Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(194): Show CTTTCCTTTCCTTTCTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTC TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTT TCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCTTC CT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0141	1	85	0.0118	201	c.107 others(220): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCTCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTCTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MIER2_chr19_300573_349796	309871	G G	GACACACA others(194): Show GACACACACACAAGGCTTCAGGGAAACGAGAAGGGACACACACACACGCA CACAAGGCTTCAGGGACACGAGAAGGGACACACACACACACGCACACAAG GCTTCAGGGAGACGAGAAGGGACACACACACACACGCACACAGGCTTCAG GGAGACGAGAAGGGACACACACACAAGGCTTCAGGGAAACGAGAAGGGAC AC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp2 HG03453.hp2 others(3): Show HG02258.hp1 HG02896.hp2 HG03453.hp2 HG03516.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0061 a0001c0001t0004g0073 a0001c0001t0004g0253 others(3): Show a0001c0001t0004g0061 a0001c0001t0004g0073 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0002t0002g0125	6	13	0.4615	201	c.985 others(216): Show c.985-947_985-946insGTGTCCCTTCTCGTTTCCCTGAAGCCTTGT GTGTGTGTCCCTTCTCGTCTCCCTGAAGCCTGTGTGCGTGTGTGTGTGTG TCCCTTCTCGTCTCCCTGAAGCCTTGTGTGCGTGTGTGTGTGTGTCCCTT CTCGTGTCCCTGAAGCCTTGTGTGCGTGTGTGTGTGTCCCTTCTCGTTTC CCTGAAGCCTTGTGTGTGTGT	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MLPH_chr2_237482251_237560322	237543326	G G	GTGGCAAG others(194): Show GTGGCAAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACG GTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGG ACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGG ACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGAC AT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	284	0.0035	201	c.153 others(218): Show c.1539+670_1539+671insCAAGTGGGGACAGTGGTGAGTGGGGGGA CAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGACATTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43500097	G G	GTGAGGGA others(194): Show GTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGGAGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGGTGGTGGTGGTGAGGGAGGTGGTGA TGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTG GTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGT GA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0189 a0001c0001t0006g0189	1	240	0.0042	201	c.748 others(218): Show c.748+1749_748+1750insAGGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGGAGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGGTGGTG GTGGTGAGGGAGGTGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGAT GGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGG TGATGGTGGAGGTGGTGGTGATG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL21_chr11_68886278_68908832	68892196	T T	TGGGGTCA others(194): Show TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACA CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGTGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG TGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGG TG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	12	0.0833	201	c.553 others(216): Show c.553+693_553+694insCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCCACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCC CACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGTGTGACCCCACCTCGCTCCCCTTCTCCT CCACCCTCCGCGCGTGACCCC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MRPL21_chr11_68886278_68908832	68892196	T T	TGGGGTCA others(194): Show TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACG CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG TGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGG TG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01074.hp1 others(7): Show HG00140.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01192.hp1 HG01952.hp2 HG04184.hp1 NA18950.hp2 NA18975.hp2 NA19002.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0001 a0001c0001t0001 a0006c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0039 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0059 a0006c0005t0001g0048	10	21	0.4762	201	c.553 others(216): Show c.553+693_553+694insCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCCACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCC CACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCT CCACCCTCCGCGCGTGACCCC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MRPL21_chr11_68886278_68908832	68892196	T T	TGGGGTCA others(194): Show TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACG CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGTGGAGCAAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG TGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGG TG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	12	0.0833	201	c.553 others(216): Show c.553+693_553+694insCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCCACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCC CACCTTGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCT CCACCCTCCGCGCGTGACCCC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MRPL21_chr11_68886278_68908832	68892196	T T	TGGGGTCA others(194): Show TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACG CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGTGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG GGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGG TG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp1 HG02145.hp2 others(5): Show HG01346.hp2 HG02055.hp1 HG02145.hp2 HG02976.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0057	8	19	0.4211	201	c.553 others(216): Show c.553+693_553+694insCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCCACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCC CACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCT CCACCCTCCGCGCGTGACCCC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MRPL21_chr11_68886278_68908832	68892196	T T	TGGGGTCA others(194): Show TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACG CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGTGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG TGGAGCGAGGTGGGGTCACGCGCGGAGGGTGAAGGAGAAGGGGAGCGAGG TG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	12	0.0833	201	c.553 others(216): Show c.553+693_553+694insCACCTCGCTCCCCTTCTCCTTCACCCTCCG CGCGTGACCCCACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCC CACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCT CCACCCTCCGCGCGTGACCCC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MRPL21_chr11_68886278_68908832	68892196	T T	TGGGGTCA others(194): Show TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACG CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGTGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG TGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGG TG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00544.hp2 others(120): Show HG00280.hp1 HG00544.hp1 HG00544.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02257.hp2 HG02293.hp1 HG02523.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18989.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0005c0006t0001 a0001c0001t0001 a0001c0001t0004 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0004g0108 a0005c0006t0001g0054	123	134	0.9179	201	c.553 others(216): Show c.553+693_553+694insCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCCACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCC CACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCT CCACCCTCCGCGCGTGACCCC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MSH4_chr1_75791882_75918242	75886347	T T	TAGCATGT others(194): Show TAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATATA TGATGTATTATATATAGCATGTATAGTATATATGATGTATTATATATAGC ATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATATATGAT GTATTATATATAGCATGTATAGTATATATGATGTATTATATATAGTGTAT AG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp1 HG01952.hp2 others(23): Show HG01358.hp2 HG01361.hp1 HG01952.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG03669.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18957.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19057.hp1 NA19066.hp1 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0268 a0001c0002t0001g0269 others(23): Show a0001c0002t0001g0239 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0285 a0001c0002t0001g0289 a0001c0002t0001g0297 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326	26	105	0.2476	201	c.210 others(220): Show c.2107+2526_2107+2527insAGCATGTATAGTATATATGATGTATT ATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATAT ATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATAT ATGATGTATTATATATAGTGTATAG	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75886347	T T	TAGCATGT others(194): Show TAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATATA TGATGTATTATATATAGCATGTATAGTATATATGATGTATTATATATAGC ATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATATATGAT GTATTATATATAGCATGTATAGTATATATGGTGTATTATATATAGTGTAT AG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0304 a0001c0002t0001g0304	1	80	0.0125	201	c.210 others(220): Show c.2107+2526_2107+2527insAGCATGTATAGTATATATGATGTATT ATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATAT ATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATAT ATGGTGTATTATATATAGTGTATAG	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MTNR1B_chr11_92964651_92987782	92966671	T T	TGGACATA others(194): Show TGGACATATATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTT TAGGGTACATGTGCACATTGTGCAGGTTAGAATGGCAATCATTAAAAAGT CA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	201	c.-30 others(212): Show c.-3055_-3054insGGACATATATTTTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA TTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGAATGG CAATCATTAAAAAGTCA	MTNR1B	ENSG00000134640.3	transcript	ENST00000257068.3	protein_coding		2979		chr11	TogoVar
MYNN_chr3_169768396_169794716	169771269	T T	TAAAAATT others(194): Show TAAAAATTTATGTTTATATATCATATATAAAAATTTATGTTTATATATCA TAAATATATAAAAAATTATGTTTATATATCATAAATATATAAAAAATTAT GTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAATATAA AAAATTATGTTTATATATCATAAATATAAAAATTTATGTTTATATATCAT AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	346	0.0029	201	c.-22 others(212): Show c.-2225_-2224insAAAAATTTATGTTTATATATCATATATAAAAATT TATGTTTATATATCATAAATATATAAAAAATTATGTTTATATATCATAAA TATATAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTAT ATATCATAAATATAAAAAATTATGTTTATATATCATAAATATAAAAATTT ATGTTTATATATCATAA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2126		chr3	TogoVar
MYO16_chr13_108624611_109213005	109023274	T T	TATATATT others(194): Show TATATATTTATATATTATACAGATATAAATATATATTTATATATTATACA GATATAAATATATATTTATATATTATACAGATATAAATATATATTTATAT ATTATACAGATATAAATATATATTTATATATTATACAGATATAAATATAT ATTTATATATTATACAGATATAAATATATATTTATATATTATACAGATAT AA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0007 a0005c0013t0007	a0005c0013t0007g0039 a0005c0013t0007g0039	1	124	0.0081	201	c.279 others(220): Show c.2796+3369_2796+3370insTTATATATTATACAGATATAAATATA TATTTATATATTATACAGATATAAATATATATTTATATATTATACAGATA TAAATATATATTTATATATTATACAGATATAAATATATATTTATATATTA TACAGATATAAATATATATTTATATATTATACAGATATAAATATATATTT ATATATTATACAGATATAAATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109023510	T T	TATATATT others(194): Show TATATATTTATATAGTATACAGATATAAATATATATTTATATAGTATACA GATATAAATATATATTTATATAGTATACAGATATAAATATATATTTATAT AGTATACAGATATAAATATATATTTATATAGTATACAGATATAAATATAT ATTTATATAGTATACAGATATAAATATATATTTATATAGTATACAGATAT AA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0010 a0018c0027t0010	a0018c0027t0010g0081 a0018c0027t0010g0081	1	149	0.0067	201	c.279 others(220): Show c.2796+3605_2796+3606insTTATATAGTATACAGATATAAATATA TATTTATATAGTATACAGATATAAATATATATTTATATAGTATACAGATA TAAATATATATTTATATAGTATACAGATATAAATATATATTTATATAGTA TACAGATATAAATATATATTTATATAGTATACAGATATAAATATATATTT ATATAGTATACAGATATAAATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1B_chr2_191240404_191430386	191332129	A A	ATTTTTGT others(194): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA AT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	167	0.0060	201	c.346 others(218): Show c.346+2113_346+2114insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACG CCCGGCTAATTTTTTGTATTTTT	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
NALCN_chr13_101048776_101421508	101391820	T T	TAAAAAAT others(194): Show TAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGCAGTCCG ACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0149 a0001c0001t0010g0149	1	159	0.0063	201	c.291 others(218): Show c.291+3362_291+3363insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	3/43			chr13	TogoVar
NEU4_chr2_241804193_241822413	241807030	C C	CTCCCCCC others(194): Show CTCCCCCCTCAACCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGACCTCCGCAGGCCACC CTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	307	0.0033	201	c.-22 others(212): Show c.-2248_-2247insTCCCCCCTCAACCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA CCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCTCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2162		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807495	T T	TCCCCCTC others(194): Show TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCT CAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCC TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	185	0.0054	201	c.-17 others(212): Show c.-1783_-1782insCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAAC CCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCT GCAGGCCACCTTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1697		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(194): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0225 a0002c0002t0010g0225	1	235	0.0043	201	c.46 others(212): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532217	C C	CCCCCCGC others(194): Show CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0018 a0001c0028t0018	a0001c0028t0018g0082 a0001c0028t0018g0082	1	295	0.0034	201	c.46 others(212): Show c.4640_*4641insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCC CGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2895		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532303	G G	GCCCCCCG others(194): Show GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0264 a0001c0001t0010g0264	1	315	0.0032	201	c.47 others(212): Show c.4726_*4727insCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2981		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(194): Show CTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCC GGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCT CCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0039 a0002c0003t0006g0039	1	242	0.0041	201	c.47 others(212): Show c.4754_*4755insTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCTGC AGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGC CCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAG ACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(194): Show CGGGGGGTGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGCGGGTGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG GG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0163 a0001c0003t0001g0163	1	313	0.0032	201	c.91+ others(214): Show c.91+423_91+424insTGTGGGGGGGTGAGGGAGTCGGGGGGTGCGGG TGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME8_chr7_37843597_37905397	37848185	A A	AGAAGAGG others(194): Show AGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAGGAAGAGGAGG AAGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGAAGAAGAGGAAGAA GAAGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAAGA GGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAAG AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	350	0.0029	201	c.-78 others(210): Show c.-784_-783insGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAG GAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGA AGAAGAGGAAGAAGAAGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAG AGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAG GAAGAAGAAGAAGAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		411		chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(194): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00735.hp2 others(22): Show HG00140.hp1 HG00642.hp2 HG00735.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01361.hp1 HG01433.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02602.hp2 HG02683.hp2 HG02818.hp2 HG03139.hp1 HG03491.hp1 HG03688.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18948.hp1 NA20752.hp2	a0001 a0005 a0019 a0001 a0005 a0019	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0014 a0001c0020 a0001c0064 a0005c0066 a0019c0068	a0001c0001t0004 a0001c0002t0004 a0001c0002t0005 others(12): Show a0001c0001t0004 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0004t0005 a0001c0005t0025 a0001c0006t0002 a0001c0006t0004 a0001c0007t0006 a0001c0009t0002 a0001c0014t0002 a0001c0020t0002 a0001c0064t0006 a0005c0066t0002 a0019c0068t0006	a0001c0001t0004g0098 a0001c0002t0004g0107 a0001c0002t0005g0053 others(21): Show a0001c0001t0004g0098 a0001c0002t0004g0107 a0001c0002t0005g0053 a0001c0002t0005g0106 a0001c0002t0006g0004 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0004t0005g0135 a0001c0005t0025g0065 a0001c0006t0002g0110 a0001c0006t0004g0059 a0001c0006t0004g0112 a0001c0007t0006g0104 a0001c0007t0006g0111 a0001c0009t0002g0045 a0001c0009t0002g0052 a0001c0009t0002g0067 a0001c0014t0002g0105 a0001c0020t0002g0058 a0001c0020t0002g0062 a0001c0020t0002g0108 a0001c0064t0006g0122 a0005c0066t0002g0109 a0019c0068t0006g0148	25	284	0.0880	201	c.140 others(218): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCTCTCC 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(194): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCC TGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0003 a0001c0002t0006g0003	2	261	0.0077	201	c.140 others(218): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCGA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTC CACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCG ACCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535625	A A	AGCACTCA others(194): Show AGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGG GGAGCACTCAGGATCCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGG GGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTC GG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0009 a0001c0036t0009	a0001c0036t0009g0295 a0001c0036t0009g0295	1	150	0.0067	201	c.140 others(218): Show c.140+8398_140+8399insCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCCCCACCCACCCTGCACCCATTGCCC CTGGGAGGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRIP1_chr21_14956235_15070000	15031048	T T	TTTCACTA others(194): Show TTTCACTACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACGGAG GATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAG GTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAG GTTCACCACATTCCCTTTCTATGTATATACACTCTGGAAGGCGCTCGGAG GA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19000.hp2 NA19087.hp2 HG00558.hp1 NA19000.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0004 a0001c0002t0009 a0002c0003t0003 a0001c0001t0004 a0001c0002t0009 a0002c0003t0003	a0001c0001t0004g0063 a0001c0002t0009g0054 a0002c0003t0003g0027 a0001c0001t0004g0063 a0001c0002t0009g0054 a0002c0003t0003g0027	3	303	0.0099	201	c.-45 others(222): Show c.-458+12446_-458+12447insTCCTCCGAGCGCCTTCCAGAGTGT ATATACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAGAGTGT ATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAGTGT ACACACATAGAAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAGAGTGT ATACACATAGAAAGGGAATGTAGTGAA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NUTM2F_chr9_94313198_94333644	94313356	T T	TATATAAT others(194): Show TATATAATATAATATAAAATATAATATATAATATAATATAAAATATAATA TATTATATTATATAAAATAATATATTATATTATATAAAATATAATATATT ATATTATATAAAATAATATATTATATTATATAAAATAATATATTATATTA TATAAAATATAATATATTATATTATATAAAATAATATATTATATTATATA AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0001 a0017c0016t0001	a0017c0016t0001g0102 a0017c0016t0001g0102	1	298	0.0034	201	c.51 others(212): Show c.5108_*5109insTTTATATAATATAATATATTATTTTATATAATAT AATATATTATATTTTATATAATATAATATATTATTTTATATAATATAATA TATTATTTTATATAATATAATATATTATATTTTATATAATATAATATATT ATTTTATATAATATAATATATTATATTTTATATTATATTATATATTATAT TTTATATTATATTATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4841		chr9	TogoVar
ODF3_chr11_191761_205258	196510	C C	CTGGTGAG others(194): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGG ACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCTTGGTGAGG AGGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATG GGTGGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGAC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	286	0.0035	201	c.-54 others(210): Show c.-545_-544insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGG ACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGG GACCTTGGTGAGGAGGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGG TGAGGGGAACATGGGTGGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGG ACATGGGGGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		250		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TATATTAT others(194): Show TATATTATATATATTATATATATAATATATATTATATATATTATATATAA TATATATTATATATAATATATATAATATATATTATATATAATATATATTA TATATAATATATATAATATATATTATATATAATATATATTATATATAATA TATATAATATATATTATATATATTATATATAATATATATAATATATATTA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02602.hp2 HG01884.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	341	0.0059	201	c.-23 others(212): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATATTATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATAATATATATTATATA TATAATATATATAATAT	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
PARD3_chr10_34104561_34820296	34605988	A A	ATATATCT others(194): Show ATATATCTCCTATATATATATCTCCTATATATATATATCTCCTATATATA TATCTCCTATATATATATATCTCCTATATATATATCTCCTATATATATCT CTCCTATATATATATCTCCTATATATATATCTCCTATATATATATCTCCT ATATATATATCTCCTATATATATATCTCCTATATATATATATCTCCTATA TC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	37	0.0270	201	c.223 others(220): Show c.223-88830_223-88829insGATATAGGAGATATATATATATAGGA GATATATATATAGGAGATATATATATAGGAGATATATATATAGGAGATAT ATATATAGGAGATATATATATAGGAGAGATATATATAGGAGATATATATA TAGGAGATATATATATATAGGAGATATATATATAGGAGATATATATATAT AGGAGATATATATATAGGAGATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(194): Show CCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCA GATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCA CTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCC CACCCACTGCCCAGATACGGACCCCCCCCCCCGCCCACTGCCCAGATACG GA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	177	0.0056	201	c.471 others(216): Show c.471+314_471+315insCACCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCGCCCACT GCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(194): Show CCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCC AGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCC ACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACG GA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	177	0.0056	201	c.471 others(216): Show c.471+314_471+315insCCACCCACTGCCCAGATACGGACCCCCCCC GCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGAC CCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACT GCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909848	A A	ACCCCCCC others(194): Show ACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCA GATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCAC TGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGAC CC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	158	0.0063	201	c.471 others(216): Show c.471+364_471+365insCCCCCCCACCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCC ACTGCCCAGATACGGACCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK4_chr19_1476428_1495350	1480828	G G	GGTGGCTC others(194): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGAA TCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCAT CTCTACTAAAAAAGGAAGGAAAGAGAAGGAAGAAAGGAAGGAAAGAAGGA AGGAAGTAAAGAAAAGGAAGGAAGGGAGGGAGGGAGGAAAGGGCCAGGCA CA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	398	0.0025	201	c.93 others(210): Show c.930_*931insTGTGCCTGGCCCTTTCCTCCCTCCCTCCCTTCCTTC CTTTTCTTTACTTCCTTCCTTCTTTCCTTCCTTTCTTCCTTCTCTTTCCT TCCTTTTTTAGTAGAGATGGGTTTCACCGTGTTGGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATTCGCCCACCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCAC	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		599		chr19	TogoVar
PCSK4_chr19_1476428_1495350	1480926	A A	GTCTCTAC others(194): Show GTCTCTACTAAAAAAGGAAGGAAAGAGAAGGAAGAAAGGAAGGAAAGAAG GAAGGAAGTAAAGAAAAGGAAGGAAGGGAGGGAGGGAGGAAAGGGCCAGG CACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGC GAATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	1	396	0.0025	201	c.83 others(210): Show c.833_*834insGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTC CTGACCTCGTGATTCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGTGCCTGGCCCTTTCCTCCCTCCCTCCCTTCCTTCCTT TTCTTTACTTCCTTCCTTCTTTCCTTCCTTTCTTCCTTCTCTTTCCTTCC TTTTTTAGTAGAGAC	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		502		chr19	TogoVar
PCSK6_chr15_101298933_101494707	101312150	C C	CCACCCCA others(194): Show CCACCCCATCATCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGC TCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGC CCACCCCATCGTCACACCCTCACAGCCCACCCCATCATCACCCCTCACAG CCCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAG CT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	311	0.0032	201	c.269 others(220): Show c.2699+1225_2699+1226insAGCTGTGAGGGGTGACGATGGGGTGA GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGG GCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG AGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGATGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(194): Show GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCAT CATCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCAT CGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCAT CA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18906.hp2 HG02486.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0016 a0001c0010 a0002c0016	a0001c0010t0001 a0002c0016t0001 a0001c0010t0001 a0002c0016t0001	a0001c0010t0001g0297 a0002c0016t0001g0013 a0001c0010t0001g0297 a0002c0016t0001g0013	2	249	0.0080	201	c.269 others(220): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGGTGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(194): Show GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCAT CGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCAT CA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	248	0.0040	201	c.269 others(220): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGTGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(194): Show GTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCAT CATCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCAT CGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCAT CA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp2 HG02683.hp1 others(1): Show HG01123.hp1 HG01175.hp2 HG02683.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0005t0001 a0001c0007t0006 a0001c0001t0001 a0001c0005t0001 a0001c0007t0006	a0001c0001t0001g0214 a0001c0005t0001g0262 a0001c0007t0006g0081 others(1): Show a0001c0001t0001g0214 a0001c0005t0001g0262 a0001c0007t0006g0081 a0001c0007t0006g0084	4	251	0.0159	201	c.269 others(220): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGGTGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGAGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(194): Show CAAAGAAAGACAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	202	0.0050	201	c.20- others(216): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTTTCTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTTTCTGTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGACA others(194): Show CAAAGACAGAAAGACAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAG AA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	202	0.0050	201	c.20- others(216): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTT TCTTTCTGTCTTTCTGTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PEBP1_chr12_118131124_118150584	118133183	T T	TATATTTT others(194): Show TATATTTTCATTACTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	401	0.0025	201	c.-30 others(212): Show c.-3027_-3026insATATTTTCATTACTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTC	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2940		chr12	TogoVar
PER3_chr1_7779291_7850177	7803433	C C	CAAAAAAT others(194): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	391	0.0026	201	c.980 others(216): Show c.980-254_980-253insATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(194): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCAC CCCTGCCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCT GCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCT GC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02897.hp2 HG01081.hp2 HG02897.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0059 a0001c0011t0003g0360 a0001c0011t0003g0059 a0001c0011t0003g0360	2	174	0.0115	201	c.775 others(216): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTGCCCCTGCCCCTTCACCCCTGCCCCT GCCCCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCC CTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(194): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCAC CCCTGCCCCTGCCCCTGCCCCTTCACCTCTGCCCCTGCCCCTTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCT GCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCT GC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0010 a0001c0017t0010	a0001c0017t0010g0359 a0001c0017t0010g0359	1	173	0.0058	201	c.775 others(216): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTGCCCCTGCCCCTTCACCTCTGCCCCT GCCCCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCC CTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(194): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCTTCAC CCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGC CCCTGCCCCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCT GCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCT GC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0399 a0001c0026t0001g0399	1	173	0.0058	201	c.775 others(216): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTC ACCCCTGCCCCTGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCC CTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar

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