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
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(211): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	320	0.0031	218	c.-38 others(229): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(211): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	320	0.0031	218	c.-38 others(229): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(211): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	320	0.0031	218	c.-38 others(229): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
VSIG10L_chr19_51326541_51347139	51345864	T T	TGAACCCT others(211): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCCTATAGGCTGAGATGATGAGCTGAACCCTCCCTA TAGACTGAGATGATGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 NA20752.hp2 HG01255.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	452	0.0044	218	c.-37 others(229): Show c.-3741_-3740insTGCGCATCATCTCAGTCTATAGGGAGGGTTCAGC TCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTATA GGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGG TTCAGCGCATCATCTCAGCCTATAGGGAGGGTTC	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3726		chr19	TogoVar
VSIG10L_chr19_51326541_51347139	51345864	T T	TGAACCCT others(211): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTA GAGACTGAGATGATGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	452	0.0022	218	c.-37 others(229): Show c.-3741_-3740insTGCGCATCATCTCAGTCTCTAGGGAGGGTTCAGC GCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTATA GGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGG TTCAGCGCATCATCTCAGCCTATAGGGAGGGTTC	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3726		chr19	TogoVar
VSIG10L_chr19_51326541_51347139	51345864	T T	TGAACCCT others(211): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTA TAGACTGAGATGATGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(254): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01070.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0010 a0011 a0014 a0015 a0019	a0001c0001 a0001c0003 a0001c0012 others(14): Show a0001c0001 a0001c0003 a0001c0012 a0001c0026 a0002c0002 a0002c0004 a0003c0005 a0004c0006 a0004c0025 a0006c0008 a0007c0009 a0009c0011 a0010c0015 a0011c0014 a0014c0023 a0015c0024 a0019c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0012t0007 a0001c0026t0001 a0002c0002t0001 a0002c0004t0003 a0003c0005t0001 a0003c0005t0009 a0004c0006t0001 a0004c0006t0014 a0004c0025t0001 a0006c0008t0004 a0007c0009t0001 a0009c0011t0001 a0010c0015t0001 a0011c0014t0001 a0014c0023t0001 a0015c0024t0001 a0019c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 others(61): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0108 a0001c0001t0006g0022 a0001c0001t0010g0036 a0001c0001t0016g0089 a0001c0003t0001g0003 a0001c0003t0001g0006 a0001c0003t0001g0034 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0080 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0002g0033 a0001c0003t0007g0079 a0001c0012t0007g0025 a0001c0026t0001g0097 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0030 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0062 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0004t0003g0005 a0002c0004t0003g0018 a0003c0005t0001g0013 a0003c0005t0001g0100 a0003c0005t0001g0101 a0003c0005t0001g0104 a0003c0005t0001g0105 a0003c0005t0009g0039 a0003c0005t0009g0103 a0004c0006t0001g0007 a0004c0006t0001g0032 a0004c0006t0014g0075 a0004c0025t0001g0074 a0006c0008t0004g0010 a0007c0009t0001g0024 a0009c0011t0001g0026 a0009c0011t0001g0071 a0010c0015t0001g0035 a0011c0014t0001g0031 a0014c0023t0001g0070 a0015c0024t0001g0076 a0019c0021t0001g0064	257	452	0.5686	218	c.-37 others(229): Show c.-3741_-3740insTGCGCATCATCTCAGTCTATAGGGAGGGTTCAGC GCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTATA GGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGG TTCAGCGCATCATCTCAGCCTATAGGGAGGGTTC	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3726		chr19	TogoVar
VSIG10L_chr19_51326541_51347139	51345864	T T	TGAACCCT others(211): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTA TAGACTGAGATGATGTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	452	0.0022	218	c.-37 others(229): Show c.-3741_-3740insTGCACATCATCTCAGTCTATAGGGAGGGTTCAGC GCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTATA GGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGG TTCAGCGCATCATCTCAGCCTATAGGGAGGGTTC	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3726		chr19	TogoVar
VSIG10L_chr19_51326541_51347139	51345864	T T	TGAACCCT others(211): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTA TAGGCTGAGATGATGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03490.hp2 HG03942.hp2 HG02451.hp1 HG03490.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0004 a0001c0001t0001g0028	3	452	0.0066	218	c.-37 others(229): Show c.-3741_-3740insTGCGCATCATCTCAGCCTATAGGGAGGGTTCAGC GCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTATA GGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGG TTCAGCGCATCATCTCAGCCTATAGGGAGGGTTC	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3726		chr19	TogoVar
WDR64_chr1_241647281_241807777	241674892	T T	TCCTCCCT others(211): Show TCCTCCCTCCCTCCTCCCTTCCTCCCTCCCTCCTCCCTCCCTCCCTCCCT CCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTC CCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCC TTCCTGCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	326	0.0031	218	c.483 others(233): Show c.483+145_483+146insCCTCCCTCCCTCCTCCCTTCCTCCCTCCCT CCTCCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGC CTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC TTCCTCCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR87_chr19_37879823_37911594	37881108	T T	TTATATAT others(211): Show TTATATATATATAATATATATATTATATATATATTATATATATATTATAT ATATATATATTATATATATATTATATATATATATAATATATATATTATAT ATATAATATATATATTATATATATATATTATATATATATTATATAATATA ATATTATTATATATTATATAATATATATATAATATATAATAATATATAAT ATATATAATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0009 a0003c0003t0003g0009	1	330	0.0030	218	c.38 others(229): Show c.3823_*3824insTAATATATATATTATATATATTATATATTATTAT ATATTATATATATATTATATAATATATAATAATATTATATTATATAATAT ATATATAATATATATATATAATATATATATTATATATATAATATATATAT TATATATATATATAATATATATATAATATATATATATATAATATATATAT AATATATATATAATATATATATTATATATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3714		chr19	TogoVar
WNT7A_chr3_13811258_13885071	13869020	A A	AAGTGAGA others(211): Show AAGTGAGAGAGAAAGAAAGGGAGAAAGAGAGAGAGAAAGCAAGTGAGAGA GAGAAAGAGGGAGAGAGAAAGAGAAAGAGGGAGAGAGAGGGAGGGAGGAA TGAAAGAAAGAAGGAAGGAAGGAAAGAAGGAAGGACGGAAAAGAGAGAAT GGAAGGAAGGAAGCAAGGAAGGAAGGGAGAAAGAGAGAGAGAAAGAAAAA GAGAGAGAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0211 a0001c0001t0064 a0001c0001t0211	a0001c0001t0064g0022 a0001c0001t0211g0159 a0001c0001t0064g0022 a0001c0001t0211g0159	2	354	0.0057	218	c.298 others(235): Show c.298+5926_298+5927insCTCTTTCTTTCTCTCTCTCTTTTTCTTT CTCTCTCTCTTTCTCCCTTCCTTCCTTGCTTCCTTCCTTCCATTCTCTCT TTTCCGTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCTTTCATTCCTCCCT CCCTCTCTCTCCCTCTTTCTCTTTCTCTCTCCCTCTTTCTCTCTCTCACT TGCTTTCTCTCTCTCTTTCTCCCTTTCTTTCTCTCTCACT	WNT7A	ENSG00000154764.6	transcript	ENST00000285018.5	protein_coding	2/3			chr3	TogoVar
ZBED3_chr5_77067072_77092285	77073101	T T	TAAAAGTA others(211): Show TAAAAGTACTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGTGCAGTCCGCCGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02615.hp1 HG02717.hp1 others(7): Show HG01496.hp2 HG02615.hp1 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03688.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0004 a0001c0001 a0003c0003 a0005c0004	a0001c0001t0064 a0001c0001t0165 a0001c0001t0166 others(5): Show a0001c0001t0064 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0003c0003t0062 a0003c0003t0157 a0005c0004t0160	a0001c0001t0064g0031 a0001c0001t0165g0127 a0001c0001t0166g0107 others(5): Show a0001c0001t0064g0031 a0001c0001t0165g0127 a0001c0001t0166g0107 a0001c0001t0167g0128 a0001c0001t0168g0129 a0003c0003t0062g0027 a0003c0003t0157g0226 a0005c0004t0160g0225	10	456	0.0219	218	c.40 others(229): Show c.4072_*4073insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACGGCGGACTGCACAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGTACTTTT	ZBED3	ENSG00000132846.6	transcript	ENST00000255198.3	protein_coding	3/3	4072		chr5	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(211): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGG GGAGAGGGAGAGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA CCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGA GACCGTGGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0084 a0001c0001t0008g0084	1	448	0.0022	218	c.-41 others(229): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGG AGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAG GGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(211): Show TATATATGTCCCATATCTATCTCATATATATATGTCCCATATATATCTAT CTCATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATAT ATATATCTCATATATATGTCCCATATATATATATCTCATATATATGTCCC ATATATATATCTCATATATATGTCCCATATATATATATCTCATATATATG TCCCATATATATATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	350	0.0029	218	c.-46 others(229): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATATGT CCCATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATAT ATATGTCCCATATATATATATCTCATATATATGTCCCATATATATATATC TCATATATATGTCCCATATATATATCTCATATATATGTCCCATATATATA TATCTCATATATATGTCCCATATATATATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370923	C C	CATATATG others(211): Show CATATATGTGATATATATCATATATATCAAATATATGATATATATCATAT ATGTGATATATATCACATATGTGATATATATCATATCACATATCATATGA CATATCATATCACATATCACATATCACATATCACATATCACATATCATAT GATATATATCACATGTGATATATAGCATATGTGATATATATCATATATAT CACATGTGATATATAGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01167.hp2 HG02148.hp2 others(1): Show HG01074.hp2 HG01167.hp2 HG02148.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0157 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0157	4	350	0.0114	218	c.-35 others(229): Show c.-3549_-3548insATATATGTGATATATATCATATATATCAAATATA TGATATATATCATATATGTGATATATATCACATATGTGATATATATCATA TCACATATCATATGACATATCATATCACATATCACATATCACATATCACA TATCACATATCATATGATATATATCACATGTGATATATAGCATATGTGAT ATATATCATATATATCACATGTGATATATAGCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3445		chr10	TogoVar
ZNF543_chr19_57315472_57335770	57319177	T T	TACATATA others(211): Show TACATATACATACATATACATACATATACATACATATATATACATATACA TACATATACATACATATACATACATATACATACATATACATACATATACA TACATATACATACATATATACATATACATACATATACATACATATATATA CATATACATACATATACATACATATACATACATATACATACATATATATA CATATATACATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01261.hp1 HG01346.hp1 others(7): Show HG01255.hp2 HG01261.hp1 HG01346.hp1 HG02257.hp1 HG03491.hp2 HG03669.hp2 HG03942.hp2 NA18977.hp2 NA18994.hp2 NA18998.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0002c0010 a0013c0020 a0002c0002 a0002c0010 a0013c0020	a0002c0002t0002 a0002c0010t0002 a0013c0020t0002 a0002c0002t0002 a0002c0010t0002 a0013c0020t0002	a0002c0002t0002g0001 a0002c0002t0002g0070 a0002c0010t0002g0001 others(1): Show a0002c0002t0002g0001 a0002c0002t0002g0070 a0002c0010t0002g0001 a0013c0020t0002g0011	10	460	0.0217	218	c.-16 others(229): Show c.-1677_-1676insACATATACATACATATACATACATATACATACAT ATATATACATATACATACATATACATACATATACATACATATACATACAT ATACATACATATACATACATATACATACATATATACATATACATACATAT ACATACATATATATACATATACATACATATACATACATATACATACATAT ACATACATATATATACATATATACATATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1294		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(211): Show CATATATACATATATATACATATACATACATATATATACATATATATACA TATACATACATATATATACATATATATACATATACATACATATATACATA TATATACATATACATACATATATATACATATATATACATATACATACATA TATATACATATATATACATATACATACATATATATACATATATATACATA TACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG01884.hp2 HG02970.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0010 a0007c0007t0010	a0007c0007t0010g0016 a0007c0007t0010g0016	2	460	0.0044	218	c.-13 others(229): Show c.-1395_-1394insATATATACATATATATACATATACATACATATAT ATACATATATATACATATACATACATATATATACATATATATACATATAC ATACATATATACATATATATACATATACATACATATATATACATATATAT ACATATACATACATATATATACATATATATACATATACATACATATATAT ACATATATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761922	T T	TCCTTCCT others(211): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA19003.hp1 NA18960.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0204 a0001c0001t0001g0207	2	394	0.0051	218	c.-31 others(229): Show c.-3174_-3173insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3032		chr19	TogoVar
ZNF710_chr15_89996324_90087191	90008437	T T	TACATATA others(211): Show TACATATATATATACATATATATATACATATATATATACATATATATATA CATATATATATACATATATATATACATATATATATACATATATATATATA CATATATATACATATATATATATACATATATATATACATATATATATATA CATATATATATATACATATATATATACATATATATATATACATATATATA TATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0271 a0001c0002t0005g0271	1	282	0.0036	218	c.-29 others(235): Show c.-29+6824_-29+6825insCATATATATATACATATATATATACATA TATATATACATATATATATACATATATATATACATATATATATACATATA TATATACATATATATATATACATATATATACATATATATATATACATATA TATATACATATATATATATACATATATATATATACATATATATATACATA TATATATATACATATATATATATACATATATATATATACA	ZNF710	ENSG00000140548.10	transcript	ENST00000268154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF787_chr19_56082366_56126295	56105981	T T	TTCCCCCC others(211): Show TTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCATTCCCCCCT CCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAGT CACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCA TTCCCCCCTCCGCGCCCACGACAGTCACCGCGCATTCCGCCCTCCGCGCC CACGGCAGTCACCGCGCAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02818.hp2 others(1): Show HG02145.hp2 HG02451.hp2 HG02818.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0003t0060 a0002c0006t0062 others(1): Show a0002c0003t0001 a0002c0003t0060 a0002c0006t0062 a0002c0006t0069	a0002c0003t0001g0314 a0002c0003t0060g0294 a0002c0006t0062g0111 others(1): Show a0002c0003t0001g0314 a0002c0003t0060g0294 a0002c0006t0062g0111 a0002c0006t0069g0116	4	410	0.0098	218	c.-10 others(235): Show c.-10-2755_-10-2754insTTGCGCGGTGACTGCCGTGGGCGCGGAG GGCGGAATGCGCGGTGACTGTCGTGGGCGCGGAGGGGGGAATGCGGAATG CGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTG GGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAA TGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGA	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF787_chr19_56082366_56126295	56105981	T T	TTCCCCCC others(211): Show TTCCCCCCTGCGCGCCCACGGCAGTCACCGCGCATTCCGCATTCCCCCCT CCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAGT CACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCA TTCCCCCCTCCGCGCCCACGACAGTCACCGCGCATTCCGCCCTCCGCGCC CACGGCAGTCACCGCGCAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02895.hp2 others(6): Show HG02055.hp2 HG02486.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0002c0006 a0005c0027 a0002c0003 a0002c0006 a0005c0027	a0002c0003t0001 a0002c0003t0016 a0002c0003t0033 others(4): Show a0002c0003t0001 a0002c0003t0016 a0002c0003t0033 a0002c0006t0001 a0002c0006t0002 a0002c0006t0007 a0005c0027t0001	a0002c0003t0001g0110 a0002c0003t0016g0091 a0002c0003t0016g0299 others(6): Show a0002c0003t0001g0110 a0002c0003t0016g0091 a0002c0003t0016g0299 a0002c0003t0033g0092 a0002c0006t0001g0113 a0002c0006t0002g0112 a0002c0006t0002g0114 a0002c0006t0007g0117 a0005c0027t0001g0115	9	410	0.0220	218	c.-10 others(235): Show c.-10-2755_-10-2754insTTGCGCGGTGACTGCCGTGGGCGCGGAG GGCGGAATGCGCGGTGACTGTCGTGGGCGCGGAGGGGGGAATGCGGAATG CGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTG GGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAA TGCGGAATGCGCGGTGACTGCCGTGGGCGCGCAGGGGGGA	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ABCD3_chr1_94413389_94523663	94520387	T T	TAGAAACA others(212): Show TAGAAACACTCTTATGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	362	0.0028	219	c.32 others(230): Show c.3258_*3259insAGAAACACTCTTATGCGTGGTAGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding		1725		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179331396	T T	TGGAGGGA others(212): Show TGGAGGGAGAGGAGGGGGAAGGGAGGGAGAGGAGGGGGAAGGGAGGGAGA GGAGGGGGAAGGGAGGGAGAGGAGGGGAAAGGGAGGGAGAGGAGGGGGAA GGGAGGGAGAGGAGGGGGAAGGGAGGGAGAGGGGGGGAAGGGAGGGAGAG GAGGGGGAAGGGAGGGAGAGGAGGGGGAAGGGAGGGAGAGGAGGGGGAAG GGAGGGAGAGGAGGGGGAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0104 a0002c0104	a0002c0104t0027 a0002c0104t0027	a0002c0104t0027g0221 a0002c0104t0027g0221	1	276	0.0036	219	c.534 others(238): Show c.534+12370_534+12371insCTTCCCCCTCCTCTCCCTCCCTTCCC CCTCCTCTCCCTCCCTTCCCCCTCCTCTCCCTCCCTTCCCCCTCCTCTCC CTCCCTTCCCCCCCTCTCCCTCCCTTCCCCCTCCTCTCCCTCCCTTCCCC CTCCTCTCCCTCCCTTTCCCCTCCTCTCCCTCCCTTCCCCCTCCTCTCCC TCCCTTCCCCCTCCTCTCCCTCCCTTCCCCCTCCTCTCCCTCC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAP1_chr7_892900_959680	902455	C C	CCTCAAAA others(212): Show CCTCAAAAAAAAAAAAAAAAAAATGCCTGGGCGTGGTGGTGCGCGCCTAT AGTTCCAGCTACTTGGGAGGTTGGGAGGCTGAGGCGCGCGCCTATAGTTC CAGCTACTTGGGAGGTTGGGAGGCTGAGGCAAGAAAATCACTTGAACCCA GAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGG GCAACACAGCAAGACTCGAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	14	0.0714	219	c.648 others(236): Show c.648+1670_648+1671insATCGAGTCTTGCTGTGTTGCCCAGGCTG GAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCTGGGTTCA AGTGATTTTCTTGCCTCAGCCTCCCAACCTCCCAAGTAGCTGGAACTATA GGCGCGCGCCTCAGCCTCCCAACCTCCCAAGTAGCTGGAACTATAGGCGC GCACCACCACGCCCAGGCATTTTTTTTTTTTTTTTTTTGAG	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	6/10			chr7	TogoVar
ADGRD1_chr12_130948907_131146469	131098128	C C	CCTCCCAC others(212): Show CCTCCCACGGTGGCCGCTGTCTGGGCTGCCTCACCGCCTTCTCCCACGGT GGCCGCTGTCTGGGCCTCACCGCCTTCTCCCACGGTGGCCGCTGTCTGGG CCTCACCGCCTTCTCCCACGGTGGCCGCTGTCTGGGCCTCACCGCCTTCT CCCACGGTGGCCGCTGTCTGGGCCTCACCGCCTTCTCCCACGGTGGCCGC TGTCTGGGCCTCACCGCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01069.hp2 others(6): Show HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01258.hp1 HG01943.hp2 HG01981.hp2 HG02818.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0011 others(1): Show a0001c0001 a0001c0003 a0005c0011 a0005c0021	a0001c0001t0002 a0001c0001t0015 a0001c0003t0006 others(2): Show a0001c0001t0002 a0001c0001t0015 a0001c0003t0006 a0005c0011t0002 a0005c0021t0021	a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0171 others(6): Show a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0171 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0015g0097 a0001c0003t0006g0019 a0005c0011t0002g0110 a0005c0021t0021g0048	9	242	0.0372	219	c.167 others(238): Show c.1672-6698_1672-6697insACGGTGGCCGCTGTCTGGGCTGCCTC ACCGCCTTCTCCCACGGTGGCCGCTGTCTGGGCCTCACCGCCTTCTCCCA CGGTGGCCGCTGTCTGGGCCTCACCGCCTTCTCCCACGGTGGCCGCTGTC TGGGCCTCACCGCCTTCTCCCACGGTGGCCGCTGTCTGGGCCTCACCGCC TTCTCCCACGGTGGCCGCTGTCTGGGCCTCACCGCCTTCTCCC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131129443	T T	TGTGAGTG others(212): Show TGTGAGTGACAGGCCCGCCCTGCTGTCTGAGTGTGAGTGACAGGCCCGCC CTGCTGTCTGGGTGTGAGTGACAGCCCCCCCCTCCTGTCTGGGTGTGAGT GACAGGCCGGCCCTGCTGTCTGGGTGTGAGTGACAGGCCCGCCCTGCTGT CTGGGTGTGAGTAACAGCCCCGCCCTGCTCTCTGGGTGTGAATGACAGCC CCGCCCTGCTCTGGGTGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp1 HG01884.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0228 a0001c0001t0002g0235	2	242	0.0083	219	c.217 others(238): Show c.2176-2278_2176-2277insGTGACAGGCCCGCCCTGCTGTCTGAG TGTGAGTGACAGGCCCGCCCTGCTGTCTGGGTGTGAGTGACAGCCCCCCC CTCCTGTCTGGGTGTGAGTGACAGGCCGGCCCTGCTGTCTGGGTGTGAGT GACAGGCCCGCCCTGCTGTCTGGGTGTGAGTAACAGCCCCGCCCTGCTCT CTGGGTGTGAATGACAGCCCCGCCCTGCTCTGGGTGTGAGTGA	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(212): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0082 a0002c0002t0008g0082	1	218	0.0046	219	c.32- others(232): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(212): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGGA GAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGGGAGAGGGGGAG GGGAGGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGG GGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	356	0.0028	219	c.667 others(234): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCTCCCCCTCTCCCCCCTCC CCCCCCTCCCCTCCCCCTTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANO7_chr2_241183677_241230976	241218055	C C	CGCGCAGG others(212): Show CGCGCAGGGGCGGGAGCGCGGGGCGGGGCGGGGGCGCGCAGGGGCGGGGC GGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCG CGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGG GGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGG GGGGCAGCGGGGGCGCGCAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0018 a0018	a0018c0055 a0018c0055	a0018c0055t0003 a0018c0055t0003	a0018c0055t0003g0037 a0018c0055t0003g0037	1	396	0.0025	219	c.217 others(236): Show c.2178+165_2178+166insCGCAGGGGCGGGAGCGCGGGGCGGGGCG GGGGCGCGCAGGGGCGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGG GGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGC GCGTAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGG GGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGCGCGCAGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
APCDD1_chr18_10449635_10494949	10462540	C C	CCTTCCTT others(212): Show CCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTGTGACCCTCCCTTCCTCCCTTCCTTCCTTCCTGTGACCCTCCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTGTGACCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0104 a0001c0002t0003g0104	1	422	0.0024	219	c.59- others(234): Show c.59-5928_59-5927insTTCCTTCCTTCCTGTGACCCTCCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTCCCTTCCTTCC TTCCTGTGACCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTGTGACCCTCCCTTC	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(212): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	264	0.0038	219	c.102 others(236): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(212): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCTCCCACTCCCGCTCCCCTCTCCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCT CCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	264	0.0038	219	c.102 others(236): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCTCTCCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198309	G G	GGGGAGGG others(212): Show GGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGACGGGGAG GGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAGGGGGAGGG GGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGG GGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGTGAGGGGAGGG GAGGGGGAGGGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	216	0.0046	219	c.311 others(236): Show c.311-1321_311-1320insTCCCTCCTCCCCTCCCCCTCCCCTCCCC TCACCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTCCCCTCCCCG TCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTCCCCCTCCCC CTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTCCCCGT CCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASPG_chr14_104080700_104120582	104085475	C C	CGCCTCTC others(212): Show CGCCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCCCGCCCCCAG GTCCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGGGCAGACT CCACTCCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCGCCCCCACC CCGCCAGGCCCCGCCCCACCCCGCCATAACCCGCCCCGCCCCCCGCCAGG CCCCGCCCCGCCCCCGCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0015 a0001c0001t0036g0015	1	368	0.0027	219	c.-29 others(228): Show c.-296_-295insGCCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCC ACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCC TCCCGGGCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGG CCCCGCCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAACCCGCCCC GCCCCCCGCCAGGCCCCGCCCCGCCCCCGCCAG	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		224		chr14	TogoVar
B3GNTL1_chr17_82937149_83056770	82958796	T T	TGTGTGTG others(212): Show TGTGTGTGTGTGTGTATACTGTGTGGGGGTGTATGGTGTGTGTGTGTATA CTGTGTGGGGGTGTATGGTGTGTGTGTGTGTGTACACTGGGGGTGTATGG TGTGTGTGTGTGTGTACACTGGGGGTGTATGGTGTGTGTGTATACTGTGT GGGGGTGTATGGTGTGTGTGTATACTGTGTGGGGGTGTATGTGTGTGTGT GTACACTGTGGGGGTGTATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0194 a0001c0003t0014g0194	1	266	0.0038	219	c.681 others(236): Show c.681-1303_681-1302insCATACACCCCCACAGTGTACACACACAC ACATACACCCCCACACAGTATACACACACACCATACACCCCCACACAGTA TACACACACACCATACACCCCCAGTGTACACACACACACACACCATACAC CCCCAGTGTACACACACACACACACCATACACCCCCACACAGTATACACA CACACACCATACACCCCCACACAGTATACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(212): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGG AGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGA GGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03831.hp1 HG02132.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0064 a0001c0001t0002g0065	2	298	0.0067	219	c.51+ others(232): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCATCCCCCCTCTCCTTCCCCCTCCCCCTC CCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCL11A_chr2_60452194_60558654	60467461	G G	GGTGATGG others(212): Show GGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGG TGATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGATG GTACTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGT GGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGG TGATGGTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	262	0.0038	219	c.487 others(236): Show c.487+1270_487+1271insTACCACCACCACCACCATCACCACCACC ACCATTACCACCACCATCACTACCACCACCACCACCATCACCACCACCAC CATTACCACCACCATCACTACCACCACCACCATCACCAGTACCATCACCA TCACCATCACCACCAGTACCATCACCATCATCACCACCATCACCACCACC ACCATTACCACCACCATCACTACCACCACCACCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(212): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0262 a0001c0011t0001g0262	1	344	0.0029	219	c.84+ others(234): Show c.84+1392_84+1393insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BTAF1_chr10_91918770_92036437	92012233	C C	CCTCCTCC others(212): Show CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTC CCCTTCTCCCCTCCCCTCCCTTCCCCTCCTCCCCTCCCCTCCCCTCCCCT CCCCCTGTATCTCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	330	0.0030	219	c.431 others(236): Show c.4311+822_4311+823insTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCC CCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCCTCCCTTCCCCTCCTCCC CTCCCCTCCCCTCCCCTCCCCCTGTATCTCCTCCCCTCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C20orf96_chr20_265863_295750	279074	G G	GGGAGGGC others(212): Show GGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCG GGACGGAGGGTGGGAGGGAGGGAGGGATGGAGGGAGGGCGGGCGGGACGG AGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGAGGGACGGAGGTTGGGAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0311 a0001c0010t0001g0311	1	410	0.0024	219	c.465 others(232): Show c.465+97_465+98insGTCCCAACCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCG CCCTCCCTCCATCCCTCCCTCCCTCCCACCCTCCGTCCCGCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTC CGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145596	T T	TAATATAA others(212): Show TAATATAATTTATTATATTATATAATGACATATAATATAATTTATTATAT TATATAATGACATATAATATAATTTATTATATTATATAATGACATATAAT ATAATTTATTATATTATATAATGACATATAATATAATTTATTATATTATA TAATGACATATAATATAATTTATTATATTATATAATGATATATAATATAA TTTATTATATTATATAATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0054 a0002c0006t0002g0054	1	398	0.0025	219	c.39 others(230): Show c.3943_*3944insTCATTATATAATATAATAAATTATATTATATATC ATTATATAATATAATAAATTATATTATATGTCATTATATAATATAATAAA TTATATTATATGTCATTATATAATATAATAAATTATATTATATGTCATTA TATAATATAATAAATTATATTATATGTCATTATATAATATAATAAATTAT ATTATATGTCATTATATAATATAATAAATTATATT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3409		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32145596	T T	TAATATAA others(212): Show TAATATAATTTATTATATTATATAATGACATATAATATAATTTATTATAT TATATAATGACATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATTATATAATGATATATAATATAA TTTATTATATTATATAATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG03486.hp1 others(1): Show HG02451.hp1 HG02717.hp1 HG03486.hp1 HG06807.hp2	a0002 a0002	a0002c0006 a0002c0010 a0002c0006 a0002c0010	a0002c0006t0002 a0002c0010t0002 a0002c0006t0002 a0002c0010t0002	a0002c0006t0002g0009 a0002c0010t0002g0028 a0002c0006t0002g0009 a0002c0010t0002g0028	4	398	0.0101	219	c.39 others(230): Show c.3943_*3944insTCATTATATAATATAATAAATTATATTATATATC ATTATATAATATAATAAATTATATTATATATCATTATATAATATAATAAA TTATATTATATATCATTATATAATATAATAAATTATATTATATATCATTA TATAATATAATAAATTATATTATATGTCATTATATAATATAATAAATTAT ATTATATGTCATTATATAATATAATAAATTATATT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3409		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32145596	T T	TAATATAA others(212): Show TAATATAATTTATTATATTATATAATGACATATAATATAATTTATTATAT TATATAATGATATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATTATATAATGATATATAATATAA TTTATTATATTATATAATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03540.hp2 NA19030.hp1 HG02280.hp1 HG03540.hp2 NA19030.hp1	a0002 a0002	a0002c0006 a0002c0010 a0002c0006 a0002c0010	a0002c0006t0002 a0002c0010t0002 a0002c0006t0002 a0002c0010t0002	a0002c0006t0002g0009 a0002c0010t0002g0028 a0002c0006t0002g0009 a0002c0010t0002g0028	3	398	0.0075	219	c.39 others(230): Show c.3943_*3944insTCATTATATAATATAATAAATTATATTATATATC ATTATATAATATAATAAATTATATTATATATCATTATATAATATAATAAA TTATATTATATATCATTATATAATATAATAAATTATATTATATATCATTA TATAATATAATAAATTATATTATATATCATTATATAATATAATAAATTAT ATTATATGTCATTATATAATATAATAAATTATATT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3409		chr22	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(212): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 HG01109.hp2 others(18): Show HG00733.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01891.hp1 HG02074.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03490.hp1 HG03834.hp1 NA19065.hp2 NA19074.hp1	a0002 a0003 a0006 others(3): Show a0002 a0003 a0006 a0007 a0012 a0014	a0002c0006 a0002c0037 a0003c0003 others(4): Show a0002c0006 a0002c0037 a0003c0003 a0006c0008 a0007c0007 a0012c0014 a0014c0012	a0002c0006t0001 a0002c0006t0003 a0002c0037t0001 others(5): Show a0002c0006t0001 a0002c0006t0003 a0002c0037t0001 a0003c0003t0001 a0006c0008t0001 a0007c0007t0001 a0012c0014t0001 a0014c0012t0001	a0002c0006t0001g0019 a0002c0006t0001g0020 a0002c0006t0003g0022 others(18): Show a0002c0006t0001g0019 a0002c0006t0001g0020 a0002c0006t0003g0022 a0002c0006t0003g0023 a0002c0037t0001g0027 a0003c0003t0001g0041 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0174 a0003c0003t0001g0186 a0003c0003t0001g0196 a0003c0003t0001g0201 a0006c0008t0001g0159 a0006c0008t0001g0160 a0006c0008t0001g0161 a0007c0007t0001g0146 a0007c0007t0001g0147 a0012c0014t0001g0029 a0014c0012t0001g0234 a0014c0012t0001g0304 a0014c0012t0001g0305	21	326	0.0644	219	c.145 others(236): Show c.145-7382_145-7381insTGGGGGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(212): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAGGGGAG TGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGGGCAGG GAAGGGGAAGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0332 a0001c0002t0005g0332	1	340	0.0029	219	c.104 others(238): Show c.1045+2187_1045+2188insTCCTCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(212): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAGGGGAG TGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGGGCAGG GAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG01346.hp1 others(12): Show HG00099.hp1 HG01123.hp2 HG01346.hp1 HG01358.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG03239.hp1 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0003 a0001c0001t0017 a0001c0002t0003	a0001c0001t0017g0267 a0001c0002t0003g0017 a0001c0002t0003g0018 others(12): Show a0001c0001t0017g0267 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0287 a0001c0002t0003g0291 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305	15	340	0.0441	219	c.104 others(238): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(212): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19080.hp1 NA18998.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0298 a0001c0001t0002g0154 a0001c0001t0002g0298	2	410	0.0049	219	c.-22 others(236): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(212): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG02155.hp2 others(6): Show HG00609.hp2 HG00673.hp2 HG02155.hp2 HG02559.hp2 HG03492.hp1 HG03942.hp1 NA18999.hp1 NA19005.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0029 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0135 a0001c0001t0002g0150 a0001c0001t0002g0159 others(6): Show a0001c0001t0002g0135 a0001c0001t0002g0150 a0001c0001t0002g0159 a0001c0001t0002g0222 a0001c0001t0029g0136 a0001c0002t0001g0132 a0001c0002t0001g0361 a0001c0002t0002g0337 a0001c0002t0002g0343	9	410	0.0220	219	c.-22 others(236): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(212): Show AAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAA GAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	364	0.0028	219	c.234 others(236): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGGGGAA others(212): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGGAGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGG AAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	364	0.0028	219	c.234 others(236): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCTCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar

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