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
ARMH3_chr10_101840599_102061173	101886349	A A	AAAAAAAC others(300): Show AAAAAAACAAAAATCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0108 a0001c0001t0006g0108	1	258	0.0039	307	c.186 others(326): Show c.1860+3062_1860+3063insGTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGGATTTTTGTTTTTT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	24/25			chr10	TogoVar
ASB16_chr17_44165704_44184084	44181119	C C	CGCCCGGC others(300): Show CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01891.hp1 HG01978.hp2 others(16): Show HG00673.hp1 HG01891.hp1 HG01978.hp2 HG01993.hp1 HG02622.hp2 HG02886.hp1 HG02976.hp1 HG03239.hp1 HG03453.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp2 NA18961.hp2 NA18973.hp1 NA18999.hp1 NA19004.hp1 NA19011.hp1 NA19080.hp1	a0003 a0012 a0003 a0012	a0003c0003 a0012c0019 a0003c0003 a0012c0019	a0003c0003t0001 a0012c0019t0001 a0003c0003t0001 a0012c0019t0001	a0003c0003t0001g0009 a0003c0003t0001g0016 a0003c0003t0001g0017 others(10): Show a0003c0003t0001g0009 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0089 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0095 a0003c0003t0001g0125 a0012c0019t0001g0088	19	156	0.1218	307	c.27 others(318): Show c.2729_*2730insGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCA GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCT	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding		2036		chr17	TogoVar
ATP10D_chr4_47480275_47598486	47494500	T T	TAAAGTTA others(300): Show TAAAGTTAGATTATCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGC GGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03704.hp1 HG02572.hp2 HG03704.hp1	a0003 a0037 a0003 a0037	a0003c0004 a0037c0060 a0003c0004 a0037c0060	a0003c0004t0005 a0037c0060t0001 a0003c0004t0005 a0037c0060t0001	a0003c0004t0005g0057 a0037c0060t0001g0308 a0003c0004t0005g0057 a0037c0060t0001g0308	2	257	0.0078	307	c.-38 others(324): Show c.-38+8993_-38+8994insTCACGCCTGTAGTCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTA ACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAGTTAGATTA	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
BPIFC_chr22_32408845_32469446	32423939	T T	TAAAACTC others(300): Show TAAAACTCCACAGCTTTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAAGAGGCGGAGCTTG CAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	410	0.0024	307	c.121 others(326): Show c.1218-4536_1218-4535insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTTCGCCCAAG CTGGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCCGCCTCTTGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCG CCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAAAGCTGTGGAGTTTT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BRF1_chr14_105204286_105306001	105236821	C C	CAACAACC others(300): Show CAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGT CGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGG AGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTA GTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCA GGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCG TAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCT CAGGAGCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	12	0.0833	307	c.694 others(324): Show c.694+4443_694+4444insTGCTCCTGAGGGTGCCACGGGGCTGCCA GGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCT CTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGC CAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGC CTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCT GTCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTG GCCTCTCTCTCCTGAGATGCTAGGTTGTT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BTD_chr3_15596745_15658714	15597524	C C	CTCATTTC others(300): Show CTCATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02970.hp2 HG01081.hp1 HG01884.hp1 HG02970.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0072 a0002c0005t0005 a0002c0005t0072	a0002c0005t0005g0045 a0002c0005t0072g0282 a0002c0005t0005g0045 a0002c0005t0072g0282	3	409	0.0073	307	c.-43 others(318): Show c.-4387_-4386insTCATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCA	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4220		chr3	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(300): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	194	0.0052	307	c.300 others(324): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(300): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGAA GTGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGG GGGGGGAAGTGGGAGGAAGGGGGAGGAAGGGGGGGGAAGGGGGGAAGTGG GAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGA GGAAGGGGGGAAGCGGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAA GGGGGGGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp2 NA18906.hp2 HG02970.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130	3	75	0.0400	307	c.207 others(324): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCC CCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCACTTCCCCCCTTCCCCCC CCTTCCTCCCCCTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCCCC TTCCTCCCCCTTCCTCCCCCTTCCTCCCACTTCCTCCCACTTCCCCCCCC TTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTC CTCCCATTTCCTCCCCCTTCCTCCCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CAP1_chr1_40035729_40077648	40059014	T T	TTGCAAAT others(300): Show TTGCAAATTCTAACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTAC AGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCG GGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02129.hp2 HG02135.hp2 others(32): Show HG02015.hp1 HG02129.hp2 HG02135.hp2 HG02280.hp1 HG02615.hp1 HG02738.hp1 HG03209.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03942.hp2 HG04204.hp2 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18960.hp2 NA18969.hp2 NA18970.hp1 NA18981.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19003.hp2 NA19009.hp1 NA19054.hp2 NA19059.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19080.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019	a0001c0001t0003g0020 a0001c0001t0003g0042 a0001c0001t0003g0179 others(27): Show a0001c0001t0003g0020 a0001c0001t0003g0042 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0008g0018 a0001c0001t0008g0220 a0001c0001t0012g0183 a0001c0001t0012g0192 a0001c0001t0019g0231	35	336	0.1042	307	c.-10 others(322): Show c.-10-305_-10-304insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTA CAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTGCAAATTCTAACTTTCT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CARD10_chr22_37485362_37524415	37491621	A A	AGGGGGAG others(300): Show AGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAGGAGACAGGGAAAGGAA GGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGGGGAGGGAGAGAGGTGG GAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGAGAAGGAGGGGGTAGG GAGAGGGGGGGCAGAGAAAGAGGAGGGGGGAGGGAGGAGGGAGAGAGGGG GAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGGGAGGGAGAGAGAGGGG GGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGAGAAGGGGGGAGGGAGAA GGGGGAGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0230 a0003c0005t0001g0230	1	272	0.0037	307	c.286 others(324): Show c.2864+133_2864+134insCCTCCCCCTTCTCCCTCCCCCCTTCTCC CTACCCCTTCTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCC CTCCTTCTCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCT CCCCCCTCCTCTTTCTCTGCCCCCCCTCTCCCTACCCCCTCCTTCTCAAC CCCTCTCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCC CTCCCCCCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCC CCTCCCCCTCTTTCCCTTCCCCCTCCCCC	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(300): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACACATGCACGCACACATGCACAC ACACATGCATACATATACACATGCACACAATGTACACACATGCACGCACA CATGCACA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	187	0.0053	307	c.380 others(324): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTG TGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGT GTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATG CATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGT ATATGTATGCATGTGTGTGTGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975123	C C	CCTCTGCT others(300): Show CCTCTGCTCCTGACCTCCAGCCATGTCAGAGGTCCACCCTGACCCTCTCT GCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCAC ATCTTTAGCCATGTCAGAGGTCCACCCTGACCCTCTGCTCCTCACCTGCA GCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCAT GTCAGAGGTCCACCCTGATCCTCTGCTCCTGACCTGCAGCCATGTCAGAG GTCCACCCTGATCCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACC CTGACCCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	254	0.0039	307	c.151 others(324): Show c.151+1533_151+1534insAGGGTCAGGGTGGACCTCTGACATGGCT AAAGATGTGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTC AGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCA GAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTGAGGAGCAGAGGG TCAGGGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGGATCAGGGT GGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGGACC TCTGACATGGCTGGAGGTCAGGAGCAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(300): Show TCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCAC CCTGGCCCTCTGCTCCTCACCTGCAGCCATGTCAGAGGTCCACCCTGATC CTCTGCTCCTCACCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTG CTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCTCA CCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCACATCTTT AGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCTCACCTGCAGCCATA TCAAAGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	165	0.0061	307	c.151 others(324): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTGAGGAGC AGAGGATCAGGGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGAGG GTCAGGGTGGACCTCTGACATGGCTGCAGGTGAGGAGCAGAGGATCAGGG TGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGAGGGTCAGGGTGGAC CTCTGACATGGCTGCAGGTGAGGAGCAGAGGATCAGGGTGGACCTCTGAC ATGGCTGCAGGTGAGGAGCAGAGGGCCAGGGTGGACCTCTGACATGGCTG CAGGTCAGGAGCAGAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBL_chr11_119201339_119313149	119222686	T T	TTTGTTTT others(300): Show TTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03453.hp2 HG02818.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0016 a0001c0004t0015g0017 a0001c0004t0015g0016 a0001c0004t0015g0017	2	361	0.0055	307	c.196 others(324): Show c.196-9753_196-9752insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTTGTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(300): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAACATATATATATTTATATAAATATATATATAACA TATATATATATTTATATAAATATATATATAACATATATATTTATATAAAT ATATATATAACATATATATATTTATATAAATATATATATAACATATATAT ATTTATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	234	0.0043	307	c.-29 others(324): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATATTTATATAAATATATATATAACATATATATTT ATATAAATATATATATAACATATATATATTTATATAAATATATATATAAC ATATATATATTTATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(300): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAACATATATATATTTATATAAATATATATATAACA TATATATATTTATATAAATATATATATAACATATATATATTTATATAAAT ATATATATAACATATATATATTTATATAAATATATATATAACATATATAT ATTTATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	3	236	0.0127	307	c.-29 others(324): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATTTATATAAATATATATATAACATATATATATTT ATATAAATATATATATAACATATATATATTTATATAAATATATATATAAC ATATATATATTTATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD163L1_chr12_7349960_7449153	7419114	C C	CAAAACAC others(300): Show CAAAACACTAGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	382	0.0026	307	c.767 others(326): Show c.767-12263_767-12262insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGCTAGTGTTTT	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(300): Show TTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTAT TTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAAT ACTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTATT TAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATA GTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTTTTA AATAAATA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	146	0.0068	307	c.125 others(324): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATAGTATT TAAATACTATTTAAATACTATTTAAATAGTATTTAAATACTATTTAAATA CTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATACTATTT AAATACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATAG TATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD226_chr18_69848274_69952873	69894547	A A	AGAGAAAG others(300): Show AGAGAAAGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGG GGAGGGGAGGGGAGGGAGGGGAGGGGAGGGAAGGGAGGGAAGGGAGGGAA GGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGG GAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGG AGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGGGAGGGGAAGGG GAGGGGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0243 a0001c0001t0110g0243	1	229	0.0044	307	c.727 others(324): Show c.727+1153_727+1154insCTCCCCTCCCCTTCCCCTCCCCTGCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTT CCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCC CTCCCTCCCCTCCCCTCCCCTCCTTTCTC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD300E_chr17_74604885_74628738	74624067	T T	TAAAACAC others(300): Show TAAAACACCCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCG GGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGCCTCAAAAAAAA AAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(142): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG01993.hp1 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp1 NA18989.hp2 NA18994.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0002c0009 a0002c0012 a0002c0015 a0003c0003 a0003c0005 a0007c0013	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(24): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0015 a0002c0002t0019 a0002c0002t0029 a0002c0002t0039 a0002c0002t0046 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0020 a0002c0004t0021 a0002c0004t0032 a0002c0004t0038 a0002c0009t0001 a0002c0012t0004 a0002c0015t0004 a0003c0003t0003 a0003c0005t0001 a0007c0013t0010	a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0053 others(62): Show a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0126 a0001c0001t0001g0164 a0001c0001t0001g0187 a0001c0001t0001g0189 a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0021 a0002c0002t0001g0047 a0002c0002t0001g0125 a0002c0002t0001g0140 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0162 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0002g0005 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0128 a0002c0002t0002g0132 a0002c0002t0002g0137 a0002c0002t0002g0145 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0005g0143 a0002c0002t0007g0138 a0002c0002t0009g0017 a0002c0002t0009g0186 a0002c0002t0012g0029 a0002c0002t0013g0043 a0002c0002t0015g0048 a0002c0002t0019g0142 a0002c0002t0029g0141 a0002c0002t0039g0154 a0002c0002t0046g0163 a0002c0004t0002g0183 a0002c0004t0003g0049 a0002c0004t0003g0135 a0002c0004t0004g0006 a0002c0004t0004g0139 a0002c0004t0004g0147 a0002c0004t0004g0161 a0002c0004t0005g0030 a0002c0004t0005g0051 a0002c0004t0005g0134 a0002c0004t0005g0169 a0002c0004t0020g0165 a0002c0004t0020g0166 a0002c0004t0021g0052 a0002c0004t0032g0159 a0002c0004t0038g0144 a0002c0009t0001g0050 a0002c0012t0004g0133 a0002c0015t0004g0136 a0003c0003t0003g0028 a0003c0005t0001g0131 a0007c0013t0010g0152	145	416	0.3486	307	c.-44 others(316): Show c.-447_-446insTTTTTTTTTTTTTTTTGAGGCGGAGTTTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGAC TACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCGAGGGTGTTTT	CD300E	ENSG00000186407.7	transcript	ENST00000392619.2	protein_coding		330		chr17	TogoVar
CD300E_chr17_74604885_74628738	74624067	T T	TAAAACAC others(300): Show TAAAACACCCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCG GGCATGGTGGCGTGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGCCTCAAAAAAAA AAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0055 a0002c0004t0004g0055	1	272	0.0037	307	c.-44 others(316): Show c.-447_-446insTTTTTTTTTTTTTTTTGAGGCGGAGTTTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGAC TACAGGCGCACGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCGAGGGTGTTTT	CD300E	ENSG00000186407.7	transcript	ENST00000392619.2	protein_coding		330		chr17	TogoVar
CDC14A_chr1_100347506_100525277	100473048	T T	TTCTTTTC others(300): Show TTCTTTTCCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAGGCTCCGCCCCC TGGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGCGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0291 a0001c0004t0007g0291	1	292	0.0034	307	c.977 others(324): Show c.977+4966_977+4967insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATG AGCCACCGCGCCCGGCCTCTTTTCCTTTT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100473048	T T	TTCTTTTC others(300): Show TTCTTTTCCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAGGCTCCGCCCCC TGGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02970.hp1 HG01884.hp2 HG02109.hp2 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0241 a0001c0005t0008g0283 a0001c0005t0008g0284 a0001c0005t0008g0241 a0001c0005t0008g0283 a0001c0005t0008g0284	3	294	0.0102	307	c.977 others(324): Show c.977+4966_977+4967insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATG AGCCACCGCGCCCGGCCTCTTTTCCTTTT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100473048	T T	TTCTTTTC others(300): Show TTCTTTTCCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAGGCTCCGCCCCC TGGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02630.hp2 others(4): Show HG01884.hp1 HG02280.hp1 HG02630.hp2 HG02976.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0011 a0001c0004 a0001c0007 a0001c0011	a0001c0004t0003 a0001c0007t0003 a0001c0011t0003 a0001c0004t0003 a0001c0007t0003 a0001c0011t0003	a0001c0004t0003g0064 a0001c0004t0003g0067 a0001c0004t0003g0121 others(4): Show a0001c0004t0003g0064 a0001c0004t0003g0067 a0001c0004t0003g0121 a0001c0004t0003g0166 a0001c0004t0003g0293 a0001c0007t0003g0277 a0001c0011t0003g0290	7	298	0.0235	307	c.977 others(324): Show c.977+4966_977+4967insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTG AGCCACCGCGCCCGGCCTCTTTTCCTTTT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH13_chr16_82621969_83805640	82794350	T T	TAAGAACA others(300): Show TAAGAACACTTTACACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0085 a0001c0004t0003g0085	1	100	0.0100	307	c.46- others(324): Show c.46-64000_46-63999insCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAACACTTTA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(300): Show TATAGTATTAAGAGGTGATGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0093 a0002c0031t0093	a0002c0031t0093g0309 a0002c0031t0093g0309	1	66	0.0152	307	c.-25 others(318): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CEP170B_chr14_104860268_104901747	104884909	T T	TGATGCCG others(300): Show TGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGA GGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGG AGGTGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGGTG GAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGT GGAGGCGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGG TGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGG GTGGAGGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02258.hp2 HG02896.hp1 others(8): Show HG01255.hp1 HG02258.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp1	a0001 a0008 a0001 a0008	a0001c0005 a0001c0008 a0008c0027 a0001c0005 a0001c0008 a0008c0027	a0001c0005t0003 a0001c0008t0003 a0008c0027t0003 a0001c0005t0003 a0001c0008t0003 a0008c0027t0003	a0001c0005t0003g0015 a0001c0005t0003g0238 a0001c0005t0003g0242 others(7): Show a0001c0005t0003g0015 a0001c0005t0003g0238 a0001c0005t0003g0242 a0001c0005t0003g0243 a0001c0005t0003g0244 a0001c0008t0003g0015 a0001c0008t0003g0245 a0001c0008t0003g0253 a0001c0008t0003g0254 a0008c0027t0003g0250	11	301	0.0365	307	c.177 others(324): Show c.1770+385_1770+386insCCTCGTGGGGAACGGGGGGGTGGAGGTG ATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGT GATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGGTGGAGG CGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTGGAG GCGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGGTGGA GGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTGG AGGCGATGCCGGGGGTGGCGAGTGAGAGC	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CFAP299_chr4_80330730_80968750	80799812	T T	TATATATA others(300): Show TATATATATATCATATAATATAATATATATTATATATATTTATATATTAT ATTATATAATATATAAATATATATTATATATATTATATTATATAATATAT AAATTATATATTATAATATAATATATAATATATATATTTATATATTATAT TATATAAATATATATATATATATATAAATATATATATAAATATATAATAT ATAAAATTATATATTTTTATAAATATATAATATATAAATATATTATATGA TATATATATTATATATTATATTATATAATATATAAATATATATATATCAT ATAATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	1	42	0.0238	307	c.334 others(326): Show c.334-70173_334-70172insATCATATAATATAATATATATTATAT ATATTTATATATTATATTATATAATATATAAATATATATTATATATATTA TATTATATAATATATAAATTATATATTATAATATAATATATAATATATAT ATTTATATATTATATTATATAAATATATATATATATATATAAATATATAT ATAAATATATAATATATAAAATTATATATTTTTATAAATATATAATATAT AAATATATTATATGATATATATATTATATATTATATTATATAATATATAA ATATATATATATCATATAATATAATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CHODL_chr21_18239833_18272370	18251520	T T	TAAATATT others(300): Show TAAATATTTTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTATTTATTTATTTT AATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0299 a0001c0001t0014g0299	1	383	0.0026	307	c.80- others(322): Show c.80-4988_80-4987insAATATTTTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTATTTATTTATTTTAATATATAA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRNA4_chr20_63338223_63366349	63354015	G G	GGTCCTAG others(300): Show GGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGT GATCCTTGTGGGGGCTGCAGTTCTGCAGGAAGCACTGTAGCCCTAGGGTG GGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGGG GGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGAGCTGTGGTCCTGGGG GGCTGTGGTCCTAGGGGGCTGTGGTCCTAAATGGGGCTGTGGTCCTGGGG GGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTGGGGGG GAGCTGCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0129 a0001c0002t0033g0129	1	156	0.0064	307	c.383 others(324): Show c.383+1959_383+1960insAGCAGCTCCCCCCCAGGACCACAGCCCC CTAGGACCACAGCCCCCCAGGACCACAGCCCCCCAGGACCACAGCCCCAT TTAGGACCACAGCCCCCTAGGACCACAGCCCCCCAGGACCACAGCTCCCC CAGGACCACAGCCCCCCAGGACCACAGGCCCCCAGGACCACATTCCCTGC CAGGACCACAGTCCTCCCAGGACTTCATCCCACCCTAGGGCTACAGTGCT TCCTGCAGAACTGCAGCCCCCACAAGGATCACAGTTCTTGCCTGACCACA GCCCCCTAGGACTACAACACCCCTAGGAC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63354015	G G	GGTCCTAG others(300): Show GGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGT GATCCTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGTG GGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAAGGAATGTGGTCCTGGG GGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCTGTGGTCCTGGGG GGCTGTGGTCCTGGGGGGCTGTGGTCCTAAATGGGGCTGTGGTCCTGGGG GGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTGGGGGG GAGCTGCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0073 a0001c0007t0030g0073	1	156	0.0064	307	c.383 others(324): Show c.383+1959_383+1960insAGCAGCTCCCCCCCAGGACCACAGCCCC CTAGGACCACAGCCCCCCAGGACCACAGCCCCCCAGGACCACAGCCCCAT TTAGGACCACAGCCCCCCAGGACCACAGCCCCCCAGGACCACAGCCCCCC CAGGACCACAGCCCCCCAGGACCACAGGCCCCCAGGACCACATTCCTTGC CAGGACCACAGTCCTCCCAGGACTTCATCCCACCCTAGGGCTACAGTGCC TCCTGCAGAACTGCAGCCCCCACAAGGATCACAGTTCTTGCCTGACCACA GCCCCCTAGGACTACAACACCCCTAGGAC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63354015	G G	GGTCCTAG others(300): Show GGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGT GATCCTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGTG GGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGGG GGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCTGTGGTCCTGGGG GGCTGTGGTCCTAGGGGGCTGTGGTCCTAAATGGGGCTGTGGTCCTGGGG GGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTGGGGGG GAGCTGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	156	0.0064	307	c.383 others(324): Show c.383+1959_383+1960insAGCAGCTCCCCCCCAGGACCACAGCCCC CTAGGACCACAGCCCCCCAGGACCACAGCCCCCCAGGACCACAGCCCCAT TTAGGACCACAGCCCCCTAGGACCACAGCCCCCCAGGACCACAGCCCCCC CAGGACCACAGCCCCCCAGGACCACAGGCCCCCAGGACCACATTCCCTGC CAGGACCACAGTCCTCCCAGGACTTCATCCCACCCTAGGGCTACAGTGCC TCCTGCAGAACTGCAGCCCCCACAAGGATCACAGTTCTTGCCTGACCACA GCCCCCTAGGACTACAACACCCCTAGGAC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63354095	G G	GGCACTGT others(300): Show GGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTG GCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGTGGTCCTG GGGGAGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTAA ATGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTGGCGGGCTGTGGTCCTAG GGGGCTGTGGTCCTGGGGGGGAGCTGCTGTCCTAGGGGTGTTGTAGTCCT AGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTC TGCAGGAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	72	0.0139	307	c.383 others(324): Show c.383+1879_383+1880insTTCCTGCAGAACTGCAGCCCCCACAAGG ATCACAGTTCTTGCCTGACCACAGCCCCCTAGGACTACAACACCCCTAGG ACAGCAGCTCCCCCCCAGGACCACAGCCCCCTAGGACCACAGCCCGCCAG GACCACAGCCCCCCAGGACCACAGCCCCATTTAGGACCACAGCCCCCTAG GACCACAGCCCCCCAGGACCACAGCTCCCCCAGGACCACAGCCCCCCAGG ACCACAGGCCCCCAGGACCACATTCCCTGCCAGGACCACAGTCCTCCCAG GACTTCATCCCACCCTAGGGCTACAGTGC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63354095	G G	GGCACTGT others(300): Show GGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTG GCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGTGGTCCTG GGGGAGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTAA ATGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAG GGGGCTGTGGTCCTGGGGGGGAGCTGCTGTCCTAGGGGTGTTGTAGTCCT AGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTC TGCAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(83): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp2 HG01192.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0016 a0002c0006 a0003c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031 a0001c0002t0001 a0001c0002t0004 a0001c0002t0032 a0001c0002t0034 a0001c0005t0001 a0001c0005t0004 a0001c0005t0019 a0001c0007t0007 a0001c0008t0001 a0001c0009t0007 a0001c0016t0001 a0002c0006t0003 a0002c0006t0004 a0003c0012t0003	a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0003g0002 others(66): Show a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0003g0002 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0043 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0008g0084 a0001c0001t0008g0121 a0001c0001t0017g0042 a0001c0001t0018g0024 a0001c0001t0020g0025 a0001c0001t0022g0041 a0001c0001t0023g0026 a0001c0001t0026g0126 a0001c0001t0031g0137 a0001c0002t0001g0001 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0004g0088 a0001c0002t0032g0138 a0001c0002t0034g0104 a0001c0005t0001g0100 a0001c0005t0001g0102 a0001c0005t0001g0106 a0001c0005t0004g0095 a0001c0005t0004g0101 a0001c0005t0019g0050 a0001c0007t0007g0074 a0001c0007t0007g0076 a0001c0008t0001g0010 a0001c0009t0007g0075 a0001c0016t0001g0079 a0002c0006t0003g0020 a0002c0006t0004g0130 a0003c0012t0003g0028	86	157	0.5478	307	c.383 others(324): Show c.383+1879_383+1880insTTCCTGCAGAACTGCAGCCCCCACAAGG ATCACAGTTCTTGCCTGACCACAGCCCCCTAGGACTACAACACCCCTAGG ACAGCAGCTCCCCCCCAGGACCACAGCCCCCTAGGACCACAGCCCCCCAG GACCACAGCCCCCCAGGACCACAGCCCCATTTAGGACCACAGCCCCCTAG GACCACAGCCCCCCAGGACCACAGCTCCCCCAGGACCACAGCCCCCCAGG ACCACAGGCCCCCAGGACCACATTCCCTGCCAGGACCACAGTCCTCCCAG GACTTCATCCCACCCTAGGGCTACAGTGC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63354210	T T	TGGGGGGC others(300): Show TGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTAAATGGGGCTGTGGTCC TGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTG GGGGGGAGCTGCTGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCA GGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTCTGCAGGAAGCACTGT AGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAA TGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCT GTGGTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	58	0.0172	307	c.383 others(324): Show c.383+1764_383+1765insGGGACCACAGCCCCCCCAGGACCACAGC CCCCCAGGACCACAGGCCCCCAGGACCACATTCCCTGCCAGGACCACAGT CCTCCCAGGACTTCATCCCACCCTAGGGCTACAGTGCTTCCTGCAGAACT GCAGCCCCCACAAGGATCACAGTTCTTGCCTGACCACAGCCCCCTAGGAC TACAACACCCCTAGGACAGCAGCTCCCCCCCAGGACCACAGCCCCCTAGG ACCACAGCCCCCCAGGACCACAGCCCCCCAGGACCACAGCCCCATTTAGG ACCACAGCCCCCTAGGACCACAGCCCCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63354210	T T	TGGGGGGC others(300): Show TGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTAAATGGGGCTGTGGTCC TGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTG GGGGGGAGCTGCTGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCA GGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGT AGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAA TGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCT GTGGTCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp1 HG01934.hp1 others(6): Show HG01106.hp1 HG01255.hp1 HG01934.hp1 HG02630.hp1 HG03139.hp1 HG03471.hp2 NA19043.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0011 others(2): Show a0001c0001 a0001c0007 a0001c0011 a0001c0013 a0002c0006	a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 others(4): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0007t0029 a0001c0011t0006 a0001c0013t0013 a0002c0006t0006	a0001c0001t0006g0089 a0001c0001t0006g0114 a0001c0001t0006g0136 others(6): Show a0001c0001t0006g0089 a0001c0001t0006g0114 a0001c0001t0006g0136 a0001c0001t0013g0082 a0001c0001t0016g0061 a0001c0007t0029g0072 a0001c0011t0006g0110 a0001c0013t0013g0115 a0002c0006t0006g0127	9	66	0.1364	307	c.383 others(324): Show c.383+1764_383+1765insGGGACCACAGCCCCCCCAGGACCACAGC CCCCCAGGACCACAGGCCCCCAGGACCACATTCCCTGCCAGGACCACAGT CCTCCCAGGACTTCATCCCACCCTAGGGCTACAGTGCCTCCTGCAGAACT GCAGCCCCCACAAGGATCACAGTTCTTGCCTGACCACAGCCCCCTAGGAC TACAACACCCCTAGGACAGCAGCTCCCCCCCAGGACCACAGCCCCCTAGG ACCACAGCCCCCCAGGACCACAGCCCCCCAGGACCACAGCCCCATTTAGG ACCACAGCCCCCTAGGACCACAGCCCCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63354271	A A	AGTCCTGG others(300): Show AGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTGGGGGGGAGCTG CTGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTG TGATCCTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGT GGGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGG GGGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCTGTGGTCCTGGG GGGCTGTGGTCCTAGGGGGCTGTGGTCCTAAATGGGGCTGTGGTCCTGGG GGGCTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG01884.hp2 others(22): Show HG01167.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02451.hp2 HG02622.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0003 a0002c0014 a0004c0015 others(1): Show a0001c0003 a0002c0014 a0004c0015 a0005c0010	a0001c0003t0002 a0001c0003t0010 a0001c0003t0025 others(3): Show a0001c0003t0002 a0001c0003t0010 a0001c0003t0025 a0002c0014t0002 a0004c0015t0002 a0005c0010t0007	a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0006 others(14): Show a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0009 a0001c0003t0002g0039 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0057 a0001c0003t0002g0064 a0001c0003t0002g0068 a0001c0003t0010g0055 a0001c0003t0010g0060 a0001c0003t0025g0059 a0002c0014t0002g0058 a0004c0015t0002g0063 a0005c0010t0007g0085	25	27	0.9259	307	c.383 others(324): Show c.383+1703_383+1704insCACAGCCCCCCAGGACCACAGCCCCATT TAGGACCACAGCCCCCTAGGACCACAGCCCCCCAGGACCACAGCCCCCCC AGGACCACAGCCCCCCAGGACCACAGGCCCCCAGGACCACATTCCCTGCC AGGACCACAGTCCTCCCAGGACTTCATCCCACCCTAGGGCTACAGTGCCT CCTGCAGAACTGCAGCCCCCACAAGGATCACAGTTCTTGCCTGACCACAG CCCCCTAGGACTACAACACCCCTAGGACAGCAGCTCCCCCCCAGGACCAC AGCCCCCTAGGACCACAGCCCCCCAGGAC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63354360	G G	GGCAAGAA others(300): Show GGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTCTGCAGGAAGCACTGT AGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAA TGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCT GTGGTCCCGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTAAATGGGGCT GTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGT GGTCCTGGGGGGGAGCTGCTGTCCTAGGGGTGTTGTAGTCCTAGGGGGCT GTGGTCAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0036 a0002c0006t0036	a0002c0006t0036g0116 a0002c0006t0036g0116	1	166	0.0060	307	c.383 others(324): Show c.383+1614_383+1615insTTGACCACAGCCCCCTAGGACTACAACA CCCCTAGGACAGCAGCTCCCCCCCAGGACCACAGCCCCCTAGGACCACAG CCCCCCAGGACCACAGCCCCCCAGGACCACAGCCCCATTTAGGACCACAG CCCCCTAGGACCACAGCCCCCCGGGACCACAGCCCCCCCAGGACCACAGC CCCCCAGGACCACAGGCCCCCAGGACCACATTCCCTGCCAGGACCACAGT CCTCCCAGGACTTCATCCCACCCTAGGGCTACAGTGCTTCCTGCAGAACT GCAGCCCCCACAAGGATCACAGTTCTTGC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(300): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAG GAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGA GGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0004 a0002c0028t0004	a0002c0028t0004g0338 a0002c0028t0004g0338	1	180	0.0056	307	c.85- others(324): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCT TCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTC CTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCC TTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGAAA others(300): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0003 a0001c0076t0003	a0001c0076t0003g0080 a0001c0076t0003g0080	1	294	0.0034	307	c.85- others(324): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A1_chr21_45976770_46010048	45988234	C C	CGGGAGTC others(300): Show CGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGTCGGGGC TCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCC AGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGA TGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGG AGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGG GGACGGCG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0061 a0003c0004t0001g0061	1	121	0.0083	307	c.804 others(322): Show c.804+583_804+584insAGTCCAGATGGAGGGGACGGCGGGGTCCAG ATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATG GAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGA GGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGG ACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGAC GGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCG GGGCTCCAGATGGAGGGGACGGCGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CP_chr3_149167497_149226829	149191550	T T	TAAGATCA others(300): Show TAAGATCAGACACATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03098.hp2 others(6): Show HG02622.hp2 HG02717.hp2 HG03098.hp2 HG03139.hp1 HG03486.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0014 a0002c0002 a0002c0006 others(1): Show a0001c0014 a0002c0002 a0002c0006 a0012c0028	a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0006t0002 a0012c0028t0001	a0001c0014t0001g0217 a0002c0002t0001g0293 a0002c0002t0002g0268 others(6): Show a0001c0014t0001g0217 a0002c0002t0001g0293 a0002c0002t0002g0268 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0005g0279 a0002c0006t0002g0269 a0002c0006t0002g0270 a0012c0028t0001g0336	9	362	0.0249	307	c.171 others(326): Show c.1714-3349_1714-3348insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGATGTGTCTGATCTT	CP	ENSG00000047457.14	transcript	ENST00000264613.11	protein_coding	9/18			chr3	TogoVar
CRY1_chr12_106986364_107098549	107026147	T T	TATATAAC others(300): Show TATATAACATATATAACATATATATGTTATATATGTTATATATGTAATAT ATATTATATATATATTACATATATATATAAAATATATATATATATTACAT ATATATATAAAATATATATATATATTACATATATATATAAAATATATATA TATATTACATATATATATAAAATATATATATATATTACATATATATATAA AATATATATATATATTACATATATATATAAAATATATATATATATTACAT ATATATATAAAATATATATATATATTACATATATATATAAAATATATATA TATATTAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	89	0.0112	307	c.159 others(324): Show c.159-3956_159-3955insGTAATATATATATATATTTTATATATAT ATGTAATATATATATATATTTTATATATATATGTAATATATATATATATT TTATATATATATGTAATATATATATATATTTTATATATATATGTAATATA TATATATATTTTATATATATATGTAATATATATATATATTTTATATATAT ATGTAATATATATATATATTTTATATATATATGTAATATATATATATATT TTATATATATATGTAATATATATATAATATATATTACATATATAACATAT ATAACATATATATGTTATATATGTTATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CRYBG1_chr6_106355717_106577017	106365679	T T	TATTTTTT others(300): Show TATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA21309.hp2 HG02622.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0009c0013t0009 a0001c0001t0001 a0009c0013t0009	a0001c0001t0001g0042 a0009c0013t0009g0049 a0001c0001t0001g0042 a0009c0013t0009g0049	2	238	0.0084	307	c.173 others(324): Show c.173+4608_173+4609insTTTTTTTTTTTTTTGAGACGGAGTCTCA CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCACCGCGCCCGGCCATTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(300): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGGAGGGAGGGAG GAGGAGGGAGGGGGGAGGGGGAGGGGGGGAGTGGAGGGGAGAGGAGGGGG AGGGGAGAGGGAGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0034 a0034	a0034c0055 a0034c0055	a0034c0055t0034 a0034c0055t0034	a0034c0055t0034g0047 a0034c0055t0034g0047	1	16	0.0625	307	c.416 others(328): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCT CCACTCCCCCCCTCCCCCTCCCCCCTCCCTCCTCCTCCCTCCCTCCCCCC TCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCACAT CCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNK2A1_chr20_467498_548790	524275	G G	GAGCTGGG others(300): Show GAGCTGGGTGTGGTGGTGCGTGCCTGTAGTCCCAGCTGCTCTTAGAGGCT GAGGCAGGGGAATCGCTTGAAACTCTCGAGAGGCGAAGGTTGTAGCAAGA TAACGCCATTGCATTCCAGCCTGGGAGACAGAGGGAGGCTCCTTCTCAAA AAAAAAAAAAAAAAAATTAATAAACAAATAAATAAAAGAGATACATCTAG GCCAGGTGTGGTGGCTCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCC AACACAGCGAAACCTCATCTCTACTTAAAAACAACAACAACAACAAAACA CAAAAATT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	314	0.0032	307	c.-11 others(326): Show c.-110+3351_-110+3657dupAATTTTTGTGTTTTGTTGTTGTTGTT GTTTTTAAGTAGAGATGAGGTTTCGCTGTGTTGGCCAGGCTGGTCTCAAA CTCCTGACCTCAAGTGAGCCACCACACCTGGCCTAGATGTATCTCTTTTA TTTATTTGTTTATTAATTTTTTTTTTTTTTTTTTTGAGAAGGAGCCTCCC TCTGTCTCCCAGGCTGGAATGCAATGGCGTTATCTTGCTACAACCTTCGC CTCTCGAGAGTTTCAAGCGATTCCCCTGCCTCAGCCTCTAAGAGCAGCTG GGACTACAGGCACGCACCACCACACCCAGCT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(300): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp1 HG03209.hp1 HG03579.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0267 a0004c0005t0002g0268 a0004c0005t0002g0267 a0004c0005t0002g0268	2	274	0.0073	307	c.-27 others(328): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNNBL1_chr20_37689030_37877118	37743951	T T	TGAACTTT others(300): Show TGAACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02293.hp1 NA18982.hp1 HG01943.hp2 HG02293.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008	3	264	0.0114	307	c.327 others(324): Show c.327-2508_327-2507insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGAACTTTTT	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(300): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATATTT ATATATTATATGTATATTATGTATACATAATATATTATATATTATATGTA TATTATGTATACATAATATTTATATATTATATGTATATTATGTATACATA ATATTTATATATTATATGTATATTATGTATACATAATATTTATATATTAT ATGTATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19010.hp1 HG02132.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0002 a0001c0001t0003g0012	2	86	0.0233	307	c.896 others(324): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAAATATTATGTATACATAATATACATATAATATATAATATA TTATGTATACATAATATACATATAATATATAAATATTATGTATACATAAT ATACATATAATATATAATATATTATGTATACATAATATACATATAATATA TAATATATTATGTATACATAATATACATATAATATATAATATATTATGTA TACATAATATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CXCL6_chr4_73831678_73843760	73842184	T T	TAATTATA others(300): Show TAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTTTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18955.hp2 NA18969.hp2 others(1): Show HG02155.hp1 NA18955.hp2 NA18969.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	422	0.0095	307	c.45 others(318): Show c.4543_*4544insAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTG	CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding		3425		chr4	TogoVar

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