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
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(294): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	96	0.0104	301	c.-43 others(312): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACD2_chr3_123486554_123590053	123490418	G G	GAAAAAGC others(294): Show GAAAAAGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAA AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 NA18972.hp1 NA19003.hp1 HG03490.hp2 NA18972.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0001 a0001c0002t0009	a0001c0002t0001g0044 a0001c0002t0001g0090 a0001c0002t0009g0100 a0001c0002t0001g0044 a0001c0002t0001g0090 a0001c0002t0009g0100	3	255	0.0118	301	c.44 others(312): Show c.4469_*4470insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCAC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTGGCTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding		1135		chr3	TogoVar
HS3ST2_chr16_22809162_22921338	22818674	T T	TCCTTCCC others(294): Show TCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCATTCCTTCCCTCCTTCCTTCCTTCCCTCC TTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCATTCC TTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTT CCTTCCTCCCTCCCTTCCTTCATTCCTTCCCTCCTTCCTTCCTTCCTTCC TC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0287 a0001c0001t0007g0287	1	346	0.0029	301	c.485 others(318): Show c.485+3582_485+3583insTCCCTCCTTCCTTCCTCCCTCCCTCCCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCCT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCATT CCTTCCTTCCTTCATTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCATTCCTTCCCT CCTTCCTTCCTTCCTTCCTCCCT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13533514	T T	TGAAGTTA others(294): Show TGAAGTTATTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC TTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01192.hp2 HG01346.hp2 others(4): Show HG00544.hp1 HG01192.hp2 HG01346.hp2 NA18951.hp1 NA18956.hp1 NA18989.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0002t0016 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0016 a0002c0004t0012	a0001c0001t0002g0207 a0001c0001t0003g0149 a0001c0001t0003g0178 others(4): Show a0001c0001t0002g0207 a0001c0001t0003g0149 a0001c0001t0003g0178 a0001c0002t0016g0305 a0002c0004t0012g0277 a0002c0004t0012g0285 a0002c0004t0012g0290	7	262	0.0267	301	c.600 others(320): Show c.600-36697_600-36696insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCACCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAATTAATAACTTC	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HSDL2_chr9_112375108_112477405	112388798	G G	GCAGACTG others(294): Show GCAGACTGTATTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTT TCACTGTGATAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp1 HG03139.hp1 others(3): Show HG02615.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189	6	340	0.0176	301	c.17+ others(316): Show c.17+8633_17+8634insTTTTTCTTTTTCTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGG GGTTTCACTGTGATAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCAGACTGTATTTTTC	HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
HSDL2_chr9_112375108_112477405	112388798	G G	GCAGACTG others(294): Show GCAGACTGTATTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTT TCACTGTGATAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCG GC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03195.hp1 HG02622.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0120 a0001c0001t0001g0084 a0001c0001t0001g0120	2	336	0.0060	301	c.17+ others(316): Show c.17+8633_17+8634insTTTTTCTTTTTCTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGG GGTTTCACTGTGATAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCG CCCGGCCAGACTGTATTTTTC	HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322340	T T	TATGCAGT others(294): Show TATGCAGTATATATATATGAATATATATATGGAATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATATGTGGA ATATATATATGGAATATATATATATGTGGAATATATATATGGAATATATA TATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATA TATGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACAT GGAATATGTGTATATGGAATATATACATGGAATATATATATGGAATATAT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	303	0.0033	301	c.-27 others(312): Show c.-2716_-2715insATGCAGTATATATATATGAATATATATATGGAAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATATGTGGAATATATATATGGAATATATATATATGTGGAATATA TATATGGAATATATATATGGAATATATACATGGAATATATGTATATGGAA TATATACATGGAATATATGTATATGGAATATATACATGGAATATGTGTAT ATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATAT ATATATGGAATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2629		chr21	TogoVar
INS_chr11_2154779_2166209	2161586	G G	GTCCCCAG others(294): Show GTCCCCAGGACCCCTGTCCCCAGGACCCCTGTGCCCACACCCCTGTCCTC AGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC AGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCC TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	373	0.0027	301	c.-43 others(310): Show c.-437_-436insTAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CTGGGGACAGGGGTCTGAGGACAGGGGTGTGGGCACAGGGGTCCTGGGGA CAGGGGTCCTGGGGA	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		378		chr11	TogoVar
IQSEC3_chr12_61767_183455	103629	G G	GGGGGAGG others(294): Show GGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGG GCTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCAGGAGGGAG AGGTGGAGTTCGGTGGGGAGGCAGGGCTGGGGGGAGGTGGGGGCTCAGGA GGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCGGGG CTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGAGGGAG AGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCG GT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00733.hp1 HG00733.hp2	a0007 a0016 a0007 a0016	a0007c0021 a0016c0057 a0007c0021 a0016c0057	a0007c0021t0004 a0016c0057t0015 a0007c0021t0004 a0016c0057t0015	a0007c0021t0004g0259 a0016c0057t0015g0274 a0007c0021t0004g0259 a0016c0057t0015g0274	2	254	0.0079	301	c.623 others(318): Show c.623+4497_623+4498insCGGGGCTCAGGAGGGAGAGGTGGAGTTC GGTGGGGAGGCAGGGCTGGGGGGAGGTGGGGGCTCAGGAGGGGAGGCGGG GCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGAGGGA GAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGAGGGAGAGGTGGAGTTC AGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGT AGGTGGGGGCTCAGGAGGGGAGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(294): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA19066.hp1 NA18747.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0014 a0001c0002t0008g0046 a0001c0002t0002g0014 a0001c0002t0008g0046	2	323	0.0062	301	c.-86 others(310): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
KCNG2_chr18_79792938_79905100	79865394	G G	GGTGCTGA others(294): Show GGTGCTGAGAGGTCTGGGTATGAGGTCTGGGTGCTGAAAGTTCTGTGTTC TGAGAGGTCTGGGTGCTGAGGTCTGTGTTCTGAGAAGTTTGCATGCTGAG AGATCTGTGTGCTGAGGTCTGGGTGCTGAGAGGTCTGGGTGCTGAGGCCT GGGTGCTGAGAGGTCTGTGTTCTGAGGTCTGGGTGCTGAGGTCTGGGTGC TGAGAGGTCTGTGTGCTGAGAAGTCTGGGTGCTGAGAGGTCTGGGTATGA GGTCTGGGTGCTGAGAGGTCTGGGTATGAGGTCTGGGTGCTGAGAGGTCT GA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02818.hp1 HG02055.hp2 HG02109.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0081 a0001c0007t0001g0083 a0001c0007t0001g0295 a0001c0007t0001g0081 a0001c0007t0001g0083 a0001c0007t0001g0295	3	310	0.0097	301	c.624 others(318): Show c.624+1121_624+1122insATGAGGTCTGGGTGCTGAAAGTTCTGTG TTCTGAGAGGTCTGGGTGCTGAGGTCTGTGTTCTGAGAAGTTTGCATGCT GAGAGATCTGTGTGCTGAGGTCTGGGTGCTGAGAGGTCTGGGTGCTGAGG CCTGGGTGCTGAGAGGTCTGTGTTCTGAGGTCTGGGTGCTGAGGTCTGGG TGCTGAGAGGTCTGTGTGCTGAGAAGTCTGGGTGCTGAGAGGTCTGGGTA TGAGGTCTGGGTGCTGAGAGGTCTGGGTATGAGGTCTGGGTGCTGAGAGG TCTGAGTGCTGAGAGGTCTGGGT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNIP4_chr4_20723606_21953772	21532949	T T	TAAAAGCT others(294): Show TAAAAGCTAATTAATTAAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0029 a0001c0003t0003g0029	1	68	0.0147	301	c.61+ others(320): Show c.61+415621_61+415622insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTTAATTAATTAGCTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNK10_chr14_88175108_88328269	88276265	C C	CCCAGAGA others(294): Show CCCAGAGAGATCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCAGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG04184.hp1 others(2): Show HG02486.hp2 HG02622.hp2 HG04184.hp1 HG04199.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0034 a0001c0002t0012 a0001c0002t0019 others(2): Show a0001c0001t0034 a0001c0002t0012 a0001c0002t0019 a0001c0002t0024 a0001c0003t0002	a0001c0001t0034g0237 a0001c0002t0012g0243 a0001c0002t0019g0017 others(2): Show a0001c0001t0034g0237 a0001c0002t0012g0243 a0001c0002t0019g0017 a0001c0002t0024g0240 a0001c0003t0002g0193	5	304	0.0164	301	c.53- others(318): Show c.53-12715_53-12714insCCAGCACTTTGGGAGGCCGAGGCGGGTG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCCAACAAGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCC GGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAGATCTCTCTGG	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88276265	C C	CCCAGAGA others(294): Show CCCAGAGAGATCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCAGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCGTTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0209 a0001c0001t0021g0209	1	300	0.0033	301	c.53- others(318): Show c.53-12715_53-12714insCCAGCACTTTGGGAGGCCGAGGCGGGTG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCCAACAAGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCC GGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAGATCTCTCTGG	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNMB2_chr3_178531436_178849429	178758739	G G	GATATATA others(294): Show GATATATATATATATATATATCTCCAAAAGGAGATATATATATATATATA TCTCCAAAAGGAGATATATATATATATATATCTCCAAGAGGAGATATATA TATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGA GATATATATATATATCTCCAAGAGGAGATATATATATATATATATATCTC CAAGAGGAGATATATATATATATATATCTCCAAGAGGGATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	122	0.0082	301	c.-67 others(320): Show c.-67-48586_-67-48585insATCTCCAAAAGGAGATATATATATAT ATATATCTCCAAAAGGAGATATATATATATATATATCTCCAAGAGGAGAT ATATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGA GGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAA GAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATATAT ATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATATATA TATATATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCTD9_chr8_25422847_25463433	25438943	T T	TAATTCAA others(294): Show TAATTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	348	0.0029	301	c.499 others(316): Show c.499+335_499+336insCCCAGCACTTTGGGAGGCCGAGGCGGGTGG ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCG GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAATTGAATT	KCTD9	ENSG00000104756.17	transcript	ENST00000221200.9	protein_coding	6/11			chr8	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(294): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCT GCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTG AGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGGG CCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACCCC TGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGCC AC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0017 a0001c0051t0017	a0001c0051t0017g0098 a0001c0051t0017g0098	1	241	0.0041	301	c.430 others(316): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCC CTTTACTCAGGGGTCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786775	A A	AGGAACCC others(294): Show AGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAG AGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCA CCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGG GGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCA GGACCCCTGAGTGAGAGGGTGGGGGCCAGTATCAGGACCCCTGAGTGAGG GGGTGGGGGCTGCCTGCTGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTG CT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG02976.hp2 others(1): Show HG02486.hp2 HG02723.hp1 HG02976.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0122 a0001c0001t0014g0123 a0001c0001t0014g0124 others(1): Show a0001c0001t0014g0122 a0001c0001t0014g0123 a0001c0001t0014g0124 a0001c0001t0014g0125	4	244	0.0164	301	c.430 others(316): Show c.430-263_430-262insAGCAGGCAGCCCCCACCCCCTCACTCAGGG GTCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATACTGGCCC CCACCCTCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGG GGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGCTGGCT CCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGG TCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCC TACCCTCTCACTCAGGGTTCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGTCG others(294): Show GGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGA TGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	304	0.0033	301	c.-22 others(312): Show c.-2261_-2260insGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGG GGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(294): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTG TCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCG CC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02074.hp1 HG02809.hp1 others(9): Show HG00639.hp1 HG02074.hp1 HG02809.hp1 HG02976.hp1 HG03225.hp1 HG03579.hp2 HG04115.hp2 NA18522.hp1 NA18952.hp1 NA18971.hp2 NA18999.hp1 NA19240.hp2	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0022	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0002c0028 a0018c0062 a0022c0034	a0001c0001t0008 a0001c0001t0025 a0001c0001t0071 others(9): Show a0001c0001t0008 a0001c0001t0025 a0001c0001t0071 a0001c0002t0050 a0001c0002t0085 a0001c0004t0007 a0001c0004t0040 a0001c0005t0073 a0001c0007t0016 a0002c0028t0003 a0018c0062t0086 a0022c0034t0007	a0001c0001t0008g0119 a0001c0001t0025g0073 a0001c0001t0071g0047 others(9): Show a0001c0001t0008g0119 a0001c0001t0025g0073 a0001c0001t0071g0047 a0001c0002t0050g0102 a0001c0002t0085g0001 a0001c0004t0007g0019 a0001c0004t0040g0113 a0001c0005t0073g0039 a0001c0007t0016g0055 a0002c0028t0003g0011 a0018c0062t0086g0144 a0022c0034t0007g0159	12	87	0.1379	301	c.135 others(320): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCA CTGCAAGCTCCGCCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(294): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTG TCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCG CC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0104	1	76	0.0132	301	c.135 others(320): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCA CTGCAAGCTCCGCCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(294): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0320	1	354	0.0028	301	c.997 others(318): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
LHFPL3_chr7_104323603_104913561	104833044	T T	TATAATAG others(294): Show TATAATAGATATATTATATATATATAATATATAATAGATATATTATAGAT ATATTATATATAATAGATATATTATATATATTATATATAATAGATATATT ATATATATATTATATATAATAGATATATTATATATATTATATATAATAGA TATATTATATATATTATATATAATAGATATATTATATATATTATATATAA TAGATATATTATATATATATTATATATAATAGATATATTATATATATATT ATATATAATAGATATATTATATATATATTATATATAATAGATATATATTA TA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03239.hp1 HG03017.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0078 a0001c0001t0003g0003 a0001c0001t0003g0078	2	70	0.0286	301	c.683 others(320): Show c.683-73143_683-73142insATAATAGATATATTATATATATATAA TATATAATAGATATATTATAGATATATTATATATAATAGATATATTATAT ATATTATATATAATAGATATATTATATATATATTATATATAATAGATATA TTATATATATTATATATAATAGATATATTATATATATTATATATAATAGA TATATTATATATATTATATATAATAGATATATTATATATATATTATATAT AATAGATATATTATATATATATTATATATAATAGATATATTATATATATA TTATATATAATAGATATATATTATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930240	T T	TCCCCACT others(294): Show TCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGC CCCGTCCCCACTGCCACATCCCCTCGCCCCGTCCCCCACTGCCACGTCCC CTACTGCCACGTCCCCACTGCCCCGTCCCCTCGCCCCGTCCCCACTGCCA CAACCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACT GCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCC CACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACATCCCCTCGCCCCG TC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03831.hp1 HG01975.hp2 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0098 a0001c0004t0003g0116 a0001c0004t0001g0098 a0001c0004t0003g0116	2	260	0.0077	301	c.180 others(320): Show c.1807+6446_1807+6447insGACGGGGCGAGGGGATGTGGCAGTGG GGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCA GTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGT GGCAGTGGGGACGGGGCGAGGGGTTGTGGCAGTGGGGACGGGGCGAGGGG ACGGGGCAGTGGGGACGTGGCAGTAGGGGACGTGGCAGTGGGGGACGGGG CGAGGGGATGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGAC GGGGCGAGGGGACGTGGCAGTGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1996271	C C	CCCCCCGG others(294): Show CCCCCCGGGTCTATACACAGCTCCTGGGCGGGCAGGGTCCCCCGGGTTTA CACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACAGCTCCT GGGCATGCAGGGTCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGT CCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCT ACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCC TGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCATGCAGG GT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp2 others(96): Show HG00099.hp1 HG00140.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01981.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18944.hp2 NA18948.hp1 NA18952.hp2 NA18963.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18984.hp2 NA18995.hp2 NA18999.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19081.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0015 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0001c0003t0007 a0001c0006t0001 a0001c0007t0004 a0001c0010t0001 a0001c0011t0001 a0001c0015t0001 a0002c0005t0001	a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0105 others(96): Show a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0002g0088 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0225 a0001c0001t0007g0143 a0001c0001t0008g0001 a0001c0001t0009g0247 a0001c0003t0001g0005 a0001c0003t0001g0029 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0059 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0075 a0001c0003t0001g0095 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0007g0145 a0001c0006t0001g0158 a0001c0007t0004g0078 a0001c0010t0001g0084 a0001c0011t0001g0244 a0001c0015t0001g0238 a0002c0005t0001g0090	99	258	0.3837	301	c.141 others(320): Show c.1416+5793_1416+5794insACCCTGCATGCCCAGGAGCCGTGTGT AGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGG ACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCC CAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGT GTAGACCCGGGGGACCCTGCATGCCCAGGAGCTGTGTGTAGACCCGGGGG GACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCC CAGGAGCTGTGTATAGACCCGGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1996271	C C	CCCCCCGG others(294): Show CCCCCCGGGTCTATACACAGCTCCTGGGCGGGCAGGGTCCCCCGGGTTTA CACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCT GGGCATGCAGGGTCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGT CCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCT ACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCC TGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCATGCAGG GT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	160	0.0063	301	c.141 others(320): Show c.1416+5793_1416+5794insACCCTGCATGCCCAGGAGCCGTGTGT AGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGG ACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCC CAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGT GTAGACCCGGGGGACCCTGCATGCCCAGGAGCCGTGTGTAGACCCGGGGG GACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCC CAGGAGCTGTGTATAGACCCGGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1996271	C C	CCCCCCGG others(294): Show CCCCCCGGGTCTATACACAGCTCCTGGGCGGGCAGGGTCCGCCGGGTTTA CACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACAGCTCCT GGGCATGCAGGGTCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGT CCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCT ACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCC TGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCATGCAGG GT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	160	0.0063	301	c.141 others(320): Show c.1416+5793_1416+5794insACCCTGCATGCCCAGGAGCCGTGTGT AGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGG ACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCC CAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGT GTAGACCCGGGGGACCCTGCATGCCCAGGAGCTGTGTGTAGACCCGGGGG GACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGCGGACCCTGCCCGCC CAGGAGCTGTGTATAGACCCGGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1996271	C C	CCCCCCGG others(294): Show CCCCCCGGGTCTATACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTTTA CACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACAGCTCCT GGGCATGCAGGGTCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGT CCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCT ACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCC TGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCATGCAGG GT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0067 a0003c0014t0001g0067	1	160	0.0063	301	c.141 others(320): Show c.1416+5793_1416+5794insACCCTGCATGCCCAGGAGCCGTGTGT AGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGG ACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCC CAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGT GTAGACCCGGGGGACCCTGCATGCCCAGGAGCTGTGTGTAGACCCGGGGG GACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCC CAGGAGCCGTGTATAGACCCGGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19478038	A A	AGAGGGGG others(294): Show AGAGGGGGAGGGGGGAGAGAGGGGGAGAGAGGGGGAGAGGGGGGAGAGAG GGGGGAGCGGGGAGAGAGGGGGGAGGGGGGGAGAGAGGGGGGAGGGGGAG AGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAG AGGGGGGAGGGGGGAGAGGGGGGGAGGGGGAGAGGGGGGAGGGGGAGAGG GGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGG GAGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGG GG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	142	0.0070	301	c.525 others(318): Show c.525+8443_525+8444insCCCCCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCT CCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCTCTCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCCCC TCCCCCCTCTCTCCCCGCTCCCCCCTCTCTCCCCCCTCTCCCCCTCTCTC CCCCTCTCTCCCCCCTCCCCCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
METTL16_chr17_2411049_2516888	2448182	G G	GGCCGCCC others(294): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCTGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGATGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCC CA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0193 a0001c0001t0031g0193	1	23	0.0435	301	c.729 others(318): Show c.729-6624_729-6623insTGGGCAGAAGCGCCCCTCACCTCCCGGA TGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCATCCTCCCAGAC GGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCC CCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGC	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9			chr17	TogoVar
MID2_chrX_107820866_107936637	107910795	T T	TTCCCTTT others(294): Show TTCCCTTTCCTTTCCTTTCCTTTCTTTCCTTCCTTTCTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTCTTTCCTTTCCTTTCCTTTCCT TCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTTCCTTTCCT TC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	179	0.0056	301	c.107 others(320): Show c.1073+5172_1073+5173insCTTTCCTTTCCTTTCCTTTCTTTCCT TCCTTTCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTTCCTTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCT TTCCTTTCCTTTCCTTTCCTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTT CCTTTCCTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTCCTTTCCTTTCCTTCTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107910836	T T	TCTTTCCT others(294): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	178	0.0056	301	c.107 others(320): Show c.1074-5165_1074-5164insTTTCCTTTCCTTTCCTTTCCTTTCCT TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MSI2_chr17_57251523_57689689	57539630	G G	GCAGTGAG others(294): Show GCAGTGAGCTGAGGTCGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAA GACTCTCAAAAAAAAAAAAAAAAATTACTCCATCCTAGCACCCTACCACA ATAACTATTGTTTGCCTTCTTCCTGACATGCACATAAAATGTTTTTAAAG TTGGTTGTAACTGTGGGGTTAATATTTGTTGAGTGAGGTGTGGGCTCTGC CTCATCTGAGTTTTCTGTCCTGCCAGGGACACCTAGGAGTTCCAAACCAG CAAGATGTGATTCAATGCAGCTGAGCATCCTTCACCTCTGAGTCTCCTCT GT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0012 a0001c0001t0039g0012	1	33	0.0303	301	c.454 others(318): Show c.454+9907_454+9908insAGTGAGCTGAGGTCGTGCCACTGCACTC TAGCCTGGGTGACAGAGTAAGACTCTCAAAAAAAAAAAAAAAAATTACTC CATCCTAGCACCCTACCACAATAACTATTGTTTGCCTTCTTCCTGACATG CACATAAAATGTTTTTAAAGTTGGTTGTAACTGTGGGGTTAATATTTGTT GAGTGAGGTGTGGGCTCTGCCTCATCTGAGTTTTCTGTCCTGCCAGGGAC ACCTAGGAGTTCCAAACCAGCAAGATGTGATTCAATGCAGCTGAGCATCC TTCACCTCTGAGTCTCCTCTGTC	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(294): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGC GTGGAGGGGGCACGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGC GCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGT GTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGG GC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	218	0.0046	301	c.159 others(318): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTG GAGGGGGCACGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCG TGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTG GGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCG CGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYDGF_chr19_4652545_4675342	4663565	C C	CCCTCATT others(294): Show CCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCAT TCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAG CCTCCAATCTACCCTCCCCACCCACCCCACCCTCATTCTACAGCCTCCAA TCTACCCTCCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCC TCCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCCTCCCCAC CCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCC AT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0072 a0002c0002t0009g0072	1	218	0.0046	301	c.287 others(318): Show c.287+1310_287+1311insATGGGGTGGGTGGGGAGGGTAGATTGGA GGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTA GAATGAGGGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAG GGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGG TGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGG GGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGGT AGATTGGAGGCTGTAGAATGAGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYO1B_chr2_191240404_191430386	191398166	T T	TCCCGGAC others(294): Show TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAATCCCCCCACCTCCCT TCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	2	0.5000	301	c.229 others(320): Show c.2295+1671_2295+1672insCGGACGGGGCGGCTGGCCAGGCGGGG GGCTAATCCCCCCACCTCCCTTCTGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191398197	T T	TGATCCCC others(294): Show TGATCCCCCCACCTCCCTTCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCCTCACCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	81	0.0123	301	c.229 others(320): Show c.2295+1712_2295+1713insTCCCTTCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGCCGATCCCCCCACC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191398197	T T	TGATCCCC others(294): Show TGATCCCCCCACCTCCCTTCTGGACGGGGCGGCTGGCCGGGCGGGGGGGC TGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	81	0.0123	301	c.229 others(320): Show c.2295+1712_2295+1713insTCCCTTCTGGACGGGGCGGCTGGCCG GGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGCCGATCCCCCCACC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(294): Show TCCTTCCTTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTC TTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTC CCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCT CCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCC TCCCTCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTT CTTTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTT TC	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20129.hp2 HG03453.hp1 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0008 a0001c0009t0005 a0001c0009t0008	a0001c0009t0005g0075 a0001c0009t0008g0007 a0001c0009t0005g0075 a0001c0009t0008g0007	2	19	0.1053	301	c.153 others(318): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(294): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAG GGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGG AGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGG AC	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18995.hp2 HG01361.hp1 NA18995.hp2	a0004 a0006 a0004 a0006	a0004c0033 a0006c0030 a0004c0033 a0006c0030	a0004c0033t0004 a0006c0030t0004 a0004c0033t0004 a0006c0030t0004	a0004c0033t0004g0163 a0006c0030t0004g0329 a0004c0033t0004g0163 a0006c0030t0004g0329	2	8	0.2500	301	c.887 others(318): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCT GCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCC TCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTCCCTCCCT CCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NDUFB4_chr3_120591336_120607507	120600105	T T	TAAGGTTT others(294): Show TAAGGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	323	0.0031	301	c.181 others(316): Show c.181-991_181-990insTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCAAGGTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(294): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0001 a0006c0008t0001g0001	1	214	0.0047	301	c.29 others(312): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(294): Show ATATATATATATATATACATAATATATATATACACACACACATATATATA CACATATATATTATATATACATATATAATATATTATATATACATATATAA TATATTATATATACATATATAATATATTATATATACATATATAATATATT ATATATACATATATAATATATTATATATACATATATACATATATACATAT ATATTATATATACATATATACATATATTATATATACATATATACATATAT TATATATACATATATATACATATATATGTATGTGTGTGTATATGTGTGTG TG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03041.hp2 HG02559.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0051 a0001c0001t0021g0032 a0001c0001t0005g0051 a0001c0001t0021g0032	2	3	0.6667	301	c.410 others(320): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATATGTATATATGTATATATGTAT ATATAATATATTATATATGTATATATAATATATTATATATGTATATATAA TATATTATATATGTATATATAATATATTATATATGTATATATAATATATT ATATATGTATATATAATATATATGTGTATATATATGTGTGTGTGTATATA TATATTATGTATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241807891	C C	CTCCCCCT others(294): Show CTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	314	0.0032	301	c.-13 others(312): Show c.-1387_-1386insTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1301		chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993526	T T	TCCCCTCC others(294): Show TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCCTTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCTC CCCCTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCCC CCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0036 a0013c0018t0036	a0013c0018t0036g0152 a0013c0018t0036g0152	1	328	0.0030	301	c.56 others(312): Show c.5613_*5614insCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCCTTCCCCTCCCCCCTCCCCTCCC CCCTCCCCCTCCCTCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4898		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993534	C C	CCCCCTCC others(294): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0035 a0035	a0035c0039 a0035c0039	a0035c0039t0004 a0035c0039t0004	a0035c0039t0004g0151 a0035c0039t0004g0151	1	306	0.0033	301	c.56 others(312): Show c.5621_*5622insCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4906		chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535570	G G	GGGGGGGG others(294): Show GGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGG GT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0268 a0001c0003t0001g0268	1	306	0.0033	301	c.140 others(318): Show c.140+8453_140+8454insACCCACCATGCACCCATTGCCCCAGGAG GGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535571	A A	AGGGGGGA others(294): Show AGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT CGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTG GAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGT GGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTG GAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGT GGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGG TG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	291	0.0034	301	c.140 others(318): Show c.140+8452_140+8453insCACCCACCCTGCACCCATTGCCCCGGGA GGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCAGG AGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAGG AGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(294): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTC CC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18985.hp2 NA18747.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0004 a0001c0017t0004 a0001c0001t0004 a0001c0017t0004	a0001c0001t0004g0050 a0001c0017t0004g0046 a0001c0001t0004g0050 a0001c0017t0004g0046	2	261	0.0077	301	c.140 others(318): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCCCCAC CCACCATGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCA CCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTC CACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCG ACCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(294): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CTGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTC CC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0021 a0021	a0021c0061 a0021c0061	a0021c0061t0002 a0021c0061t0002	a0021c0061t0002g0051 a0021c0061t0002g0051	1	260	0.0038	301	c.140 others(318): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCCCCAC CCACCATGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCA CCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTC CACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCG ACCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar

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