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
MCUB_chr4_109555246_109693719	109597335	A A	AGACGGGG others(190): Show AGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0237 a0005c0010t0001g0237	1	187	0.0053	197	c.99+ others(214): Show c.99+36930_99+36931insTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGAC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCUB_chr4_109555246_109693719	109597463	A A	ACCCCCCC others(190): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0266 a0003c0003t0001g0266	1	333	0.0030	197	c.99+ others(214): Show c.99+37115_99+37116insGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCUB_chr4_109555246_109693719	109597502	C C	CGGGGGGC others(190): Show CGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	323	0.0031	197	c.99+ others(214): Show c.99+37091_99+37092insGCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG CTGACCCCCCCACCTCCCT	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MEGF6_chr1_3482951_3616508	3587884	G G	GGACAGGA others(190): Show GGACAGGAGTGGCTAGGAGGAGACAGGACCGGCCAGGAGTGGCCAGGAGT GGACAGGAGGAGACAGGAGGGGACAGGAGTGGATAGGAGGAGATAGGAGG GGACAGGAGTGGACAGAAGGAGACAGGAGGGGACAGGAGTGGATAGGAGT GGACAGGAGGAGACAGGAGGGGCCAGGAGTGGACAGGAGTGGACAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01243.hp1 others(13): Show HG00735.hp1 HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02559.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG04115.hp2 HG04199.hp2 NA19043.hp2 NA19066.hp1	a0002 a0009 a0023 others(7): Show a0002 a0009 a0023 a0032 a0036 a0051 a0073 a0078 a0085 a0095	a0002c0002 a0002c0037 a0002c0110 others(10): Show a0002c0002 a0002c0037 a0002c0110 a0009c0107 a0023c0022 a0032c0119 a0036c0125 a0036c0126 a0051c0066 a0073c0127 a0078c0124 a0085c0128 a0095c0115	a0002c0002t0001 a0002c0037t0001 a0002c0110t0011 others(11): Show a0002c0002t0001 a0002c0037t0001 a0002c0110t0011 a0009c0107t0005 a0023c0022t0012 a0023c0022t0037 a0032c0119t0008 a0036c0125t0001 a0036c0126t0010 a0051c0066t0017 a0073c0127t0022 a0078c0124t0003 a0085c0128t0008 a0095c0115t0001	a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0179 others(13): Show a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0179 a0002c0037t0001g0147 a0002c0110t0011g0253 a0009c0107t0005g0005 a0023c0022t0012g0254 a0023c0022t0037g0004 a0032c0119t0008g0087 a0036c0125t0001g0065 a0036c0126t0010g0066 a0051c0066t0017g0258 a0073c0127t0022g0071 a0078c0124t0003g0064 a0085c0128t0008g0067 a0095c0115t0001g0192	16	288	0.0556	197	c.376 others(214): Show c.376+7453_376+7454insTCCTGTCCACTCCTGTCCACTCCTGGCC CCTCCTGTCTCCTCCTGTCCACTCCTATCCACTCCTGTCCCCTCCTGTCT CCTTCTGTCCACTCCTGTCCCCTCCTATCTCCTCCTATCCACTCCTGTCC CCTCCTGTCTCCTCCTGTCCACTCCTGGCCACTCCTGGCCGGTCCTGTCT CCTCCTAGCCACTCCTGTC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MGAT4C_chr12_85950667_86261391	86110268	C C	CTATATAT others(190): Show CTATATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATA TATATATATAGTCTATATATATATAGACTATATATATATAGACTATATAT ATAGTCTATATATATAGTCTATATATATATATAGTCTATATATATATAGT CTATATATATATATAGTCTATATATATAGTCTATATATATATAGTCTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0047 a0001c0001t0055g0047	1	41	0.0244	197	c.-56 others(216): Show c.-56-60546_-56-60545insTAGACTATATATATATAGACTATATA TATAGACTATATATATATATAGACTATATATATATAGACTATATATATAT ATAGACTATATATATAGACTATATATATAGTCTATATATATATAGTCTAT ATATATATAGACTATATATATATATAGACTATATATATAGACTATATATA TATAGACTATATATATATATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110268	C C	CTATATAT others(190): Show CTATATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATA TATATATATAGTCTATATATATATAGACTATATATATATAGACTATATAT ATAGTCTATATATATATAGTCTATATATATATATAGTCTATATATATATA GTCTATATATATATATAGTCTATATATATAGTCTATATATATAGTCTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 HG02809.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0105 a0001c0001t0071 a0001c0001t0105	a0001c0001t0071g0017 a0001c0001t0105g0013 a0001c0001t0071g0017 a0001c0001t0105g0013	2	42	0.0476	197	c.-56 others(216): Show c.-56-60546_-56-60545insTAGACTATATATATAGACTATATATA TAGACTATATATATATATAGACTATATATATATAGACTATATATATATAT AGACTATATATATATAGACTATATATATAGTCTATATATATATAGTCTAT ATATATATAGACTATATATATATATAGACTATATATATAGACTATATATA TATAGACTATATATATATATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MICAL3_chr22_17782649_18029561	17876811	G G	GGGAGGTT others(190): Show GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAG GGAGGTTATGGAGGTGAGGGAGGTATGGAGGTTAGGGAGGTTAGGGAGGT GAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0096 a0002c0010t0002g0096	1	233	0.0043	197	c.224 others(216): Show c.2242-4789_2242-4788insATAACCTCCCTCACCTCCATAACCTC CCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAC CTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MND1_chr4_153339688_153420118	153381679	T T	TATAATAT others(190): Show TATAATATATATAATATAATATATATATATAATATATATAATATAATATA TATATATAATATATATAATATAATATATATATATTATATATAATATAATA TATATATATAATATATATAATATATATATATTATATTATATATATTATAT ATATATATTATATTATATATATTATATATATATATTATATATAATATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp1 NA18991.hp1 NA18945.hp2 NA18946.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288	3	319	0.0094	197	c.277 others(216): Show c.277-12580_277-12579insATATATATAATATAATATATATATAT AATATATATAATATAATATATATATATAATATATATAATATAATATATAT ATATTATATATAATATAATATATATATATAATATATATAATATATATATA TTATATTATATATATTATATATATATATTATATTATATATATTATATATA TATATTATATATAATATAATA	MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MND1_chr4_153339688_153420118	153381681	T T	TAATATAT others(190): Show TAATATATATAATATAATATATATATATATAATATATATAATATAATATA TATATATATAATATATATAATATAATATATATATATTATATATAATATAA TATATATATATAATATATATAATATATATATTATATTATATATATTATAT ATATATATTATATTATATATATTATATATATATATTATATATAATATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	286	0.0035	197	c.277 others(216): Show c.277-12580_277-12579insATATATATAATATAATATATATATAT ATAATATATATAATATAATATATATATATATAATATATATAATATAATAT ATATATATTATATATAATATAATATATATATATAATATATATAATATATA TATTATATTATATATATTATATATATATATTATATTATATATATTATATA TATATATTATATATAATATAA	MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MPI_chr15_74885042_74907219	74894041	T T	TGTGTGTG others(190): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGT GCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGC AATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0066 a0001c0003t0005g0066	1	420	0.0024	197	c.670 others(212): Show c.670+779_670+780insTTTCTGAGCCAGGGTCTCTTTCTGTTGCCC CAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCC CGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTT TTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGT	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MSLN_chr16_755734_773862	767748	G G	GGGGGCGC others(190): Show GGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCG TGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGC GCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACG TGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0292 a0001c0009t0001g0292	1	320	0.0031	197	c.159 others(214): Show c.1596+292_1596+293insGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGA GGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGG GGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTG GAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(190): Show TAATATATATTATATATATAATATATAATATATAATATATATTATATATA ATATATATAATATATATAATATATATTATATATATAATATATAATATATA ATATATATTATTATATATAATATATATTATATATATAATATATATTATAT ATAATATATATTATATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	50	0.0200	197	c.547 others(214): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATAATAATATATATTATATATTATATATTATATATATAATATAT ATTATATATATTATATATATTATATATAATATATATTATATATTATATAT TATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(190): Show TAATATATATTATATATATAATATATAATATATAATATATATTATATATA TAATATATAATATATATAATATATATTATATATATAATATATAATATATA ATATATATTATTATATATAATATATATTATATATATAATATATATTATAT ATAATATATATTATATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00609.hp2 others(53): Show HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00733.hp2 HG00738.hp2 HG01168.hp1 HG01256.hp1 HG01515.hp2 HG01516.hp1 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02155.hp1 HG02165.hp1 HG02293.hp2 HG02602.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18960.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18978.hp1 NA18981.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18999.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA19090.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0013	a0001c0002 a0001c0006 a0001c0014 others(7): Show a0001c0002 a0001c0006 a0001c0014 a0001c0029 a0001c0031 a0001c0044 a0003c0010 a0005c0039 a0006c0015 a0013c0042	a0001c0002t0001 a0001c0006t0001 a0001c0014t0001 others(7): Show a0001c0002t0001 a0001c0006t0001 a0001c0014t0001 a0001c0029t0001 a0001c0031t0001 a0001c0044t0001 a0003c0010t0001 a0005c0039t0001 a0006c0015t0001 a0013c0042t0001	a0001c0002t0001g0001 a0001c0002t0001g0025 a0001c0002t0001g0052 others(52): Show a0001c0002t0001g0001 a0001c0002t0001g0025 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0172 a0001c0002t0001g0199 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0288 a0001c0006t0001g0321 a0001c0006t0001g0323 a0001c0006t0001g0324 a0001c0006t0001g0325 a0001c0006t0001g0326 a0001c0006t0001g0328 a0001c0006t0001g0329 a0001c0006t0001g0333 a0001c0014t0001g0050 a0001c0014t0001g0051 a0001c0029t0001g0065 a0001c0031t0001g0070 a0001c0044t0001g0332 a0003c0010t0001g0106 a0003c0010t0001g0111 a0003c0010t0001g0112 a0005c0039t0001g0118 a0006c0015t0001g0113 a0006c0015t0001g0258 a0013c0042t0001g0109	56	105	0.5333	197	c.547 others(214): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATAATAATATATATTATATATTATATATTATATATATAATATAT ATTATATATATTATATATTATATATATAATATATATTATATATTATATAT TATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(190): Show TAATATATATTATATATATAATATATAATATATAATATATATTATATATA TAATATATAATATATATAATATATATTATATATATAATATATAATATATA TTATATATTATAATATATAATATATATTATATATATAATATATATTATAT ATAATATATATTATATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0037 a0001c0030t0001g0037	1	50	0.0200	197	c.547 others(214): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATTATAATATATAATATATATTATATATTATATATATAATATAT ATTATATATATTATATATTATATATATAATATATATTATATATTATATAT TATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(190): Show TAATATATATTATATATATAATATATAATATATATTATATATTATATATA TAATATATAATATATATAATATATATTATATATATAATATATAATATATA ATATATATTATTATATATAATATATATTATATATATAATATATATTATAT ATAATATATATTATATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	50	0.0200	197	c.547 others(214): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATAATAATATATATTATATATTATATATTATATATATAATATAT ATTATATATATTATATATTATATATATAATATATAATATATATTATATAT TATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(190): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGG TAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTG CTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0269 a0002c0002t0012g0269	1	4	0.2500	197	c.160 others(214): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACCACCATCACCACCACCACCACTA CTGCCACCGCCGCCACCACCACCATCACCACCACCACCATCACCACCATC ACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(190): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTG GTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	4	0.2500	197	c.160 others(214): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCA CCACCACCATCACCACCACCACCATCGCCGCCACCACCACCACCACCATC ACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYNN_chr3_169768396_169794716	169770604	T T	TATAAATA others(190): Show TATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03139.hp1 HG02055.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	348	0.0057	197	c.-28 others(208): Show c.-2890_-2889insATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTAT ATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTT ATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2791		chr3	TogoVar
MYO1B_chr2_191240404_191430386	191332129	A A	ATTTTTGT others(190): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	167	0.0060	197	c.346 others(214): Show c.346+2113_346+2114insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTGTATTTTT	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYT1_chr20_64159452_64247253	64174036	G G	GTAGCATC others(190): Show GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02976.hp1 others(1): Show HG02622.hp1 HG02886.hp2 HG02976.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0108 others(1): Show a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0108 a0001c0002t0006g0136	4	222	0.0180	197	c.-99 others(214): Show c.-99+9297_-99+9298insTAGCATCTTTCCTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTA	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64174630	C C	CCTCCTGC others(190): Show CCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCT CCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02976.hp1 HG03516.hp2 HG00099.hp2 HG02976.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0089 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0001t0003g0089 a0001c0002t0002g0091 a0001c0002t0002g0092	3	154	0.0195	197	c.-99 others(214): Show c.-99+9909_-99+9910insTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACT TCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175298	G G	GTAGTTGT others(190): Show GTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTGTAGCATCTTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	219	0.0046	197	c.-99 others(216): Show c.-99+10584_-99+10585insACTTCTCCTCCTGCAGCATCTTTCCT AGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGT AGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGT AGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTGTAGCATCTTTCCTAGT TGTGTCCATTTCCCCTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175580	T T	TCTGCAGC others(190): Show TCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	206	0.0049	197	c.-99 others(216): Show c.-99+10843_-99+10844insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175630	C C	CCTGCAGC others(190): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	186	0.0054	197	c.-99 others(216): Show c.-99+10893_-99+10894insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTCCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175698	C C	CCTGTAGT others(190): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	74	0.0135	197	c.-99 others(216): Show c.-99+10959_-99+10960insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64176227	C C	CCTGTAGC others(190): Show CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	49	0.0204	197	c.-99 others(216): Show c.-99+11490_-99+11491insGTAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64176333	C C	CCTGCAGC others(190): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCT CCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	212	0.0047	197	c.-99 others(216): Show c.-99+11596_-99+11597insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTC CATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64212162	A A	AGTGGGGG others(190): Show AGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTG GTGGGGGGCCAGGGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTG GTGGGGGGCCAGGGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGCCGTGG TGGGGGCCGTGGTGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCAGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0080 a0001c0017t0002g0080	1	135	0.0074	197	c.151 others(212): Show c.1517+55_1517+56insGCCGTGGTGGGGGCCGTGGTGGGGGGCCAG GGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCAG GGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGCCGTGGTGGGGGCCGTGG TGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCAGGGTGGGGGCCAGGGT GGGGGCCGTGGTGGGGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57688283	T T	TATTATAT others(190): Show TATTATATAAAATATATATGTGTACAATGTACACCTATATACTCTATATG TGTACAATGTACACCTATATACTCTATATGTGTACAATGTACACCTATAT ACTCTATATGTGTACAATGTACACCTATATACTCTATATGTGTACAATGT ACACCTATATATACTCTATATGTGTACAATGTACACCTATATATACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	286	0.0035	197	c.37 others(208): Show c.3785_*3786insATTATATAAAATATATATGTGTACAATGTACACC TATATACTCTATATGTGTACAATGTACACCTATATACTCTATATGTGTAC AATGTACACCTATATACTCTATATGTGTACAATGTACACCTATATACTCT ATATGTGTACAATGTACACCTATATATACTCTATATGTGTACAATGTACA CCTATATATACTC	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2920		chr15	TogoVar
NAA15_chr4_139296505_139396384	139385302	T T	TATATATA others(190): Show TATATATATATAATATATATATATATATAATATATATATATAATATATAT ATATATATAATATATATATATAATATATATATATATATAATATATATATA TAATATATATATATATAATATATATATATAATATATATATATAATATATA TATAATATATTATATATATATATAATATATATTATATATATTATATAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0033 a0001c0004t0006g0033	1	332	0.0030	197	c.230 others(214): Show c.2302+330_2302+331insATATAATATATATATATATATAATATAT ATATATAATATATATATATATATAATATATATATATAATATATATATATA TATAATATATATATATAATATATATATATATAATATATATATATAATATA TATATATAATATATATATAATATATTATATATATATATAATATATATTAT ATATATTATATAAATATAT	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NBAS_chr2_15161916_15566334	15219920	A A	ACCTCCCG others(190): Show ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0029 a0029	a0029c0041 a0029c0041	a0029c0041t0001 a0029c0041t0001	a0029c0041t0001g0027 a0029c0041t0001g0027	1	222	0.0045	197	c.623 others(214): Show c.6237-953_6237-952insGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCC AGCCGCCCCGTCCGGGAGG	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	47/51			chr2	TogoVar
NCS1_chr9_130167404_130242303	130221881	A A	AATATAAA others(190): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01109.hp1 others(21): Show HG00741.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01261.hp1 HG01358.hp2 HG01884.hp2 HG01928.hp1 HG02280.hp2 HG02451.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp2 NA18906.hp2 NA18959.hp1 NA18966.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0001t0050 a0001c0001t0114 others(20): Show a0001c0001t0022 a0001c0001t0050 a0001c0001t0114 a0001c0001t0165 a0001c0001t0167 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0002t0021 a0001c0002t0024 a0001c0002t0127 a0001c0002t0141 a0001c0002t0143 a0001c0002t0145 a0001c0002t0148 a0001c0002t0150 a0001c0002t0155 a0001c0002t0157 a0001c0002t0161 a0001c0002t0171 a0001c0002t0180 a0001c0002t0199	a0001c0001t0022g0347 a0001c0001t0050g0298 a0001c0001t0114g0290 others(21): Show a0001c0001t0022g0347 a0001c0001t0050g0298 a0001c0001t0114g0290 a0001c0001t0165g0346 a0001c0001t0167g0064 a0001c0002t0001g0013 a0001c0002t0003g0069 a0001c0002t0008g0042 a0001c0002t0011g0216 a0001c0002t0021g0034 a0001c0002t0021g0299 a0001c0002t0024g0220 a0001c0002t0127g0127 a0001c0002t0141g0017 a0001c0002t0143g0316 a0001c0002t0145g0315 a0001c0002t0148g0130 a0001c0002t0150g0342 a0001c0002t0155g0344 a0001c0002t0157g0173 a0001c0002t0161g0309 a0001c0002t0171g0302 a0001c0002t0180g0257 a0001c0002t0199g0110	24	47	0.5106	197	c.308 others(212): Show c.308-766_308-765insTAAATTATGTATATATAAATATATATACAT AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241805214	T T	TCCCTCCC others(190): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0141 a0002c0003t0002g0141	1	245	0.0041	197	c.-40 others(208): Show c.-4064_-4063insCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3978		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805561	C C	CCCTCCCC others(190): Show CCCTCCCCCTCAACCCAGGGACCTCCACAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGAGAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCGGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	278	0.0036	197	c.-37 others(208): Show c.-3717_-3716insCCTCCCCCTCAACCCAGGGACCTCCACAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAACCCAGAGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAG GGACCTCGGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCGGCA GGCCACCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3631		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806154	A A	ACCCTCCC others(190): Show ACCCTCCCTCCCCCCTCAGCCCAGAGACCTCCGCAGGCCTCCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0055	1	235	0.0043	197	c.-31 others(208): Show c.-3124_-3123insCCCTCCCTCCCCCCTCAGCCCAGAGACCTCCGCA GGCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGAGACCTC CGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3038		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(190): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATATATGTACAGTATGTATACCGTATACAGCATGTATACCGT ATATATGTACAGTATGTATACCGTATACAGTATGTATACCGTATACATAT ACAGTATGTATACCGTATACAGTATGTATACCGTATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0073 a0001c0001t0013g0073	1	118	0.0085	197	c.-75 others(216): Show c.-75+17711_-75+17712insTACTGTGTATATATACGGTATACATA CTGTATACGGTATACATACTGTATATGTATACGGTATACATACTGTATAC GGTATACATACTGTACATATATACGGTATACATGCTGTATACGGTATACA TACTGTACATATATACAGTATACATGCTGTATACAGTATACATGCTGTAT ACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(190): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATATATGTACAGTATGTATACCGTATACAGCATGTATACTGT ATATATGTACAGTATGTATACCGTATACAGTATGTATACCGTATACATAT ACAGTATGTATACCGTATACAGTATGTATACCGTATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0076 a0001c0001t0013g0076	1	118	0.0085	197	c.-75 others(216): Show c.-75+17711_-75+17712insTACTGTGTATATATACGGTATACATA CTGTATACGGTATACATACTGTATATGTATACGGTATACATACTGTATAC GGTATACATACTGTACATATATACAGTATACATGCTGTATACGGTATACA TACTGTACATATATACAGTATACATGCTGTATACAGTATACATGCTGTAT ACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCATCC others(190): Show CCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTG TACTCCTCCTCCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCC CCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCCCGTCCCACCCCTAAA CCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACCCCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0095 a0002c0003t0001g0095	1	4	0.2500	197	c.270 others(212): Show c.270+282_270+283insATCCCACCCCTGCACCCTTCCTCCCTCTGC CCCCGTCCCACGCCTGTACTCCTCCTCCTCTCCCCCGTCACACCCCTGCA CCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCC CCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCAC CCCTCCTCCCTCTTCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGGGG others(190): Show GGTGGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0092 a0001c0001t0011g0092	1	302	0.0033	197	c.140 others(214): Show c.140+8304_140+8305insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664487	T T	TCCCCTCC others(190): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0117 a0001c0001t0031g0117	1	322	0.0031	197	c.433 others(214): Show c.433+1033_433+1034insGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPTC_chr1_203489153_203513949	203500194	A A	ACCTACCT others(190): Show ACCTACCTCCACCACCACCCACCTCCACCTCCAGCACCCACCTCCACCCC TACCACCACCCACCACCACCACCACCCACCTCCACCACCTACCACCACCA CCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCACCCACC TCCACCCCTACCACCACCACCACCACCCACCTCCACCACCTACCACTG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19070.hp1 NA18977.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	404	0.0050	197	c.732 others(212): Show c.732+345_732+346insTACCTCCACCACCACCCACCTCCACCTCCA GCACCCACCTCCACCCCTACCACCACCCACCACCACCACCACCCACCTCC ACCACCTACCACCACCACCACCACCTACCTCCACCACCACCCACCTCCAC CACCACCACCACCCACCTCCACCCCTACCACCACCACCACCACCCACCTC CACCACCTACCACTGCC	OPTC	ENSG00000188770.10	transcript	ENST00000367222.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
P2RX5_chr17_3668227_3701155	3685978	T T	TCCCCCGC others(190): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02080.hp1 HG01496.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0232 a0001c0001t0001g0018 a0001c0001t0001g0232	2	284	0.0070	197	c.981 others(214): Show c.981+2033_981+2034insGCGGGGGACGTTGGGAGGGTCCCTGGGG GTCCCGCTGTGCGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAG GGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGAGGGG GACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGCGTTCTCCTGTTCTGAG GCTGGGCGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(190): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCTCCCCTCCACTCCC CTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0269 a0001c0001t0044g0269	1	68	0.0147	197	c.226 others(216): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCTCCCCTCCACTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCT CCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168793366	C C	CATATATA others(190): Show CATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCA TATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATA TATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATA TATACATATATATGTGATATATATCGCATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	1	136	0.0074	197	c.196 others(218): Show c.1964+81451_1964+81452insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGATATATATCGCATATAT ATACATATATATGTGATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(190): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	330	0.0030	197	c.255 others(216): Show c.2556+1616_2556+1617insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACC ATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCA TCACCTTCACCACTCACTGTCGTCACCACCATCACCACCACCTTCACCAC TCACTGTCGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(190): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGGTGATGGTGG TGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG00741.hp1 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0256 a0002c0002t0002g0234 a0002c0002t0002g0256	2	331	0.0060	197	c.255 others(216): Show c.2556+1616_2556+1617insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCA CCTTCACCACTCACTGTCGTCACCACCATCACCACCACCACCTTCACCAC TCACTGTCGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PASD1_chrX_151558675_151681739	151562914	G G	GGGCGGGG others(190): Show GGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGG GGGCGGGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGGGCGGG GGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGG GGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0189	1	214	0.0047	197	c.-95 others(206): Show c.-953_-952insGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGG CAGCTGGGGCGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGG CGGGGGGGGCGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCG GGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGG GGGCGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		760		chrX	TogoVar
PAX1_chr20_21700664_21723481	21721572	T T	TATATATG others(190): Show TATATATGTATTACACATATAACATATATGTATTACATATATGTATTACA CATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	367	0.0027	197	c.70 others(208): Show c.7010_*7011insATATATGTATTACACATATAACATATATGTATTA CATATATGTATTACACATATAACATATATGTATTACATATATGTATTACA TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3092		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721572	T T	TATATATG others(190): Show TATATATGTATTACATATATAACATATATGTATTACATATATGTATTACA TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG02258.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	2	368	0.0054	197	c.70 others(208): Show c.7010_*7011insATATATGTATTACATATATAACATATATGTATTA CATATATGTATTACATATATAACATATATGTATTACATATATGTATTACA TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3092		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45910079	A A	ACCACTGC others(190): Show ACCACTGCCCAGATATGGACCTGGCCCACCCACTGCCCAGATACGGACCC CCCCCCACCCACTGCCCAGATATGGACCTGGCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATATGGACCCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCACCCACTGCCCAGATATGGACCTGGCCAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0010 a0001c0002t0006g0010	1	45	0.0222	197	c.471 others(212): Show c.471+607_471+608insTGGACCTGGCCCACCCACTGCCCAGATACG GACCCCCCCCCACCCACTGCCCAGATATGGACCTGGCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATATGGACCCCCCCCCACCC ACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATATGGACCTGGC CACCCACTGCCCAGATA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar

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