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
LRPAP1_chr4_3498612_3537422	3509228	T T	TTAAGACG others(378): Show TTAAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCA GTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACA CGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTC ACACACGGCAGTCAACGCGTGGACACCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01257.hp1 HG01496.hp1 others(12): Show HG01069.hp2 HG01257.hp1 HG01496.hp1 HG03942.hp1 HG04204.hp2 HG06807.hp1 NA18948.hp1 NA18950.hp1 NA18956.hp2 NA18957.hp2 NA18966.hp2 NA18990.hp1 NA19007.hp2 NA19063.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0052 a0001c0001t0134 others(2): Show a0001c0001t0008 a0001c0001t0052 a0001c0001t0134 a0001c0001t0136 a0001c0001t0137	a0001c0001t0008g0003 a0001c0001t0008g0041 a0001c0001t0008g0073 others(5): Show a0001c0001t0008g0003 a0001c0001t0008g0041 a0001c0001t0008g0073 a0001c0001t0008g0144 a0001c0001t0052g0035 a0001c0001t0134g0140 a0001c0001t0136g0137 a0001c0001t0137g0112	15	338	0.0444	385	c.37 others(396): Show c.3745_*3746insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGT CCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCC GGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAG TCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTT A	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3745		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509228	T T	TTGAGACG others(378): Show TTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCA GTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACA CGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTC ACACACGGCAGTCAACGCGTGGACACCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0161 a0001c0014t0161	a0001c0014t0161g0132 a0001c0014t0161g0132	1	324	0.0031	385	c.37 others(396): Show c.3745_*3746insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGT CCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCC GGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAG TCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTC A	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3745		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509283	T T	TTGAGACG others(378): Show TTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCA GTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACA CGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTC ACACACGGCAGTCAACGCGTGGACACCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(33): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00741.hp2 HG01081.hp1 HG02015.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp2 HG02293.hp2 HG03017.hp1 HG03490.hp1 HG03704.hp1 NA18612.hp1 NA18747.hp1 NA18944.hp2 NA18951.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18998.hp2 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0003 a0001c0001t0019 a0001c0001t0020 others(10): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0020 a0001c0001t0138 a0001c0001t0140 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0165 a0001c0001t0167 a0001c0014t0020	a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0038 others(22): Show a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0038 a0001c0001t0003g0088 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0110 a0001c0001t0003g0139 a0001c0001t0003g0147 a0001c0001t0003g0161 a0001c0001t0019g0036 a0001c0001t0019g0101 a0001c0001t0019g0159 a0001c0001t0020g0020 a0001c0001t0138g0117 a0001c0001t0140g0136 a0001c0001t0147g0119 a0001c0001t0148g0111 a0001c0001t0149g0120 a0001c0001t0150g0181 a0001c0001t0151g0138 a0001c0001t0165g0116 a0001c0001t0167g0131 a0001c0014t0020g0133	36	258	0.1395	385	c.36 others(396): Show c.3690_*3691insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGT CCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCC GGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAG TCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTC A	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3690		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509718	G G	CACTGCTG others(378): Show CACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCA GTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACA CGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTC ACACACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTG GAGTCACACACGGCAGTCAACGCGTGGACACCGGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0159 a0001c0001t0159	a0001c0001t0159g0124 a0001c0001t0159g0124	1	418	0.0024	385	c.32 others(396): Show c.3256_*3257insTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACT CCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTG TGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCC GTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGA CTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGC GTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTC CACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCG GTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGT G	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3256		chr4	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(378): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACACAGCAGGCACGGCAGAAAG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	234	0.0043	385	c.-42 others(396): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCTTTCTGCCGTGCCTGCTGTGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT C	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132359154	C C	CAGTGTGG others(378): Show CAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGG TGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGG AGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAA GGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGT GGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGG AGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGT GATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCC GAGGTGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG00642.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0009	2	280	0.0071	385	c.117 others(404): Show c.1171-2301_1171-2300insTGTGGGGAGGAGCCGAGGTGGTGGAG CAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGG TGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGC CGAGGTGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCGTGGGGAGGA GCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGT GGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGC AGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGT GGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAG GTGGTGGAG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186476	G G	GGAGGAAC others(378): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	309	0.0032	385	c.27 others(396): Show c.2721_*2722insTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT C	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2513		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1929724	C C	CCCCCACT others(378): Show CCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCG CCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCC CCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCTACTGCCA CATCCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCATCCCCCAC TGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCATC CCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACATCCCCTCGCC CCGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCC TCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 NA18522.hp1 HG01884.hp2 HG02257.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149	3	249	0.0120	385	c.180 others(404): Show c.1807+6962_1807+6963insACGGGGCGAGGGGACGTGGCAGCGGG GACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCA GCGGGGACGGGGCGAGGGGATGTGGCAGTGGGGACGGGGCGAGGGGACGT GGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGG GGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGTGGACGTGG TGGTGGGATGTGGCAGTAGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTG GGGGATGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTG GCAGTGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929824	T T	TCGCCCAT others(378): Show TCGCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGT CCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCACTGCC ACGTCCCCTCGCCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCC ACTGCCACAACCCCTCGCCCCGTCCCCACTGCCACAACCCCTCGCCCCGT CCCCCACTGCCACAACCCCTCGCCCCGTCCCCACTGCCACGTCCCCCTCG CCCCGTCCCCACTGCCACAACCCCTCGCCCCGTCCCCCACTGCCACGTCC CCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCA CGTCCCCTCGCCCATCCCCCACTGCCACGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	12	0.0833	385	c.180 others(404): Show c.1807+6862_1807+6863insGAGGGGACGTGGCAGTGGGGGATGGG CGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGTTGTGGCAGT GGGGACGGGGCGAGGGGGACGTGGCAGTGGGGACGGGGCGAGGGGTTGTG GCAGTGGGGGACGGGGCGAGGGGTTGTGGCAGTGGGGACGGGGCGAGGGG TTGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGGC GAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGCGGGGACG GGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGG GGATGGGCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1940974	C C	CCCTCCTC others(378): Show CCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGG CCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCC GCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTC CCCCCGCAGGCCTCACCCTCCTCTTCCTCCCCCAGGCCTCACCCTCCTCT TCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCT CCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGC CTCACCCTCCTCTTCCTCTCCCAGGCCTCACCCTCCTCTTCCTCCCCCCG CAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	162	0.0062	385	c.159 others(404): Show c.1597-4078_1597-4077insCTGAGGCCTGGGAGAGGAAGAGGAGG GTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGA GGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGG GAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGC GGGGGGAGGAAGAGGAGGGTGAGGCCTGGGGGAGGAAGAGGAGGGTGAGG CCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGG TGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAG GAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGG AAGAGGAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MARCHF1_chr4_163519718_164389019	163894562	T T	TATATATA others(378): Show TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATGCATGTGATGCATATATATATA TGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCA TGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATGTG ATGCATATATATATATGCATGTGATGCATATATATATATGCATGTGATGC ATATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATAT ATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATAT ATGCATGTGATGCATATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0032 a0001c0001t0026g0032	1	101	0.0099	385	c.-38 others(404): Show c.-38-40394_-38-40393insGCATCACATGCATATATATATATGCA TCACATGCATATATATATATGCATCACATGCATATATATATATGCATCAC ATGCATATATATATATGCATCACATGCATATATATATGCATCACATGCAT ATATATATATGCATCACATGCATATATATATATGCATCACATGCATATAT ATATATGCATCACATGCATATATATATATGCATCACATGCATATATATAT ATGCATCACATGCATATATATATATGCATCACATGCATATATATATATGC ATCACATGCATATATATATATGCATCACATGCATATATATATGCATCACA TGCATATATATATATGCATCACATGCATATATATATATGCATCACATGCA TATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(378): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATA AGTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAAT TATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTT ATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATA TAACTTATAAGTTATAATATATAACTTATAATTATAAGTTATAATATATA ACTTATAAGTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG02895.hp1 others(2): Show HG01884.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0162 a0007c0007t0001g0163 a0007c0007t0001g0164 others(2): Show a0007c0007t0001g0162 a0007c0007t0001g0163 a0007c0007t0001g0164 a0007c0007t0001g0212 a0007c0007t0001g0217	5	12	0.4167	385	c.710 others(402): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAATTATAAGTTATATATTATAACTT ATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTA TATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATATATTAT AACTTATAATTATAAATTATATATTATAACTTATAATTAAAAATTATAAT ATATAACTTATAATTATAAATTATATATTATAAATTATAATATATAAATT ATATATATATATTATAAATTTATAATATATAAATTATATATTATAATTTA TAATTTATAATTATAAATTATATATTATAAATTATAATTATAAATTATAT ATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(378): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATA AGTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAAT TATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTT ATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATA TAACTTATAATTATAAGTTATAATATATAACTTATAAGTTATAATATATA ACTTATAAGTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00544.hp1 others(58): Show HG00099.hp1 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01934.hp1 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG03239.hp2 HG03490.hp1 HG03579.hp1 HG03704.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18960.hp1 NA18968.hp1 NA18971.hp1 NA18977.hp1 NA18984.hp1 NA18987.hp1 NA18998.hp2 NA19000.hp1 NA19011.hp1 NA19012.hp1 NA19062.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0009 others(4): Show a0001 a0002 a0009 a0012 a0019 a0026 a0031	a0001c0001 a0002c0002 a0009c0013 others(4): Show a0001c0001 a0002c0002 a0009c0013 a0012c0015 a0019c0039 a0026c0044 a0031c0017	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0009c0013t0002 a0012c0015t0006 a0019c0039t0001 a0026c0044t0001 a0031c0017t0001	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0023 others(56): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0202 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0004g0231 a0001c0001t0004g0238 a0001c0001t0004g0242 a0002c0002t0001g0065 a0009c0013t0002g0172 a0012c0015t0006g0170 a0019c0039t0001g0061 a0026c0044t0001g0254 a0031c0017t0001g0225	61	68	0.8971	385	c.710 others(402): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTA TATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATATATTAT AACTTATAATTATAAATTATATATTATAACTTATAATTAAAAATTATAAT ATATAACTTATAATTATAAATTATATATTATAAATTATAATATATAAATT ATATATATATATTATAAATTTATAATATATAAATTATATATTATAATTTA TAATTTATAATTATAAATTATATATTATAAATTATAATTATAAATTATAT ATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYDGF_chr19_4652545_4675342	4663576	C C	CAGCCTCC others(378): Show CAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCATTCTACAGCCTC CAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTA CCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCC CACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCAC CCCACCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCC TCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCT ACAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCATTCTACAGCCT CCAATCTACCCTCCCCACCCACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0050 a0002c0003t0002g0050	1	382	0.0026	385	c.287 others(402): Show c.287+1299_287+1300insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGGTAGATTG GAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTG TAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATG AGGGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGG GGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGT GGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGG GTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGGTAGATT GGAGGCT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYT1L_chr2_1784113_2336275	1952711	C C	CTTCCCTC others(378): Show CTTCCCTCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTC CCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCT CCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCC CTTTCTTTCCTTCCCTCCTTCCTTTCCTTCCCTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	102	0.0098	385	c.153 others(402): Show c.153-9378_153-9377insAGAAGGGAAGGAAAGGAAGGAGGGAAGG AAAGAAAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGA GGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGG AGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGG GAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAG GGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGA AGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGA GAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGGAAG GAGGGAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NAALADL2_chr3_174854334_175815548	175670512	A A	AATTTATA others(378): Show AATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAA TGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATA TATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAA TTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATG TAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATA TTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATT TATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTA AATTTAATATATTTATATTAAATGTAAAATTAATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0059 a0009c0016t0002g0059	1	4	0.2500	385	c.189 others(406): Show c.1896+43150_1896+43151insATATTTATATTAAATTTATATTAA ATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAAT ATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAA ATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAAT GTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATAT ATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAAT TTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGT AAATTTAATATATTTATATTAAATGTAAAATTAATATATTTATATTAAAT GTAAATTTAAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEU4_chr2_241804193_241822413	241805865	C C	CCCCCCTC others(378): Show CCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCTCAG CCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACTCTCCC CTCTTAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	315	0.0032	385	c.-34 others(396): Show c.-3413_-3412insCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCT CCCTCCCTCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCT GCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCACCCTCCC T	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3327		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(378): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATA CTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAG TATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACA CTATACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0285 a0001c0002t0003g0285	1	118	0.0085	385	c.-75 others(404): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATAC AGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGT ATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTG CATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATA TATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATA TACGGTATACATACATACAGTATACATACATACAGTATACATACATACAG TATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTAC ATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(378): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATAATATATATAATATATATTATATATATAAAGTATATATA TAATATATATAATATATATTATATATATAAAGTATATATATAATATATAT AATATATATTATATATATAAAGTATATATATAATATATATAATATATATT ATATATATAAAGTATATATATAATATATAATATATATTATATATAAAGTA TATATATAATATATATTATATATAAAGTATATATATAATATATATTATAT ATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0274 a0002c0005t0002g0274	1	2	0.5000	385	c.730 others(402): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATACTTTATATATAATATATATTATATATATTATATATATACTTTATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(378): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTC CCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTC CCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp1 HG02040.hp2 others(3): Show HG00673.hp1 HG01891.hp1 HG02040.hp2 NA18960.hp2 NA19005.hp2 NA19070.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0002 a0004c0011t0002 a0001c0001t0002 a0004c0011t0002	a0001c0001t0002g0010 a0001c0001t0002g0214 a0004c0011t0002g0202 a0001c0001t0002g0010 a0001c0001t0002g0214 a0004c0011t0002g0202	6	211	0.0284	385	c.433 others(402): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(378): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTC CCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTTCCCCTTCCCCTTCCCT CTCCCCTTCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTC CCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0170 a0001c0001t0069g0170	1	206	0.0049	385	c.433 others(402): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGG AAGGGGAGAGGGAAGGGGAAGGGGAAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCTCCCG others(378): Show TCCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTC ACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCACACCCGCGAGC AGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTG ACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCA TCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGC AAGCAGGTCCACCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCT CCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	165	0.0061	385	c.361 others(404): Show c.361-15366_361-15365insGACCTGCTCGCCGGCGTGAGATGCTC CATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGT GGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGC CGGCGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCGGGGGGACCTGC TCGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTGA GATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTG GTCGGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841628	A A	AAGCAGGT others(378): Show AAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCT CCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGG CGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCACATCTCACAC CCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACCCGCGAGCAGGT CCCCCCTGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCA CGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCA CACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACGCCGGCGAGC AGGTCCACCCTGACCACAGCGCATCTCACGCCGGCG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	13	0.0769	385	c.361 others(404): Show c.361-15551_361-15550insCGCCGGCGTGAGATGCGCTGTGGTCA GGGTGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGGGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTG AGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTG GTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCGGGGGGAC CTGCCCGTGGGTGTGAGATGTGCCGTGGTCGGGGGGACCTGCTCGCCCGT GTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTC CATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952577	G G	GAGAGCAA others(378): Show GAGAGCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGAACA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGG GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp1 HG02055.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0101 a0001c0002t0008g0179 a0001c0001t0001g0101 a0001c0002t0008g0179	2	143	0.0140	385	c.360 others(404): Show c.360+26741_360+26742insGTCTGACCCCAGCCCCCCCACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAG CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGTTCTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGCTCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952698	A A	AGTCAGAG others(378): Show AGTCAGAGACACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGA CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	203	0.0049	385	c.360 others(404): Show c.360+26620_360+26621insCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTG ACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGC CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT GTCTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952834	C C	CAGACCAA others(378): Show CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGG GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0004 a0001c0001t0003 a0001c0003t0004	a0001c0001t0003g0199 a0001c0003t0004g0234 a0001c0001t0003g0199 a0001c0003t0004g0234	2	221	0.0090	385	c.360 others(404): Show c.360+26484_360+26485insCTCTGACCCCAGCCCCCCCACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAG CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GACACAGG others(378): Show GACACAGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCT CCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAAT GCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGG AAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAG GGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCC TGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGA GGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGA CAGAGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0020 a0020	a0020c0127 a0020c0127	a0020c0127t0006 a0020c0127t0006	a0020c0127t0006g0031 a0020c0127t0006g0031	1	4	0.2500	385	c.527 others(404): Show c.5271+8670_5271+8671insGACACAGAGTGAGGGGGGACAGAGGC CTGAGGGGGAAATGCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAG AGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGG ACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGG GGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGT GAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACA GAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAA CACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGCCTCCGGAGGGG GGAACACAG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(378): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG02056.hp1 others(7): Show HG00642.hp2 HG01123.hp1 HG02056.hp1 HG02559.hp1 HG02735.hp2 HG02818.hp1 HG02896.hp1 HG02976.hp1 NA18948.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0010t0014 a0001c0001t0004 a0001c0010t0014	a0001c0001t0004g0012 a0001c0001t0004g0168 a0001c0001t0004g0195 others(5): Show a0001c0001t0004g0012 a0001c0001t0004g0168 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0010t0014g0209	10	12	0.8333	385	c.189 others(404): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCTGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(378): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00609.hp1 others(25): Show HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00673.hp2 HG01496.hp1 HG02004.hp2 HG02080.hp1 HG02698.hp2 HG03492.hp1 HG03688.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18954.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp2 NA18983.hp2 NA18991.hp2 NA18992.hp1 NA19000.hp2 NA19011.hp2 NA19075.hp1 NA19084.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0028 others(18): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0008t0002g0139	28	30	0.9333	385	c.189 others(404): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(378): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(178): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG04184.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0002t0005 a0001c0004t0001 a0001c0006t0001 a0002c0003t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(128): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0003g0003 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0005g0037 a0001c0001t0006g0032 a0001c0001t0007g0176 a0001c0001t0008g0068 a0001c0001t0009g0099 a0001c0001t0011g0157 a0001c0001t0012g0093 a0001c0001t0013g0067 a0001c0002t0005g0014 a0001c0002t0005g0038 a0001c0002t0005g0039 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0006t0001g0155 a0002c0003t0005g0015 a0002c0003t0005g0040	181	183	0.9891	385	c.189 others(404): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(378): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACATCCTTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0162 a0001c0009t0001g0162	1	3	0.3333	385	c.189 others(404): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAA GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(378): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCTACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	3	0.3333	385	c.189 others(404): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTAGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(378): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGTGGCTGGCTGGGCGGGGGGCTGACCC CCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03471.hp1 HG03540.hp2 HG01071.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	3	5	0.6000	385	c.189 others(404): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCACCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(378): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02615.hp1 NA18962.hp1 HG00741.hp2 HG02615.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0166 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0166	3	5	0.6000	385	c.189 others(404): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCAGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(378): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGCAGGGGTGGCTGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01106.hp1 others(23): Show HG00639.hp2 HG00733.hp1 HG01106.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 NA18939.hp2 NA18941.hp2 NA18949.hp2 NA18961.hp1 NA18967.hp2 NA18973.hp2 NA18991.hp1 NA19055.hp2 NA19057.hp1 NA19066.hp1 NA19067.hp2 NA19078.hp1 NA19079.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 others(19): Show a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192	26	28	0.9286	385	c.189 others(404): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCAGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(378): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	3	0.3333	385	c.189 others(404): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645322	G G	GGGCAGAG others(378): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG TGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0201 a0001c0001t0001g0202	2	274	0.0073	385	c.189 others(404): Show c.1894-2288_1894-2287insTGGCCAGCCGCCCCGTCCGGGAGGGA GGGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCAGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CGCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCC ACCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PCDH11Y_chrY_4995296_5747224	5525199	T T	TGGGAGGA others(378): Show TGGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGGGCA GGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGG GGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAG GGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGA GGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGG AGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAG GAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGG GAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	113	0.0088	385	c.305 others(406): Show c.3052+23953_3052+23954insGGGAGGGGGAGGAGGAGGGGGAGG GGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGA GGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGG GAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGA GGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(378): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCC CCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTAC CTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCA CCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0294 a0002c0004t0003g0294	1	118	0.0085	385	c.35 others(396): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTC ACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCT CCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCC CCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTT C	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(378): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTATTCTGAAAAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01358.hp2 HG01515.hp1 others(3): Show HG00609.hp2 HG01358.hp2 HG01515.hp1 HG03017.hp2 HG03491.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0010 a0002c0024 a0001c0004 a0001c0010 a0002c0024	a0001c0004t0001 a0001c0004t0002 a0001c0010t0002 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0010t0002 a0002c0024t0001	a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0194 others(3): Show a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0194 a0001c0004t0002g0056 a0001c0010t0002g0193 a0002c0024t0001g0088	6	55	0.1091	385	c.129 others(402): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTTTTCAGAATAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PITPNM3_chr17_6446263_6561555	6561372	T T	TCCTCCTC others(378): Show TCCTCCTCCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCCTCCTAGTCCTC CTCCTCCTCCCCTCCTCCTTTTCCTCCTCCTCCTTCTCATTATCCTCCTT CTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTTTTCTCCTCCTT CTTCTCCTTTTCCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTT CCTCTTCTTCTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCT TCTCCTCTTCCTCCTCCTCCGCCCCCCTTCCTCCTTCTCCTCATCCTCCT TCCCTCCTCTTCCTCCTTTTCCTCCTTCTCCTCCCCTCTTCCTCCTCTTC CTCCTCCTCCTCCCCCTCCTCCTCCCCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0188 a0001c0001t0038g0188	1	168	0.0060	385	c.-49 others(396): Show c.-4967_-4966insGGAGGAAGAGGGGAGGAGGAGGGGGAGGAGGAGG AGGAAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGG GAAGGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGA GAAGAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGA GGAAGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGA AGAAGGAGGAGAAAAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATG AGAAGGAGGATAATGAGAAGGAGGAGGAGGAAAAGGAGGAGGGGAGGAGG AGGAGGACTAGGAGGAGGAAGAGGAGAAGGAGGAGGAAGAGGAGGAGGAG G	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4818		chr17	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(378): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0054 a0009c0054	a0009c0054t0001 a0009c0054t0001	a0009c0054t0001g0082 a0009c0054t0001g0082	1	41	0.0244	385	c.575 others(406): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTC CCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(378): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGA CCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02723.hp2 others(2): Show HG02451.hp1 HG02486.hp2 HG02723.hp2 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0003 a0001c0002t0001 a0001c0010t0003	a0001c0002t0001g0103 a0001c0002t0001g0171 a0001c0002t0001g0173 others(2): Show a0001c0002t0001g0103 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0010t0003g0021 a0001c0010t0003g0022	5	194	0.0258	385	c.173 others(402): Show c.1737+861_1737+862insCCCCGCTCACCCCCGGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCG GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCC GCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(378): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGA CCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGGCCCGCTCACACCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0165 a0001c0036t0001g0165	1	190	0.0053	385	c.173 others(402): Show c.1737+861_1737+862insCCCCGCTCACCCCCGGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCG GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCC GCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(378): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCACTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGACCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	190	0.0053	385	c.173 others(402): Show c.1737+861_1737+862insCCCCGCTCACCCCCGGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCACTCACCCCCGGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCT CACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGGCCCCGCTCAC ACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(378): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	190	0.0053	385	c.173 others(402): Show c.1737+861_1737+862insCCCCGCTCACCCCCGGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCT CACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(378): Show CCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGTGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0002 a0006c0019t0002	a0006c0019t0002g0028 a0006c0019t0002g0028	1	122	0.0082	385	c.387 others(404): Show c.387+26139_387+26140insCCTGCGGTCCTCCCGCTCATCCTCCC GGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCG GTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGTGGTCCTCCCGCTCATC CTCCCGGCCCCCTCGCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTCG CTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGC TCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCC CCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCT CCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCC GGCCCCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(378): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCCGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02723.hp1 HG01243.hp1 HG02145.hp2 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0030 a0001c0001 a0001c0004 a0002c0030	a0001c0001t0012 a0001c0004t0007 a0002c0030t0047 a0001c0001t0012 a0001c0004t0007 a0002c0030t0047	a0001c0001t0012g0041 a0001c0004t0007g0071 a0002c0030t0047g0206 a0001c0001t0012g0041 a0001c0004t0007g0071 a0002c0030t0047g0206	3	124	0.0242	385	c.387 others(404): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCCGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(378): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp1 NA20300.hp1 HG02280.hp1 HG02717.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0001t0014 a0001c0004t0010 a0001c0001t0011 a0001c0001t0014 a0001c0004t0010	a0001c0001t0011g0022 a0001c0001t0014g0069 a0001c0004t0010g0130 a0001c0001t0011g0022 a0001c0001t0014g0069 a0001c0004t0010g0130	3	124	0.0242	385	c.387 others(404): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTAC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(378): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTTCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0067 a0001c0001t0082g0067	1	122	0.0082	385	c.387 others(404): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTAC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTTCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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