATATATTATATA TATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(184): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATAATATATATTATATATATAATATATAATATA TATTATATATATAATATATATTATATATATAATATATATTATATATAATA TATATTATATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02922.hp1 others(1): Show HG01256.hp2 HG01258.hp1 HG02922.hp1 HG03225.hp2	a0001 a0011 a0001 a0011	a0001c0003 a0001c0021 a0011c0017 a0001c0003 a0001c0021 a0011c0017	a0001c0003t0001 a0001c0021t0001 a0011c0017t0001 a0001c0003t0001 a0001c0021t0001 a0011c0017t0001	a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0021t0001g0301 others(1): Show a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0021t0001g0301 a0011c0017t0001g0126	4	53	0.0755	191	c.547 others(208): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATATAATATATATTATATATTATATATATAATATATATTATATA TATTATATATTATATATATAATATATATTATATATATTATATATTATATA TATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(184): Show TAATATATATTATATATTATAATATATAATATATATAATATATAATATAT AATATATATAATATATATAATATATATTATATATATAATATATAATATAT ATTATAATATATAATATATATTATATATATAATATATATTATATATAATA TATATTATATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02886.hp2 HG03130.hp2 HG01109.hp1 HG02886.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0035 a0001c0003 a0001c0035	a0001c0003t0001 a0001c0035t0001 a0001c0003t0001 a0001c0035t0001	a0001c0003t0001g0029 a0001c0003t0001g0032 a0001c0035t0001g0030 a0001c0003t0001g0029 a0001c0003t0001g0032 a0001c0035t0001g0030	3	52	0.0577	191	c.547 others(208): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATTATAATATATATTATATATTATATATATAATATATATTATAT ATATTATATATATTATATATTATATATTATATATATTATATATTATAATA TATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYT1_chr20_64159452_64247253	64174151	G G	GTAGTTGT others(184): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCAACTTTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	214	0.0047	191	c.-99 others(208): Show c.-99+9426_-99+9427insTCCCCTCCCTGGCTTCTCCTGTAGCATC TTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTT CCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCC TGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCAACTTTCCT AGTTGTGTCCATT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175992	G G	GTAGTTGT others(184): Show GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	222	0.0045	191	c.-99 others(210): Show c.-99+11267_-99+11268insCCCCCTCCCTGGCTTCTCCTGTAGCA TCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64176074	C C	CCTGCAGC others(184): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTGCA GCATCTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0115 a0001c0003t0022g0115	1	101	0.0099	191	c.-99 others(210): Show c.-99+11337_-99+11338insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(184): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCC TTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG01074.hp2 others(6): Show HG00099.hp1 HG00597.hp2 HG01074.hp2 HG01106.hp2 HG04184.hp2 NA18959.hp1 NA18964.hp2 NA18999.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0003t0010 others(1): Show a0001c0001t0001 a0001c0003t0007 a0001c0003t0010 a0001c0003t0019	a0001c0001t0001g0084 a0001c0003t0007g0074 a0001c0003t0007g0149 others(6): Show a0001c0001t0001g0084 a0001c0003t0007g0074 a0001c0003t0007g0149 a0001c0003t0007g0166 a0001c0003t0007g0184 a0001c0003t0007g0197 a0001c0003t0007g0205 a0001c0003t0010g0126 a0001c0003t0019g0178	9	40	0.2250	191	c.289 others(208): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTTCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCC CCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NALCN_chr13_101048776_101421508	101391820	T T	TAAAAAAT others(184): Show TAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0007 a0001c0018t0003g0007	1	159	0.0063	191	c.291 others(208): Show c.291+3362_291+3363insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	3/43			chr13	TogoVar
NCAM2_chr21_20993409_21548329	21433796	A A	AAAATAAA others(184): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0018 a0003c0006t0018	a0003c0006t0018g0016 a0003c0006t0018g0016	1	132	0.0076	191	c.165 others(210): Show c.1654+1518_1654+1519insTAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT ATAAAATAAAATAAA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(184): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	86	0.0116	191	c.-41 others(202): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NEU4_chr2_241804193_241822413	241807573	C C	CCCCCCTC others(184): Show CCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	316	0.0032	191	c.-17 others(202): Show c.-1705_-1704insCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCT CCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1619		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807652	C C	CCTCCCCC others(184): Show CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	314	0.0032	191	c.-16 others(202): Show c.-1626_-1625insCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1540		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995550	C C	CATATACA others(184): Show CATATACAGTATGTATACTGTATATATATACAGTATGTATACTGTATATA TATACAGTATGTATACTGTATATATATACAGTATGTATACTGTATATATA TACAGTATGTATACTGTATATATATACAGTATGTATACTGTATATATATA CAGTATGTATACTGTATATATATACAGTATGTATACTGTATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0047 a0001c0005t0001g0047	1	264	0.0038	191	c.-75 others(210): Show c.-75+17517_-75+17518insTATACAGTATACATACTGTATATATA TACAGTATACATACTGTATATATATACAGTATACATACTGTATATATATA CAGTATACATACTGTATATATATACAGTATACATACTGTATATATATACA GTATACATACTGTATATATATACAGTATACATACTGTATATATATACAGT ATACATACTGTATAT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(184): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG ACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC AGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0164 a0002c0005t0001g0164	1	250	0.0040	191	c.319 others(206): Show c.319+282_319+283insCTTTCTGTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGT CTTTCTTTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGT CTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931716	A A	AGAAAGAC others(184): Show AGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0107 a0002c0007t0001g0107	1	393	0.0025	191	c.319 others(206): Show c.319+276_319+277insGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCT TTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCT TTCTGTCTTTC	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(184): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	2	0.5000	191	c.195 others(208): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATA TTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NXN_chr17_794310_984776	841629	A A	AGCAGGTC others(184): Show AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCC CGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGG GCGAGCAGGTCCTCCCGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	240	0.0042	191	c.361 others(210): Show c.361-15552_361-15551insCCGTGGGTGTGAGATGCGCCGTGGTC GGGAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC CTGTGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTG AGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTG GTCGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGC others(184): Show GGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	154	0.0065	191	c.360 others(210): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACCCCAGCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(184): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATAGGATATATATAATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATACTATATAGTACTATATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG02886.hp2 HG02896.hp2 others(2): Show HG01069.hp2 HG02886.hp2 HG02896.hp2 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 a0001c0001t0001 a0001c0001t0002 a0001c0009t0002	a0001c0001t0001g0031 a0001c0001t0001g0071 a0001c0001t0002g0070 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0071 a0001c0001t0002g0070 a0001c0009t0002g0068	5	258	0.0194	191	c.-16 others(202): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATAGGATATATATAATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATACTATATAGTACT ATATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(184): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATAATATATATTAT ATAATATAATATATTTTATTATATAAATATATATTATATTATATAATATA ATATATATTATATAATATATTTTATTATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	40	0.0250	191	c.-55 others(206): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATAATATATTTTATTATATAAATATATATTATATTATATAATATAATAT ATATTATATAATATATTTTATTATATAAATATATATTATATTATATAATA TAATATATATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR52E6_chr11_5835928_5846897	5844216	T T	TTTATATA others(184): Show TTTATATATATTTTATATATAATATATATTATATATATTATATATAAATA TATATTATATATATTATATTATATATAATATATATTATATATAATATATA TTATATTATATATAATATATATTATATATATAATATATATAATATATATT ATATATAATATATATAATATATATTATATATATTATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	187	0.0053	191	c.-23 others(202): Show c.-2320_-2319insTTATATATAATATATATAATATATATTATATATA TTATATATAATATATATTATATATATTATATATATAATATATATTATATA TAATATAATATATATTATATATAATATATATTATATATAATATAATATAT ATAATATATATTTATATATAATATATATAATATATATTATATATAAAATA TATATAA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2320		chr11	TogoVar
OR8B8_chr11_124432445_124450696	124443032	A A	ATTTAGAC others(184): Show ATTTAGACAGGTTTCACCCTATTGATCTGGATGTTTAGGCAGGTTTCACC CTATTGATCTGGATGTTTAGACAGGTTTCACCCTATTGATCTGGATGTTT AGGCAGGTTTCACCCTATTGATCTGGATGTTTAGGCAGGTTTCACCCTAT TGATCTGGATGTTTAGGCAGGTTTCACCTATTGATCTGGATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp2 others(217): Show HG00099.hp2 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0008 a0007c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(26): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0035 a0001c0001t0054 a0001c0001t0055 a0001c0002t0001 a0001c0002t0027 a0001c0002t0034 a0001c0002t0049 a0001c0002t0050 a0001c0002t0052 a0001c0002t0053 a0001c0003t0006 a0001c0003t0018 a0001c0003t0031 a0001c0003t0040 a0001c0003t0041 a0003c0008t0013 a0007c0010t0051	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0020 others(41): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0004g0066 a0001c0001t0008g0036 a0001c0001t0008g0050 a0001c0001t0008g0068 a0001c0001t0009g0011 a0001c0001t0011g0067 a0001c0001t0013g0025 a0001c0001t0013g0052 a0001c0001t0014g0040 a0001c0001t0019g0021 a0001c0001t0020g0035 a0001c0001t0020g0051 a0001c0001t0021g0026 a0001c0001t0021g0069 a0001c0001t0028g0041 a0001c0001t0028g0074 a0001c0001t0029g0049 a0001c0001t0035g0039 a0001c0001t0054g0075 a0001c0001t0055g0092 a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0002t0001g0057 a0001c0002t0001g0064 a0001c0002t0001g0073 a0001c0002t0027g0027 a0001c0002t0034g0038 a0001c0002t0049g0060 a0001c0002t0050g0061 a0001c0002t0052g0062 a0001c0002t0053g0063 a0001c0003t0006g0008 a0001c0003t0006g0072 a0001c0003t0018g0019 a0001c0003t0031g0034 a0001c0003t0040g0054 a0001c0003t0041g0055 a0003c0008t0013g0056 a0007c0010t0051g0053	220	405	0.5432	191	c.-15 others(210): Show c.-152-1410_-152-1409insCATCCAGATCAATAGGTGAAACCTGC CTAAACATCCAGATCAATAGGGTGAAACCTGCCTAAACATCCAGATCAAT AGGGTGAAACCTGCCTAAACATCCAGATCAATAGGGTGAAACCTGTCTAA ACATCCAGATCAATAGGGTGAAACCTGCCTAAACATCCAGATCAATAGGG TGAAACCTGTCTAAA	OR8B8	ENSG00000197125.3	transcript	ENST00000642064.1	protein_coding	1/2			chr11	TogoVar
OR8B8_chr11_124432445_124450696	124443032	A A	ATTTAGAC others(184): Show ATTTAGACAGGTTTCACCCTATTGATCTGGATGTTTAGGCAGGTTTCACC CTATTGATCTGGATGTTTAGACTGGTTTCACCCTATTGATCTGGATGTTT AGGCAGGTTTCACCCTATTGATCTGGATGTTTAGGCAGGTTTCACCCTAT TGATCTGGATGTTTAGGCAGGTTTCACCTATTGATCTGGATG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	186	0.0054	191	c.-15 others(210): Show c.-152-1410_-152-1409insCATCCAGATCAATAGGTGAAACCTGC CTAAACATCCAGATCAATAGGGTGAAACCTGCCTAAACATCCAGATCAAT AGGGTGAAACCTGCCTAAACATCCAGATCAATAGGGTGAAACCAGTCTAA ACATCCAGATCAATAGGGTGAAACCTGCCTAAACATCCAGATCAATAGGG TGAAACCTGTCTAAA	OR8B8	ENSG00000197125.3	transcript	ENST00000642064.1	protein_coding	1/2			chr11	TogoVar
OTOF_chr2_26452203_26483124	26476661	C C	CCCCCACG others(184): Show CCCCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCAC CCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG03654.hp1 others(2): Show HG00280.hp2 HG00738.hp2 HG03654.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0001g0068	5	328	0.0152	191	c.435 others(206): Show c.435+229_435+230insAAGGAGGTGGGGGAAGGGGTGGGGGAAGGG GTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGT GGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGA AGGACGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476661	C C	CCCCCACG others(184): Show CCCCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCAC CCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03654.hp1 NA20752.hp2 HG00738.hp2 HG03654.hp1 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0161 a0002c0004t0001g0227 a0002c0004t0001g0230 a0002c0004t0001g0161 a0002c0004t0001g0227 a0002c0004t0001g0230	3	281	0.0107	191	c.267 others(208): Show c.2676+229_2676+230insAAGGAGGTGGGGGAAGGGGTGGGGGAAG GGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGG GTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTG GGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GAAGGACGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
P2RX5_chr17_3668227_3701155	3685849	C C	CCAGCCTG others(184): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGG CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCCGCCCAGCCTCAGAA CAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0207	1	331	0.0030	191	c.981 others(208): Show c.981+2162_981+2163insACGTTGGGAGGGTCCCTGGGGGCCCCGC TGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGGCGGGGGACGTTGGG AGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGG GGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCC TGTTCTCAGGCTG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685849	C C	CCAGCCTG others(184): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGG CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCCGCCCAGCCTCAGAA CAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	331	0.0030	191	c.981 others(208): Show c.981+2162_981+2163insACGTTGGGAGGGTCCCTGGGGGCCCCGC TGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGGCGGGGGACGTTGGG AGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGCGG GGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCC TGTTCTCAGGCTG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686476	G G	GGGGCCCC others(184): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGA GAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	304	0.0033	191	c.981 others(208): Show c.981+1535_981+1536insAGCTGTGTGTTCTCCTGTTCTCAGGCTG GGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTG TTCTGAGGCTGGGCGGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGC CCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGG TCCCTGGGGGCCC	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PAK1_chr11_77317017_77479094	77332345	G G	GGGAAAGG others(184): Show GGGAAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGA GGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	278	0.0036	191	c.155 others(208): Show c.1551+384_1551+385insTTCCCTTCCTTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTT CCCTTCCCTTTCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PCDH15_chr10_53797771_54806231	54332312	A A	AATATAAT others(184): Show AATATAATATAATCTATATTATATATTATTATATATAATATAATATAATC TATATTATATTATATATAATATAATATAATCTATATTATATATTATTATA TATAATATAATCTATATTATATATTATTATATATAATATAATCTATATTA TATATTATTATATATAATATAATCTATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0065 a0008c0007t0003g0065	1	81	0.0123	191	c.595 others(208): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATATAATATAGATTATATTATATTATATATAATAATATATAATATA GATTATATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar

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