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
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGGT others(495): Show GTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGATGGTGATGTGATA ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGAT GGTGATGGTGATGGTGATGATGGTGGTGGTGATAATGGTGATGGTGATGA TGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTG ATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGA TGGTGATGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGGTG GTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02257.hp1 HG02970.hp2 HG01261.hp2 HG02257.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0009t0001 a0002c0002t0008 a0001c0001t0001 a0001c0009t0001 a0002c0002t0008	a0001c0001t0001g0098 a0001c0009t0001g0120 a0002c0002t0008g0095 a0001c0001t0001g0098 a0001c0009t0001g0120 a0002c0002t0008g0095	3	201	0.0149	502	c.-46 others(513): Show c.-4663_-4662insTGATGGTGGTGGTGGTGATAATGGTGATGGTGAT GATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGGTGATGATGGTGATGGTGATGGTGATGATGGTGGTGGTGATAA TGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGG TGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTG GTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGATGGTGATG GTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAAT GGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGG TGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RASA3_chr13_113972783_114137623	114033444	C C	CCCACAGC others(495): Show CCCACAGCACCCCCACACTGACACCATGCCCCACGGCACCCTCACACTTG ACACCACGTTCCACGGCACCCCCACACTTCATACCATGTTCCACGGCACC CCCACACTGACACCATGCCCCACGGCACCCCCACACTGACACCACGCCCC ACGGCACCCCCACACTGACACCACGCCCCACAGCACCCCCACACTTGACA CCACGTTCCACGGCACCCCCACACTTGACACCACGTTCCATGGCACCCCC ACACTGACAACACGCCCCACGGCACCCCCACACTTGATACCACGTTCCAC GGCACCCCCACACTGACACCACACCCCACAGCACCCCTACACTTGACACC ACGTTCCATGGCACCCCCACACTTCATACCATGTTCCACGGCACCCCCAC ACTGACACCACGCCCCACAGCACCCCCACACTGACACCATGCCCCACGGC ACCCTCACACTTGACACCACGTTCCACGGCACCCCCACACTTCATACCAT GTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp2 HG00639.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	19	0.1053	502	c.373 others(519): Show c.373-3558_373-3557insAACATGGTATGAAGTGTGGGGGTGCCGT GGAACGTGGTGTCAAGTGTGAGGGTGCCGTGGGGCATGGTGTCAGTGTGG GGGTGCTGTGGGGCGTGGTGTCAGTGTGGGGGTGCCGTGGAACATGGTAT GAAGTGTGGGGGTGCCATGGAACGTGGTGTCAAGTGTAGGGGTGCTGTGG GGTGTGGTGTCAGTGTGGGGGTGCCGTGGAACGTGGTATCAAGTGTGGGG GTGCCGTGGGGCGTGTTGTCAGTGTGGGGGTGCCATGGAACGTGGTGTCA AGTGTGGGGGTGCCGTGGAACGTGGTGTCAAGTGTGGGGGTGCTGTGGGG CGTGGTGTCAGTGTGGGGGTGCCGTGGGGCGTGGTGTCAGTGTGGGGGTG CCGTGGGGCATGGTGTCAGTGTGGGGGTGCCGTGGAACATGGTATGAAGT GTGGGGGTGCCGTGGAACGTGGTGTCAAGTGTGAGGGTGCCGTGGGGCAT GGTGTCAGTGTGGGGGTGCTGTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	4/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099629	C C	CGTAGCCC others(495): Show CGTAGCCCCCCACAGCCCCCCACAGCCCCCACAGCCCCCACAGCAGCCCC CCCACATCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCGTAGCCCCCAC AGCCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCAG CCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCC CCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACA GCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCGTAGCC CCCACCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCC ACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACA GCAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGC CCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCCC CCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	58	0.0172	502	c.56- others(519): Show c.56-25793_56-25792insTGGGGGGGCTGCTGTGGGGGCTGTGGGG GGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGC TGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCT GTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGG GGCTGTGGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGCTGTGGGGGC TGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTG GGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGG GGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCT GTGGGGGGGCTGCTGTGGGGGGGCTGTGGGGGCTACGGGGGGCTGCTGTG GGGGCTGTGGGGGGGCTGATGTGGGGGGGCTGCTGTGGGGGCTGTGGGGG CTGTGGGGGGCTGTGGGGGGCTAC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RNF213_chr17_80255852_80403794	80281590	G G	GCCAACAC others(495): Show GCCAACACACACACCCCACTCACCCCACTCACACCCAACACACACACACA CCCCACTCACCCCCAACACACACACACCACTCACACCACTCACACACCCC CAACATACATATCCCACTCACCCCACTCACACACACCCAACACACACACA CACCCCACTCACCCCCAACACATACAAATCCCACTCACACCACTCACACA CACATACCCCACTCACACACACCCCAACACACACATACACCCCACTCACA CACATACCCCAACACACACACATATCCCACTCACACCACTCACCCCCAAC ATACACCCCACTCACCCCACTCACACACACCCAACACACACACACACCCC ACTCACCCCCAACACACACACATCCGACTCACACCACTCACACACCCCAA CACACATACCCCACTCACACACACACCCCAACACACACACACCCCTCTCA TCCCACTCACACATACCCAACACACACACAGCCCACTCACACGACTCACA CAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0102 a0002c0027t0001g0102	1	172	0.0058	502	c.262 others(519): Show c.262-6213_262-6212insCCCCACTCACCCCACTCACACCCAACAC ACACACACACCCCACTCACCCCCAACACACACACACCACTCACACCACTC ACACACCCCCAACATACATATCCCACTCACCCCACTCACACACACCCAAC ACACACACACACCCCACTCACCCCCAACACATACAAATCCCACTCACACC ACTCACACACACATACCCCACTCACACACACCCCAACACACACATACACC CCACTCACACACATACCCCAACACACACACATATCCCACTCACACCACTC ACCCCCAACATACACCCCACTCACCCCACTCACACACACCCAACACACAC ACACACCCCACTCACCCCCAACACACACACATCCGACTCACACCACTCAC ACACCCCAACACACATACCCCACTCACACACACACCCCAACACACACACA CCCCTCTCATCCCACTCACACATACCCAACACACACACAGCCCACTCACA CGACTCACACACCCAACACACACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	243002	A A	ATACCTTC others(495): Show ATACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTG ATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTTTCCTCTA CTGATTACCTTCCTCTACTGATTGCCCCTCCTCTACTGATTGCCCCTCCT CTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCC TCTATTGATTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTT CCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACC TTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTAC CCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGAC TACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGA TTACCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATT GAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00544.hp2 others(23): Show HG00140.hp1 HG00408.hp2 HG00544.hp2 HG01167.hp2 HG01255.hp1 HG01258.hp2 HG01358.hp1 HG01884.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02148.hp1 HG02155.hp2 HG02559.hp2 HG02698.hp2 HG02976.hp1 HG03017.hp2 HG03831.hp1 NA18522.hp1 NA18959.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19005.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0015 a0003c0005 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0026 a0001c0008t0001 a0001c0015t0007 a0003c0005t0005 a0005c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0040 others(23): Show a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0079 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0002g0029 a0001c0001t0002g0116 a0001c0001t0003g0096 a0001c0001t0005g0017 a0001c0001t0006g0105 a0001c0001t0009g0094 a0001c0001t0014g0025 a0001c0001t0034g0018 a0001c0002t0001g0123 a0001c0002t0003g0090 a0001c0002t0007g0112 a0001c0003t0001g0068 a0001c0003t0002g0059 a0001c0004t0001g0050 a0001c0004t0026g0013 a0001c0008t0001g0044 a0001c0015t0007g0026 a0003c0005t0005g0035 a0005c0009t0001g0054	26	122	0.2131	502	c.613 others(519): Show c.613+4108_613+4109insGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATA GAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAA TAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATC AATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAA TCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAATCAATAGAGGAGGGGCAATCAGTAGAGGAGGG GCAATCAGTAGAGGAAGGTAATCAGTAGAGGAAAGGTAATCAATAGAGGA AGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAG GAAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATGGT others(495): Show ATGATGGTGATGGTGATGGTAGAGATTATGGTGATGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTAGAGA TGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTAGAGATGATGGTGATGGTGAT GATGGAGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGG TGATGGTGATGGTAGAGATGATGGTGATGGATGGAGGTGGTGGTGATGGT GATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGACGG TGATGGTAGAGATGATAGTGATAGTGGTGGTGATGATGGTGGTGATGGTG GTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGGTGGTGGTGGTGGT GGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTGGTGA TGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG02809.hp1 others(2): Show HG02451.hp2 HG02723.hp1 HG02809.hp1 HG03491.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0012 a0001c0020 others(2): Show a0001c0003 a0001c0012 a0001c0020 a0001c0034 a0001c0071	a0001c0003t0001 a0001c0012t0003 a0001c0020t0064 others(2): Show a0001c0003t0001 a0001c0012t0003 a0001c0020t0064 a0001c0034t0004 a0001c0071t0088	a0001c0003t0001g0186 a0001c0012t0003g0192 a0001c0020t0064g0193 others(2): Show a0001c0003t0001g0186 a0001c0012t0003g0192 a0001c0020t0064g0193 a0001c0034t0004g0191 a0001c0071t0088g0035	5	12	0.4167	502	c.349 others(519): Show c.349-7103_349-7102insATGGTGATGGTAGAGATTATGGTGATGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATG GTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAGAGATGA TGGTGATGGTGATGATGGAGGTGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGGTGATGGTGATGGTAGAGATGATGGTGATGGATGGAGG TGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTG ATGATGGTGACGGTGATGGTAGAGATGATAGTGATAGTGGTGGTGATGAT GGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGG TGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTG GTGGTGGTGGTGATGGTGATGGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133668559	C C	CCCTCATC others(495): Show CCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCC CTCACCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCGCACCCTCCC TCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTC TCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTC CCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCC CTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCT TACCCTCCCTCTCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCTCTCT CCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCAC CCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCAT CCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0002 a0002c0034t0002	a0002c0034t0002g0062 a0002c0034t0002g0062	1	236	0.0042	502	c.249 others(521): Show c.2496-1690_2496-1689insAGGATGAGGGGAGAGGGAGGGTGAGG GAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGG GAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGG AGAGGGAGGGTGAGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGA GGGAGGGTAAGGGAGAGGGAAGGAGAGGGAGAGGGAGGGTAAGGGGAGAG GGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGG AAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAG GGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGCGGGGAGAGGGAGG GTGAGGGAGAGGGAGGATGAGGGTGAGGGAGAGGGAGGGCGAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGGTGAGGGAGGGGGAGGGTAAGGGGAGAGG GAGGGTGAGGGAGAGGGAGGATGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(495): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGGTTGAGTGAGGGGGG TGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGT TGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGG GTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGGTTGAGTGAGGGGGTTGGGGTGTTGGG TGA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	164	0.0061	502	c.464 others(515): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGG TGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGGTTGGGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGGTTGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGT GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGG GGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGTTGAGTGAGGGGGTTGGGG TGTTGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(495): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGG GTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGT GAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTT GAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGTTGGGTGA GGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGTGTTGGGTGAG GGGGTTGGGGTGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0271 a0006c0010t0007g0271	1	136	0.0074	502	c.464 others(515): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGCTCG GGGGGGGTTGAGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGT GAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTG AGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTG GGGTGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGTGTTGGGTGAGGGGGTTGGGGTGTTGGGTGAGGGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(495): Show TTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGG TGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTG GGG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	136	0.0074	502	c.464 others(515): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTG GGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGG TGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(495): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0028 a0028	a0028c0018 a0028c0018	a0028c0018t0071 a0028c0018t0071	a0028c0018t0071g0005 a0028c0018t0071g0005	1	63	0.0159	502	c.199 others(521): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(495): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC CGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACACAGGGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0073 a0011c0021t0073	a0011c0021t0073g0007 a0011c0021t0073g0007	1	62	0.0161	502	c.199 others(521): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCCGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(495): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0023 a0023	a0023c0083 a0023c0083	a0023c0083t0044 a0023c0083t0044	a0023c0083t0044g0004 a0023c0083t0044g0004	1	48	0.0208	502	c.199 others(521): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(495): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGG GCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0057 a0005c0057	a0005c0057t0013 a0005c0057t0013	a0005c0057t0013g0045 a0005c0057t0013g0045	1	67	0.0149	502	c.199 others(521): Show c.1994+2656_1994+2657insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCAGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGGGGGCCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCC AGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCATGCAG others(495): Show CCATGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0022 a0022	a0022c0094 a0022c0094	a0022c0094t0025 a0022c0094t0025	a0022c0094t0025g0049 a0022c0094t0025g0049	1	67	0.0149	502	c.199 others(521): Show c.1994+2656_1994+2657insCATGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGATCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGGGGGCCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(495): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGA GCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	40	0.0250	502	c.-30 others(521): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCG CTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGT others(495): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGC CAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGAG ATGGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0010	1	38	0.0263	502	c.280 others(521): Show c.280-44699_280-44698insCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTTGGGGGGCTGACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTG GCCAGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCC CCATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGCACGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGCACGGC TGGCCGGGCGGGGGGGCTGACCCCCC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1073173	G G	GAGCCCCC others(495): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACG GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTA TGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0090 a0001c0001t0007g0090	1	98	0.0102	502	c.224 others(519): Show c.2241+459_2241+460insGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCT GCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGT GTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCC CGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTC ACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGC TGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAG TGTGATGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(495): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCT GGAGTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGGGTT CAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCT CGCCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCAC TGTTGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCCGCCCACCTTG GCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGG AAAGTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCG TGATCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGC AAACAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCA AAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp2 HG01169.hp1 others(32): Show HG00673.hp2 HG01070.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG01952.hp2 HG02055.hp2 HG02080.hp2 HG02738.hp1 HG03098.hp1 HG03225.hp1 HG03471.hp2 HG03927.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18994.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19063.hp1 NA19078.hp1 NA19078.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0033 a0001c0001t0050 a0001c0001t0070 a0001c0001t0089 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0044 a0001c0002t0052 a0001c0002t0060 a0001c0002t0072	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0086 others(32): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0086 a0001c0001t0002g0021 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0090 a0001c0001t0003g0116 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0012g0024 a0001c0001t0017g0026 a0001c0001t0017g0088 a0001c0001t0023g0268 a0001c0001t0025g0100 a0001c0001t0033g0266 a0001c0001t0050g0046 a0001c0001t0070g0121 a0001c0001t0089g0299 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0015 a0001c0002t0001g0034 a0001c0002t0005g0028 a0001c0002t0005g0037 a0001c0002t0005g0044 a0001c0002t0006g0118 a0001c0002t0011g0267 a0001c0002t0044g0035 a0001c0002t0052g0017 a0001c0002t0060g0117 a0001c0002t0072g0115	35	171	0.2047	502	c.17+ others(519): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTG CCTTTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(495): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATTATATAAATA TAAATATATTATATATTATATAAATATAAATATATTATATATTATATATA AATATAAATATATTATATATTATATAAATATAAATATATTATATATTATA TATAAATATAAATATATTATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTAATATATTATATATAATATAAATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0290 a0002c0002t0002g0290	1	132	0.0076	502	c.-70 others(519): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATTTATATTATATATAATATAT TAATATATTTATATTATATATAATATATATAATATATTTATATTATATAT AATATATAATATATTTATATTTATATATAATATATAATATATTTATATTT ATATAATATATAATATATTTATATTTATATATAATATATAATATATTTAT ATTTATATAATATATAATATATTTATATTTATATAATATATAATATATTT ATATTTATATATAATATATATAATATATTTATATTTATATATAATATATA TAATATATTTATATTATATATAATATATATAATATATTTATATTTATGTA TAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(495): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATGATATACATTATATTTTATGATATATG ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATACATTATATTTTATGATATATGATATATATTATATTTTATGATA TATGATATATATTATATTTTATGATATATATTATATATTATATTTTATGA TATATAATATATATTATATTTTATGATATATAATATATATTATATTTTAT GATATATAATATATATTATATTTTATGATATATAATATTTTATATTTTAT GATATATAATATATTTTATATTTTATGATATATAATATATTTTATATTTT ATG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	152	0.0066	502	c.17 others(521): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAAAATATATTATATATCATAAAATATAAAATATTATATAT CATAAAATATAATATATATTATATATCATAAAATATAATATATATTATAT ATCATAAAATATAATATATATTATATATCATAAAATATAATATATAATAT ATATCATAAAATATAATATATATCATATATCATAAAATATAATATATATC ATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTATA TCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGTA TATCATATATCATAAAATATAATGTATATTATATATCATAAAATATAATG TATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(495): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGG GAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAG GGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGGGGG AGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCG GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	12	0.0833	502	c.34 others(511): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCC CTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCC TCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCC CCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCC CCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(495): Show TATTATATATTATATAACTATATATTATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATAATATAACTATATATT ATATATAATATATAATTATATATTATATAACTATATATTATATATAATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	149	0.0067	502	c.73 others(513): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATA ATATAACTATATATTATATATAATATATAATTATATATTATATAACTATA TATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
TBC1D22A_chr22_46757650_47180693	46772268	T T	TACACATA others(495): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACACACACATATATATGTATACACACACACACATATA TATGTATACACACACACACATATATATGTATACACACACACACATATATA TGTATACACACACATATATATGTATACACACATACATATATATGTATACA CACACATATATATGTATACACACACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	103	0.0097	502	c.62+ others(517): Show c.62+9421_62+9422insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACACACACATATATATGTA TACACACACACACATATATATGTATACACACACACACATATATATGTATA CACACACACACATATATATGTATACACACACATATATATGTATACACACA TACATATATATGTATACACACACATATATATGTATACACACACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	376848	C C	CTGTGCCC others(495): Show CTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCCGTGCCCCCACCCAGCC TCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACC CAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCCCTGTGCCCCC ACCCAGCCTCTCCCCCTCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	213	0.0047	502	c.-87 others(511): Show c.-879_-878insAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGG AGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGTA CAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACGGAGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGA GGCTGGGTGGGGCACA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		823		chr19	TogoVar
THEG_chr19_356747_381026	377475	C C	CCCCCACC others(495): Show CCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCC CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACC CAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCC CACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCT GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0161 a0004c0008t0001g0161	1	330	0.0030	502	c.-15 others(513): Show c.-1506_-1505insCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1450		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747653	G G	GCACTGGG others(495): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0264 a0001c0001t0025g0264	1	240	0.0042	502	c.189 others(517): Show c.189-672_189-671insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(495): Show TGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGAAGGCCGGGGTTA TGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGG GATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCC AGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGAAGGCCGGGGTTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	76	0.0132	502	c.46 others(513): Show c.4697_*4698insTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCC ATAACCCCGGCCTTCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCC AGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCT AATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCC TCCCTAATCCCTGCCTCCATAACCCCGGCCTTCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACC CTTGGTCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930923	C C	CAGGGGTT others(495): Show CAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGG CTGGGGGTTAGGAAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA GGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAAGGAG GCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	380	0.0026	502	c.46 others(513): Show c.4667_*4668insAGCCTCCTTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACC CCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCC CTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAA CCCCAGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CAGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGT CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCCAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4446		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(495): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGGTGATATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0095 a0001c0002t0028g0095	1	98	0.0102	502	c.41- others(519): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGGTGATATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSPAN8_chr12_71120096_71162999	71139972	C C	CCTTCATT others(495): Show CCTTCATTCATTCATTCATTCATTCATTCATACATTCAACATTACTGCCA TACCTCTATGTGTCAGATATTGTGCGAAATAATACATAAGACCTTTAGAA CCTACTAGGGAAGGTTAATAAGTAAGCAAATAGCTACAGTGGGAGTGGCC CCAGAAGCAAAGGGCAAGACAGGGGATGGGATTTTCAAACCAGGGCAGAA GTGAATAAGGTATTTGTATGAGTGAGGGTAGGAAAAGCTTTCCGGAAAGA CAACGTGGCAGTACAGTGCTGGTGTGTTTGGGAACTGAGAAGCCTTGGGT ATGGCAGGAGACCGGCAAAACTGTTTCCAGTAAATGATGGAAGATGAATC CAAGTGTGGGTTGGGGTAAAATCATAGGTGTTCTACATGCCATGCTAAAA AAAAAGTTTAAATGAATGAGATAATCAGAATTATCTCTTAGAGAGCATTG AGGAGGATAAATTGGGTTTGGATAATTCACAGGCATTCACTTAAAAAGTA CAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	284	0.0035	502	c.124 others(517): Show c.124-125_124-124insTTGTACTTTTTAAGTGAATGCCTGTGAATT ATCCAAACCCAATTTATCCTCCTCAATGCTCTCTAAGAGATAATTCTGAT TATCTCATTCATTTAAACTTTTTTTTTAGCATGGCATGTAGAACACCTAT GATTTTACCCCAACCCACACTTGGATTCATCTTCCATCATTTACTGGAAA CAGTTTTGCCGGTCTCCTGCCATACCCAAGGCTTCTCAGTTCCCAAACAC ACCAGCACTGTACTGCCACGTTGTCTTTCCGGAAAGCTTTTCCTACCCTC ACTCATACAAATACCTTATTCACTTCTGCCCTGGTTTGAAAATCCCATCC CCTGTCTTGCCCTTTGCTTCTGGGGCCACTCCCACTGTAGCTATTTGCTT ACTTATTAACCTTCCCTAGTAGGTTCTAAAGGTCTTATGTATTATTTCGC ACAATATCTGACACATAGAGGTATGGCAGTAATGTTGAATGTATGAATGA ATGAATGAATGAATGAATGAAG	TSPAN8	ENSG00000127324.9	transcript	ENST00000247829.8	protein_coding	3/8			chr12	TogoVar
TSPAN8_chr12_71120096_71162999	71139972	C C	CCTTCATT others(495): Show CCTTCATTCATTCATTCATTCATTCATTCATACATTCAACATTACTGCCA TACCTCTATGTGTCAGATATTGTGCGAAATAATACATAAGACCTTTAGAA CCTACTAGGGAAGGTTAATAAGTAAGCAAATAGCTACAGTGGGAGTGGCC CCAGAAGCAAAGGGCAAGACAGGGGATGGGATTTTCAAACCAGGGCAGAA GTGAATAAGGTATTTGTATGAGTGAGGGTAGGAAAAGCTTTCCGGAAAGA CAACGTGGCAGTACAGTGCTGGTGTGTTTGGGAACTGAGAAGCCTTGGGT ATGGCAGGAGACCGGCAAAACTGTTTCCAGTAAATGATGGAAGATGAATC CAAGTGTGGGTTGTGGTAAAATCATAGGTGTTCTACATGCCATGCTAAAA AAAAAGTTTAAATGAATGAGATAATCAGAATTATCTCTTAGAGAGCATTG AGGAGGATAAATTGGGTTTGGATAATTCACAGGCATTCACTTAAAAAGTA CAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp1 HG02897.hp2 others(9): Show HG01167.hp2 HG02896.hp1 HG02897.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18985.hp2 NA18991.hp1 NA18992.hp1 NA19011.hp1 NA19068.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0001 a0001c0001t0003 a0001c0006t0001	a0001c0001t0003g0027 a0001c0001t0003g0066 a0001c0006t0001g0007 others(2): Show a0001c0001t0003g0027 a0001c0001t0003g0066 a0001c0006t0001g0007 a0001c0006t0001g0042 a0001c0006t0001g0152	12	295	0.0407	502	c.124 others(517): Show c.124-125_124-124insTTGTACTTTTTAAGTGAATGCCTGTGAATT ATCCAAACCCAATTTATCCTCCTCAATGCTCTCTAAGAGATAATTCTGAT TATCTCATTCATTTAAACTTTTTTTTTAGCATGGCATGTAGAACACCTAT GATTTTACCACAACCCACACTTGGATTCATCTTCCATCATTTACTGGAAA CAGTTTTGCCGGTCTCCTGCCATACCCAAGGCTTCTCAGTTCCCAAACAC ACCAGCACTGTACTGCCACGTTGTCTTTCCGGAAAGCTTTTCCTACCCTC ACTCATACAAATACCTTATTCACTTCTGCCCTGGTTTGAAAATCCCATCC CCTGTCTTGCCCTTTGCTTCTGGGGCCACTCCCACTGTAGCTATTTGCTT ACTTATTAACCTTCCCTAGTAGGTTCTAAAGGTCTTATGTATTATTTCGC ACAATATCTGACACATAGAGGTATGGCAGTAATGTTGAATGTATGAATGA ATGAATGAATGAATGAATGAAG	TSPAN8	ENSG00000127324.9	transcript	ENST00000247829.8	protein_coding	3/8			chr12	TogoVar
TTN_chr2_178520989_178812423	178757157	A A	ACAGTAAG others(495): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATAC TGTACTTACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAGTAAG TAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAA GTG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0003 a0006c0013t0003	a0006c0013t0003g0180 a0006c0013t0003g0180	1	218	0.0046	502	c.106 others(521): Show c.10679-361_10679-360insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACT TAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTAC TTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178520989_178812423	178757157	A A	ACAGTAAG others(495): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATAC TGTACTTACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAGTAAG TAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAA GTG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0163 a0163	a0163c0166 a0163c0166	a0163c0166t0003 a0163c0166t0003	a0163c0166t0003g0049 a0163c0166t0003g0049	1	218	0.0046	502	c.106 others(521): Show c.10679-361_10679-360insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACT TAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTAC TTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(495): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATAC TGTACTTACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAGTAAG TAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAA GTG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0080 a0080	a0080c0043 a0080c0043	a0080c0043t0003 a0080c0043t0003	a0080c0043t0003g0243 a0080c0043t0003g0243	1	334	0.0030	502	c.103 others(523): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAAGTAA GTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCA CTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATT ACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAA GTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTA CTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATT ACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAA GTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTA CTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(495): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATAC TGTACTTACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAGTAAG TAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAA GTG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0078 a0078	a0078c0083 a0078c0083	a0078c0083t0003 a0078c0083t0003	a0078c0083t0003g0089 a0078c0083t0003g0089	1	334	0.0030	502	c.103 others(523): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAAGTAA GTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCA CTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATT ACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAA GTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTA CTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATT ACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAA GTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTA CTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870395	A A	ACACACAC others(495): Show ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCTACACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACAAACC ACACACACCACACACCCCACACACACCACACAAACCACACACACCACACA CCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	314	0.0032	502	c.35 others(521): Show c.35+21669_*35+21670insCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCTACACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACAAACCACACACACCACACACCCCACACACACCACACAAA CCACACACACCACACACCCCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(495): Show CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCAGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0229 a0001c0003t0003g0229	1	74	0.0135	502	c.218 others(519): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCA GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(495): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCC CCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTC TCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCT CCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0009 a0001c0001t0021g0009	1	2	0.5000	502	c.104 others(521): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCC CCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTC CTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCT CCCCTGTCTTCTCCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(495): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCTCCCTCTCCTCTCCCCTCCCCTCTCCTCCTCTCC CCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCT CTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTC CCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCC TCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCC CTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	33	0.0303	502	c.53- others(515): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCTCCCTCTCCTCTCCCCTCCCCTCTCCTC CTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCC CCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCC CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCC CCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCC CCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCC TTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR35_chr2_19905263_19995105	19985275	G G	GCCATCAT others(495): Show GCCATCATCCTCAAACCCTACCACAAGCAGCTCCAACCCAGGGCCATCAT CCTCAAACCCTACCACAAGCAGCTCCAACCCAGGGCCATCATCCTCAAAC CCTACACAAGCAGCTCCAACCCAGGGCCATCATCCTCAAACCCTACCACA AGCAGCTCCAACCCAGGGCCATCATCCTCAAACCCTACCACAAGCAGCTC CAACCCAGGGCCATCATCCTCAACCCTACCACAAGCAGCTCCAACCCAGG GCCATCATCCTCAAACCCTACTACCTGCAGCTCCAACCCAGGGTCATCGT TCTCCAACCCTACCACCTGCAGCTCCAGCCCAAGGCCATCATCCTCAAAC CCTACAACAAGCAGCTCCAACCCAGGGTTATCATTCTCAAACCCTACCAC AAGCAGCTCCAACCCAGGACCATCATCCTCAAACCCTACCACAAGCAGCT CCAACCCAGGGCCATCATCCTCAAACCCTACCACAAGCAGCTCCAACCCA GGA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	160	0.0063	502	c.143 others(519): Show c.143-2742_143-2741insTCCTGGGTTGGAGCTGCTTGTGGTAGGG TTTGAGGATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGGA TGATGGTCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGAATGATAACC CTGGGTTGGAGCTGCTTGTTGTAGGGTTTGAGGATGATGGCCTTGGGCTG GAGCTGCAGGTGGTAGGGTTGGAGAACGATGACCCTGGGTTGGAGCTGCA GGTAGTAGGGTTTGAGGATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAG GGTTGAGGATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGG ATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGGATGATGGC CCTGGGTTGGAGCTGCTTGTGTAGGGTTTGAGGATGATGGCCCTGGGTTG GAGCTGCTTGTGGTAGGGTTTGAGGATGATGGCCCTGGGTTGGAGCTGCT TGTGGTAGGGTTTGAGGATGATGG	WDR35	ENSG00000118965.16	transcript	ENST00000281405.9	protein_coding	2/26			chr2	TogoVar
WDR87_chr19_37879823_37911594	37881089	A A	AATATATA others(495): Show AATATATATATATTATATATATATATAATATATATAATATATATATAATA TATATATATTATATATATTATATATATTATATATATTATATATATATTAT ATATATATTATATATATAATATATATAATATATATATAATATATATTATA TATATAATATATATATATTATATATATAATATATATATTTAATATATATA TTATATATATAATATATATTATATATATAATATATATATTTAATATATAT TATATATATAATATATATATTATATATATAATATATATTTAATATATATA TTATATATATAATATATATATTATATATATATAATATATATATTTAATAT ATATATTATATATATAATATATATATTTAATATATAATATATATATAATA TATATATTATATATATAATATATATATAATATATATATTATATATATAAT ATATATATAATATATATATTATATATATAATATATATATTATATATATAT TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0032 a0003c0004t0001g0032	1	134	0.0075	502	c.38 others(513): Show c.3842_*3843insATAATATATATATAATATATATATTATATATATA ATATATATATTATATATATATTATATATATAATATATATATTATATATAT ATTATATATATAATATATATATTATATATATATTATATATTAAATATATA TATTATATATATAATATATATATTAAATATATATATTATATATATATAAT ATATATATTATATATATAATATATATATTAAATATATATTATATATATAA TATATATATTATATATATAATATATATTAAATATATATATTATATATATA ATATATATTATATATATAATATATATATTAAATATATATATTATATATAT AATATATATATATTATATATATAATATATATTATATATATATTATATATA TTATATATATAATATATATATAATATATATATAATATATATAATATATAT AATATATATAATATATATATATTATATATATATTATATATATTATATATA TATATAATATATATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3733		chr19	TogoVar
ZDHHC20_chr13_21367571_21464303	21377234	A A	ACTCTGCC others(495): Show ACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCC CGACATGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCTGCGTGA CCTCCACCCCTAGTGCCTGCGATCTGACTGCCCGACGTGACCTCCACCCC TAGTGCCTGCGATCTGACTCTGCCCGACATGACCTCCACCCCTAGTGCCT GCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTG ACTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCG ACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACC TCCACCCCTAGTGCCTGCGATCTGACTCTGCCCTGCGTGACCTCCACCCC TAGTGCCTGCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCT GCGATCTGACTCTGCCCGACATGACCTCCACCCCTAGTGCCTGCGATCTG ACT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0022 a0001c0003t0013g0022	1	189	0.0053	502	c.41 others(517): Show c.41-580_*41-579insAGTCAGATCGCAGGCACTAGGGGTGGAGGT CATGTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGG GCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGCAGGGCAGAGTC AGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCA GGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCACTAG GGGTGGAGGTCACGTCGGGCAGTCAGATCGCAGGCACTAGGGGTGGAGGT CACGTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCATGTCGG GCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGTCAG ATCGCAGGCACTAGGGGTGGAGGTCACGCAGGGCAGAGTCAGATCGCAGG CACTAGGGGTGGAGGTCATGTCGGGCAGAGTCAGATCACAGGCACTAGGG GTGGAGGTCACGTCGGGCAGAG	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12			chr13	TogoVar
ZFPM1_chr16_88448280_88542031	88501385	G G	GGGGGCTC others(495): Show GGGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGGGGGCCCTCCCGCAGGTACTGGTGATGGAGATAGCAGACATGGGTGCG TGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGC GTGGGCCCTGCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGGGGCCCTCCCACAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGTGGGCCCTCCCACAGGTGCTGGTGATGGAGATAGCAGACATGGGTGCG TGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGC GGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGC GGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTG CGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTG CGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00558.hp1 HG00621.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0045 a0001c0001 a0015c0045	a0001c0001t0004 a0015c0045t0007 a0001c0001t0004 a0015c0045t0007	a0001c0001t0004g0187 a0015c0045t0007g0084 a0001c0001t0004g0187 a0015c0045t0007g0084	2	207	0.0097	502	c.268 others(521): Show c.268+12235_268+12236insGCTCTCCCGCAGGTGCTGGTGATGAT GGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGTACTGGTGATGG AGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATG GAGATAGCAGACATGGGTGCGTGGGCCCTGCCGCAGGTGCTGGTGATGAT GGAGATAGCAGACATGGGTGCGGGGCCCTCCCACAGGTGCTGGTGATGAT GGAGATAGCAGACATGGGTGCGTGGGCCCTCCCACAGGTGCTGGTGATGG AGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATG GAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATG GAGATAGCGGGTGTGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGAT GGAGATAGCGGGTGTGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGAT GGAGATAGCGGGTGTGGGTGCGTGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(496): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0136 a0001c0004t0002g0136	1	209	0.0048	503	c.49- others(518): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABR_chr17_998519_1184981	1173013	T T	TCCACCCC others(496): Show TCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCA ACACATCACCTCAGTCAACGCAACACATCACCTCAGTCCACTCAACACAT CACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTC AGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTC CACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCA CCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCA CCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAAC ACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACA TCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCT CAGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	296	0.0034	503	c.61+ others(518): Show c.61+6653_61+6654insGCTGAGGTGATGGGGGGGGTGGGCTGAGGT GATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGG GCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGG TGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTG GACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGT GTTGCGTTGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGG GGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGGGGGGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS19_chr5_129455298_129743683	129578245	C C	CCTATATG others(496): Show CCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTA TATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACG TACATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATA TGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTA CGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATA TACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCATG TATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATA CGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCTA TATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATG TACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACA TATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp2 HG01243.hp1 HG02970.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0008 a0001c0001t0001 a0004c0008t0008	a0001c0001t0001g0018 a0004c0008t0008g0049 a0001c0001t0001g0018 a0004c0008t0008g0049	2	222	0.0090	503	c.137 others(524): Show c.1373-18118_1373-18117insGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGT ACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCT ATATGCATGTATATGTACGTATACGTACATATACTATATGCATGTATATG TACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACA TATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCA TGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTA TACGTACATATACCTATATGCATGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRA1_chr10_133082924_133136675	133111685	C C	CCTCCCTC others(496): Show CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTC CTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACA ACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGA CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0037 a0001c0026t0037	a0001c0026t0037g0014 a0001c0026t0037g0014	1	311	0.0032	503	c.401 others(520): Show c.401+8844_401+8845insTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACA GACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTC CCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCA GACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCA CAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCT AATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACAGACAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
AFAP1_chr4_7753714_7944861	7835712	G G	GGCCTCAA others(496): Show GGCCTCAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGTCTTGA GGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTACAGTTACCT GGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAGGTTACCTGGGTGGCT CTTGAATGGACTGCGGGCTGCCTTAAGGTTACTGGGTGGCTCTTGAATGG ACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGG CTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCGGCCTTA AGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAGGTTACC TGGGTGGCTCTTGAATGGACTGCGGGCGGCCTCAAGGTTACCTGGGTGGC TCTTGAATGGACTGTGGGCTGTCTTGAGGTTACCTGGGTGGCTCTTGAAT GGACTGCGGGCTGCCTTACAGTTACCTGGGTGGCTCTTGAATGGACTGTG GGCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0030 a0001c0001t0045g0030	1	237	0.0042	503	c.726 others(520): Show c.726+2811_726+2812insAGCCCACAGTCCATTCAAGAGCCACCCA GGTAACTGTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCT CAAGACAGCCCACAGTCCATTCAAGAGCCACCCAGGTAACCTTGAGGCCG CCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCCACAGT CCATTCAAGAGCCACCCAGGTAACCTTAAGGCCGCCCGCAGTCCATTCAA GAGCCACCCAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACC CAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGTAACC TTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCA GCCCACAGTCCATTCAAGAGCCACCCAGGTAACTGTAAGGCAGCCCGCAG TCCATTCAAGAGCCACCCAGGTAACCTCAAGACAGCCCACAGTCCATTCA AGAGCCACCCAGGTAACCTTGAGGC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(496): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGGAGGAGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGA GGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG AGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGAG GGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAG GAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGG GGGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0186 a0001c0001t0027g0186	1	183	0.0055	503	c.125 others(524): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTC CCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCC CCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCCCCCCCTCCTCCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTC CCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTC CCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTC CTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTC ACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar

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