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
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(368): Show CATATAGTTATATATTATATACATGTATATAACATATAGTTATATATTAT ATACATGTATATAACATATAGTTATATATTATATACATGTATATAACATA TAGTTATATATTATATACATGTATATAACATATAGTTATATATTATATAC ATGTATATAACATATAGTTATATATTATATACATGTATATAACATATAGT TATATATTATATACATGTATATAACATATAGTTATATATTATATACATGT ATATAACATATAGTTATATATTATATACATGTATATAACATATAGTTATG TATATTATATACATGTATATAACATAGTTATATACATATAACTATATGTA TATAATATATAGTACATGTATATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0209 a0001c0006t0025g0209	1	256	0.0039	375	c.183 others(394): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATAT ACATGTATATAATATATAACTATATGTTATATACATGTATATAATATATA ACTATATGTTATATACATGTATATAATATATAACTATATGTTATATACAT GTATATAATATATAACTATATGTTATATACATGTATATAATATATAACTA TATGTTATATACATGTATATAATATATAACTATATGTTATATACATGTAT ATAATATATAACTATATGTTATATACATGTATATAATATATAACTATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HERC6_chr4_88373852_88448097	88380374	T T	TATATATA others(368): Show TATATATATAATATATAAATATATATAATATATAAATATATATATAATAT ATAAATATATATAATATATAAATATATATATAATATATAAATATATATAA TATATAAATATATATATAATATATAAATATATATAATATATAAATATATA TATAATATATAAATATATATAATATATAAATATATATAATATATAAATAT ATATATAATATATAAATTTATATATTTATATAATATATAATATATAATAA AATAATATATATAATATATATATAAATTATATAATTATATAATATAATAT ATATAAAATAATATATATAAAATAATTATATATAATATATAAATATATAT AATATATAAATATATATATAATATAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18941.hp1 HG02132.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0067 a0001c0001t0001g0068	2	174	0.0115	375	c.199 others(392): Show c.199+1263_199+1264insATATATAAATATATATAATATATAAATA TATATATAATATATAAATATATATAATATATAAATATATATATAATATAT AAATATATATAATATATAAATATATATATAATATATAAATATATATAATA TATAAATATATATATAATATATAAATATATATAATATATAAATATATATA ATATATAAATATATATATAATATATAAATTTATATATTTATATAATATAT AATATATAATAAAATAATATATATAATATATATATAAATTATATAATTAT ATAATATAATATATATAAAATAATATATATAAAATAATTATATATAATAT ATAAATATATATAATATATAAATATATATATAATATAAATATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HIVEP1_chr6_12007312_12169999	12167688	T T	TATATACA others(368): Show TATATACATATATACATATATGTGTATAATATATACATATATACATATAT GTGTATAATATATACATATATACATATATGTGTATAATATATACATATAT ACATATATGTGTATAATATATACATATATACATATATGTGTATAATATAT ACATATATACATATATGTGTATAATATATACATATATACATATATGTGTA TAATATATACATATATACATATATGTGTATAATATATACATATATACATA TATGTGTATAATATATACATATATACATATATGTGTATAATATATACATA TATACATATATGTGTATAATATATACATATATACATATATGTGTATAATA TATACATATATACATATATGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0155 a0006c0009t0001g0155	1	344	0.0029	375	c.32 others(386): Show c.3227_*3228insATATACATATATACATATATGTGTATAATATATA CATATATACATATATGTGTATAATATATACATATATACATATATGTGTAT AATATATACATATATACATATATGTGTATAATATATACATATATACATAT ATGTGTATAATATATACATATATACATATATGTGTATAATATATACATAT ATACATATATGTGTATAATATATACATATATACATATATGTGTATAATAT ATACATATATACATATATGTGTATAATATATACATATATACATATATGTG TATAATATATACATATATACATATATGTGTATAATATATACATATATACA TATATGTGTATAATATATACATATATACATATATGTGTATA	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2690		chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41544699	T T	TCACCACC others(368): Show TCACCACCACCACCACTACCACCTGTACCACCACTGCTACCATCACCACC ACTACCACCACCATCACCACCACTACCACTACCTCTACCTCCACTGCTAC CATCACCACCACCACTACCACCTCTACCACCACCATCATCACCACCACTA CCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACC ACCATCACCACCACCACCACCATCACCACCTCTACCACCACCACCACCAC CACCACTACCACCTCTACCACCTCTACCACCACCACCACCATCACCTCTA CCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCATCACC ACCTCTACCACCACTGCTACCATCAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA20129.hp2 HG03195.hp1 NA20129.hp2	a0001 a0029 a0001 a0029	a0001c0001 a0029c0045 a0001c0001 a0029c0045	a0001c0001t0005 a0029c0045t0086 a0001c0001t0005 a0029c0045t0086	a0001c0001t0005g0055 a0029c0045t0086g0047 a0001c0001t0005g0055 a0029c0045t0086g0047	2	134	0.0149	375	c.520 others(396): Show c.5208-19790_5208-19789insGTGATGGTAGCAGTGGTGGTAGAG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGT GGTAGAGGTGATGGTGGTGGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGG TGGTGGTGGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGT GGTAGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGA TGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTGATGGTGGTGGTA GTGGTGGTGATGGTAGCAGTGGTGGTACAGGTGGTAGTGGTGGTGGTGGT G	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(368): Show TCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCAT CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA TCACCACCTCTACCACCACCATCACCACCACCACTATCACCACCTCTACC ACCACCATCACCACCACCACCACCATCACCACCTCTACCACCACCATCAC CACCACCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCA TCACCACCTCTACCACCACCATCACCACCACCACTATCACCACCTCTACC ACCACCATCACCACCACCACCACCACCTCTACCACCACCATCACTACTAC CACCACCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0009 a0003c0007t0009	a0003c0007t0009g0085 a0003c0007t0009g0085	1	134	0.0075	375	c.520 others(396): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGGTGG TGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTG GTGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGG TGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTA G	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
INPP5E_chr9_136423619_136444845	136431682	G G	GCCCCCCA others(368): Show GCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCA GGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCAC CTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTC ATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCT CCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCC GCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCA GGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCAC CTCTCCTCATCTCCCTCCATGCCCGC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	382	0.0026	375	c.154 others(392): Show c.1549+141_1549+142insGCGGGCATGGAGGGAGATGAGGAGAGGT GAGGGCCTGGGGGGCGGGCGTGGAGGGAGATGAGGAAAGGTGAGGGCCTG GGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGG GCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAG GGAGATGAGGAAAGGTGAGGGCCTGGGGGGGCGGGCGTGGCGGGAGATGA GGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATGAGGAGAGGT GAGGGCCTGGGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTG GGGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGGGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INSIG2_chr2_118083471_118115997	118094367	A A	AGATGATG others(368): Show AGATGATGATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTA GCTACTGAACCTTGCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGA GGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAAC CAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACT GAACCTTGCCAAAAGCAACCAGATGATGATGATGATGATGATGATGATGA TGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAA CCAGATGATGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCC AAAAGCAACCAGATGATGATGATGAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18971.hp1 NA19089.hp1 NA18946.hp2 NA18971.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0047 a0001c0001t0006g0203 a0001c0001t0005g0047 a0001c0001t0006g0203	3	440	0.0068	375	c.-13 others(394): Show c.-138-2030_-138-2029insATGATGATGATGATGGAGAGTTCTGT AGCTACTGAACCTTGCTGAAAGCAACCAGATGATGATGATGAGGAGGAGG AGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAA CCAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTAC TGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGATGATGATGATG ATGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCA ACCAGATGATGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGC CAAAAGCAACCAGATGATGATGATGATGATGATGATGATGATGATGATG	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(368): Show AATATATATATGATATATATATGAAATATATATATCATATATATATGAAA TATATATATCATATATATATGAAATATATATATCATATATATATGAAATA TATATATCATATATATATGAAATATATATATCATATATATATGAAATATA TATATCATATATATATGAAATATATATATCATATATATATGAAATATATA TATCATATATATATGAAATATATATATCATATATATATGAAATATATATA TCATATATATATGAAATATATATATGATATATGAAATATATATATGATAT ATGAAATATATATATGATATATGAAATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	344	0.0029	375	c.25- others(390): Show c.25-1970_25-1969insATGATATATATATGAAATATATATATCATA TATATATGAAATATATATATCATATATATATGAAATATATATATCATATA TATATGAAATATATATATCATATATATATGAAATATATATATCATATATA TATGAAATATATATATCATATATATATGAAATATATATATCATATATATA TGAAATATATATATCATATATATATGAAATATATATATCATATATATATG AAATATATATATCATATATATATGAAATATATATATGATATATGAAATAT ATATATGATATATGAAATATATATATGATATATGAAATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(368): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GGTGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTAGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGATGGTGATCATGGTGACGATCAT GATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGG TGGTGGTGGTAGTGGCAATGGTGACGATGATGGTGATCATGGTGATGATC ATGATGGTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGT GGTAGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(87): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01106.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0006 a0001c0013 others(34): Show a0001c0001 a0001c0006 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0032 a0001c0034 a0001c0040 a0001c0042 a0002c0005 a0002c0008 a0002c0010 a0002c0023 a0002c0026 a0002c0037 a0002c0047 a0003c0002 a0003c0003 a0003c0018 a0003c0020 a0003c0021 a0003c0038 a0003c0052 a0004c0007 a0004c0009 a0004c0011 a0004c0014 a0004c0024 a0004c0027 a0004c0033 a0004c0035 a0004c0036 a0004c0045 a0006c0041 a0007c0039 a0008c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0006t0003 a0001c0006t0025 a0001c0013t0001 a0001c0013t0016 a0001c0013t0036 a0001c0015t0001 a0001c0015t0002 a0001c0015t0028 a0001c0017t0027 a0001c0019t0001 a0001c0032t0037 a0001c0034t0001 a0001c0040t0002 a0001c0042t0023 a0002c0005t0001 a0002c0005t0010 a0002c0005t0011 a0002c0008t0018 a0002c0010t0009 a0002c0023t0001 a0002c0026t0026 a0002c0037t0001 a0002c0047t0022 a0003c0002t0001 a0003c0002t0002 a0003c0002t0020 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0012 a0003c0018t0002 a0003c0020t0003 a0003c0021t0001 a0003c0038t0001 a0003c0052t0001 a0004c0007t0001 a0004c0007t0002 a0004c0007t0012 a0004c0009t0002 a0004c0009t0010 a0004c0011t0001 a0004c0014t0001 a0004c0024t0002 a0004c0024t0006 a0004c0027t0001 a0004c0033t0002 a0004c0035t0005 a0004c0036t0001 a0004c0045t0001 a0006c0041t0029 a0007c0039t0002 a0008c0049t0001	a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 others(87): Show a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0021g0119 a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0149 a0001c0006t0025g0153 a0001c0013t0001g0094 a0001c0013t0001g0129 a0001c0013t0016g0155 a0001c0013t0036g0005 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0015t0028g0017 a0001c0017t0027g0012 a0001c0019t0001g0152 a0001c0032t0037g0124 a0001c0034t0001g0021 a0001c0040t0002g0025 a0001c0042t0023g0126 a0002c0005t0001g0016 a0002c0005t0001g0049 a0002c0005t0010g0061 a0002c0005t0010g0095 a0002c0005t0011g0096 a0002c0008t0018g0120 a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0023t0001g0058 a0002c0026t0026g0043 a0002c0037t0001g0139 a0002c0047t0022g0045 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0013 a0003c0002t0001g0034 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0123 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0002t0020g0093 a0003c0003t0001g0064 a0003c0003t0001g0071 a0003c0003t0001g0076 a0003c0003t0001g0131 a0003c0003t0002g0056 a0003c0003t0005g0072 a0003c0003t0012g0063 a0003c0018t0002g0028 a0003c0018t0002g0117 a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0038t0001g0024 a0003c0052t0001g0004 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0002g0026 a0004c0007t0002g0121 a0004c0007t0012g0067 a0004c0009t0002g0054 a0004c0009t0002g0075 a0004c0009t0002g0145 a0004c0009t0010g0055 a0004c0011t0001g0118 a0004c0011t0001g0134 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0024t0002g0151 a0004c0024t0006g0148 a0004c0027t0001g0066 a0004c0033t0002g0029 a0004c0035t0005g0020 a0004c0036t0001g0039 a0004c0045t0001g0090 a0006c0041t0029g0019 a0007c0039t0002g0133 a0008c0049t0001g0113	90	158	0.5696	375	c.222 others(394): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGGTGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTAGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGA TGGTGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGCAATGATCATGATGGTGGTGGTGGTAGTGGCAATGGTGACGAT GATGGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGA TAATAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(368): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GGTGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTAGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGATGGTGATCATGGTGACGATCAT GATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGG TGGTGGTGGTAGTGGCGATGGTGACGATGATGGTGATCATGGTGATGATC ATGATGGTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGT GGTAGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02165.hp2 NA19081.hp2 others(1): Show HG02027.hp2 HG02165.hp2 NA19081.hp2 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0003c0021 others(1): Show a0001c0001 a0003c0003 a0003c0021 a0004c0028	a0001c0001t0006 a0003c0003t0001 a0003c0021t0001 others(1): Show a0001c0001t0006 a0003c0003t0001 a0003c0021t0001 a0004c0028t0002	a0001c0001t0006g0006 a0003c0003t0001g0077 a0003c0021t0001g0032 others(1): Show a0001c0001t0006g0006 a0003c0003t0001g0077 a0003c0021t0001g0032 a0004c0028t0002g0065	4	158	0.0253	375	c.222 others(394): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGGTGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTAGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGA TGGTGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGCAATGATCATGATGGTGGTGGTGGTAGTGGCGATGGTGACGAT GATGGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGA TAATAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(368): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GGTGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGATGGTGATCATGGTGACGATCAT GATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGG TGGTGGTGGTAGTGGCAATGGTGACGATGATGGTGATCATGGTGATGATC ATGATGGTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGT GGTAGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03471.hp2 HG02895.hp2 HG03471.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0013 a0004c0014t0031 a0004c0014t0013 a0004c0014t0031	a0004c0014t0013g0147 a0004c0014t0031g0150 a0004c0014t0013g0147 a0004c0014t0031g0150	2	158	0.0127	375	c.222 others(394): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGGTGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTGGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGA TGGTGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGCAATGATCATGATGGTGGTGGTGGTAGTGGCAATGGTGACGAT GATGGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGA TAATAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(368): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GGTGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGATGGTGATCATGGTGACGATCAT GATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGG TGGTGGTGGTAGTGGCGATGGTGACGATGATGGTGATCATGGTGATGATC ATGATGGTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGT GGTAGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG01884.hp1 HG02895.hp1 HG02897.hp2 HG03540.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0014 a0002c0016t0006 a0002c0016t0014	a0002c0016t0006g0052 a0002c0016t0006g0099 a0002c0016t0014g0143 others(1): Show a0002c0016t0006g0052 a0002c0016t0006g0099 a0002c0016t0014g0143 a0002c0016t0014g0144	4	158	0.0253	375	c.222 others(394): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGGTGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTGGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGA TGGTGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGCAATGATCATGATGGTGGTGGTGGTAGTGGCGATGGTGACGAT GATGGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGA TAATAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(368): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GGTGGTAGTGGCAATGGTGATGATGATGGTGATCATGGTGGTGATCATGA TGGTGGTGGTAGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGATGGTGATCATGGTGACGATCAT GATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGG TGGTGGTGGTAGTGGCAATGGTGACGATGATGGTGATCATGGTGATGATC ATGATGGTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGT GGTAGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0106 a0002c0026t0001g0106	1	158	0.0063	375	c.222 others(394): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGGTGGTAGTGGCAATGGTGATGATGATG GTGATCATGGTGGTGATCATGATGGTGGTGGTAGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGA TGGTGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGCAATGATCATGATGGTGGTGGTGGTAGTGGCAATGGTGACGAT GATGGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGA TAATAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(368): Show TTAATGCATAAATATATGCATATATTTAATGCATAAATATATGCATATAT TTAATACATAAATATATGCATATATTTAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATACATAAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATACATAAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATACATAAATATATGCATATATTTAATACA TAAATATATGCATATATTTATATATAAAATATATACATATATGTATATAT ATAAAATATATACATATATGTATATATATAAAATATATACATATATGTAT ATATATAAAATATATACATATATGTA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	164	0.0061	375	c.211 others(396): Show c.2113-34249_2113-34248insTACATATATGTATATATTTTATAT ATATACATATATGTATATATTTTATATATATACATATATGTATATATTTT ATATATATACATATATGTATATATTTTATATATAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATT TATGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATT TATGTATTAAATATATGCATATATTAAATATATGCATATATTTATGTATT AAATATATGCATATATTTATGCATTAAATATATGCATATATTTATGCATT A	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149568	T T	TGTCCTCC others(368): Show TGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCAC AGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCT CACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCC ACACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCTC CTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCA CACACCAGACAGCTCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0197 a0002c0001t0001g0197	1	308	0.0033	375	c.67 others(386): Show c.6778_*6779insGTCCTCCTCACACACCACACAGCCCACACCCCTC TCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGC TCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCA CACACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCC TCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACA GCCCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCC ACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3977		chr1	TogoVar
LHPP_chr10_124456823_124619141	124610410	C C	CGGGTGAG others(368): Show CGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGT GAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGC GGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTG AGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCG GGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGTGGGTGTTGACGGAGCGG GTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAG GGTGAGGGTGCTGGTGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02735.hp2 HG02738.hp1 others(6): Show HG01192.hp1 HG02735.hp2 HG02738.hp1 HG03130.hp2 HG04204.hp1 NA18947.hp2 NA18954.hp1 NA18995.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0002c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0100 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0100 a0001c0001t0001g0128 a0001c0001t0001g0249 a0001c0001t0003g0101 a0001c0001t0003g0177 a0001c0001t0012g0027 a0002c0002t0001g0021	9	260	0.0346	375	c.717 others(392): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG AGGGTGCTGATGGAGCGGGTGAGGGTGTGGGTGTTGACGGAGCGGGTGAG GGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610410	C C	CGGGTGAG others(368): Show CGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGT GAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGC GGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTG AGGGTGCTGGTGGAGCGGGTGAGGGAGTGGGTGAGGGTGCTGGTGGAGCG GGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGTGGGTGTTGACGGAGCGG GTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAG GGTGAGGGTGCTGGTGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19081.hp2 NA18944.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0202 a0001c0001t0003g0182 a0001c0001t0003g0202	2	260	0.0077	375	c.717 others(392): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGAGTGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG AGGGTGCTGATGGAGCGGGTGAGGGTGTGGGTGTTGACGGAGCGGGTGAG GGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	858908	C C	CGGGTGTG others(368): Show CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGT GTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT CGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCACGGGAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0002 a0003c0009t0001g0003	2	294	0.0068	375	c.153 others(394): Show c.1530-4203_1530-4202insATCCCGTGACACCACTCACACCCATC CCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858964	C C	CAGTGGTG others(368): Show CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATG GGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0195 a0001c0003t0001g0195	1	294	0.0034	375	c.153 others(394): Show c.1530-4259_1530-4258insCACACCCATCCCGAGACACCACTCAC ACCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCC GAGACACCACTCACACCCATCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858964	C C	CAGTGGTG others(368): Show CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATG GGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG02040.hp1 others(6): Show HG00423.hp1 HG00609.hp1 HG02040.hp1 HG02165.hp2 NA18967.hp2 NA19002.hp2 NA19009.hp2 NA19077.hp2 NA19091.hp1	a0001 a0003 a0028 a0001 a0003 a0028	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0011 a0001c0072 a0003c0014 a0028c0053	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0011t0001 a0001c0072t0001 a0003c0014t0001 a0028c0053t0001	a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0003t0001g0180 others(6): Show a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0003t0001g0180 a0001c0008t0001g0023 a0001c0011t0001g0155 a0001c0011t0001g0158 a0001c0072t0001g0056 a0003c0014t0001g0014 a0028c0053t0001g0237	9	294	0.0306	375	c.153 others(394): Show c.1530-4259_1530-4258insCACACCCATCCCGAGACACCACTCAC ACCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCC GAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858964	C C	CAGTGGTG others(368): Show CAGTGGTGTCTTGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATG GGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0157 a0001c0011t0001g0157	1	294	0.0034	375	c.153 others(394): Show c.1530-4259_1530-4258insCACACCCATCCCGAGACACCACTCAC ACCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCC GAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCAAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859035	G G	GCGTGGTG others(368): Show GCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTC GGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGG ATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATG GGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTG TGAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	294	0.0034	375	c.153 others(394): Show c.1530-4330_1530-4329insGCACACCCGTCCCGAGACACCACTCA CACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACCCAT CCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCC GAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAG ACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGACAC CACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(368): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01952.hp2 HG02559.hp1 others(8): Show HG01255.hp2 HG01952.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02965.hp1 HG03195.hp2 HG03471.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0066 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0174	11	194	0.0567	375	c.71- others(388): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAN2B2_chr4_6570189_6628362	6579289	T T	TCACCACC others(368): Show TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCATCACCATCAC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	362	0.0028	375	c.391 others(390): Show c.391+802_391+803insCCATCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCATCACCATCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MGAT4C_chr12_85950667_86261391	86110304	A A	ATAGTCTA others(368): Show ATAGTCTATATATATATAGTCTATATATATAGTCTATATATATAGTCTAT ATATATATAGTCTATATATATAGTCTATATATATAGTCTATATATATAGT CTATATATATAGTCTATATATATATAGTCTATATATATAGTCTATATATA TAGTCTATATATATATAGTCTATATATATAGTCTATATATATAGACTATA TATATATAGACTATATATATATAGTCTATATATATATAGTCTATATATAT AGTCATAGACTATATATAGTCTATATATATATAGTCTATATATATATAGT CTATATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATA TATATATAGACTATATATATATAGTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0109 a0001c0001t0038g0109	1	186	0.0054	375	c.-56 others(394): Show c.-56-60582_-56-60581insGACTATATATATATAGTCTATATATA TATAGACTATATATATATAGACTATATATATATAGACTATATATATATAG ACTATATATATATAGACTATATATATATAGACTATATATAGTCTATGACT ATATATATAGACTATATATATATAGACTATATATATATAGTCTATATATA TATAGTCTATATATATAGACTATATATATAGACTATATATATATAGACTA TATATATAGACTATATATATAGACTATATATATATAGACTATATATATAG ACTATATATATAGACTATATATATAGACTATATATATAGACTATATATAT ATAGACTATATATATAGACTATATATATAGACTATATATATATAGACTA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MIER2_chr19_300573_349796	302593	A A	ATACACCA others(368): Show ATACACCAAAGTACATCCTCATCAGACACCTCAGTACACCAAAGCACATT CTCATCAGACACCTCAATACACCAAAGCACATCCTCATCAGACTCATTAC ACCAAAGCACATACTCATCAGACTCAATACACTAAAGCACAGCCTCATCA ATACACTAAAGCACATCCTCATCAGACACCTCAATACACCACAGCACATC CTCATCAGACTCAATACACCAAAGCACACCCTCATCAGACACCTCAATAC ACCAAAGCACATTCTCATCAGACACCTCAATACACCAAAGCACATCCTCA TCAGACTCAATACACCAAAGCACATCCTCATCAGACACCTCAATACACCA AAGTACATCCTCATCAGACACCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02486.hp2 others(5): Show HG02055.hp1 HG02258.hp2 HG02486.hp2 HG02615.hp1 HG03139.hp1 HG03579.hp2 NA19030.hp1 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0015 a0002c0004 a0002c0015	a0002c0004t0003 a0002c0015t0003 a0002c0004t0003 a0002c0015t0003	a0002c0004t0003g0086 a0002c0004t0003g0114 a0002c0004t0003g0115 others(5): Show a0002c0004t0003g0086 a0002c0004t0003g0114 a0002c0004t0003g0115 a0002c0004t0003g0116 a0002c0004t0003g0118 a0002c0004t0003g0119 a0002c0004t0003g0120 a0002c0015t0003g0224	8	384	0.0208	375	c.40 others(386): Show c.4096_*4097insCTGAGGTGTCTGATGAGGATGTACTTTGGTGTAT TGAGGTGTCTGATGAGGATGTGCTTTGGTGTATTGAGTCTGATGAGGATG TGCTTTGGTGTATTGAGGTGTCTGATGAGAATGTGCTTTGGTGTATTGAG GTGTCTGATGAGGGTGTGCTTTGGTGTATTGAGTCTGATGAGGATGTGCT GTGGTGTATTGAGGTGTCTGATGAGGATGTGCTTTAGTGTATTGATGAGG CTGTGCTTTAGTGTATTGAGTCTGATGAGTATGTGCTTTGGTGTAATGAG TCTGATGAGGATGTGCTTTGGTGTATTGAGGTGTCTGATGAGAATGTGCT TTGGTGTACTGAGGTGTCTGATGAGGATGTACTTTGGTGTA	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		2979		chr19	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TAATATAT others(368): Show TAATATATATACAATATTATATATATTATATATAATATATATACAATATT ATATATATTATATATATATACATATATATGTATATATACATATATAATAT GTATATATGTATATATATATGTATAATATATATATTGTATATATATATTA TACATATGTATATATATATTATACATATATATGTATAATATATATAATGT ATATATATATACATATTATATATTATATATAATATATACATATATATTAT ATATAATATATACATATTATATATTATATATATAATATATATACATATTA TATTATATATAATATATATACATATTACATATATTATATATAATATATAT ACATATATAATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0113 a0002c0003t0001g0113	1	332	0.0030	375	c.262 others(394): Show c.2620-6201_2620-6200insAATATATATACAATATTATATATATT ATATATAATATATATACAATATTATATATATTATATATATATACATATAT ATGTATATATACATATATAATATGTATATATGTATATATATATGTATAAT ATATATATTGTATATATATATTATACATATGTATATATATATTATACATA TATATGTATAATATATATAATGTATATATATATACATATTATATATTATA TATAATATATACATATATATTATATATAATATATACATATTATATATTAT ATATATAATATATATACATATTATATTATATATAATATATATACATATTA CATATATTATATATAATATATATACATATATAATATATTATATATTATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(368): Show TATATATACAATATTATATATATTATATATAATATATATACAATATTATA TATATTATATATATATACATATATATGTATATATACATATATAATATGTA TATATGTATATATATATGTATAATATATATATTGTATATATATATTATAC ATATGTATATATATATTATACATATATATGTATATATATATAATGTATAT ATATATACATATTATATATTATATATAATATATACATATATATTATATAT AATATATACATATTATATATTATATATATAATATATATACATATTATATT ATATATAATATATATACATATTACATATATTATATATAATATATATACAT ATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0104 a0002c0003t0001g0104	1	332	0.0030	375	c.262 others(394): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TATATACAATATTATATATATTATATATATATACATATATATGTATATAT ACATATATAATATGTATATATGTATATATATATGTATAATATATATATTG TATATATATATTATACATATGTATATATATATTATACATATATATGTATA TATATATAATGTATATATATATACATATTATATATTATATATAATATATA CATATATATTATATATAATATATACATATTATATATTATATATATAATAT ATATACATATTATATTATATATAATATATATACATATTACATATATTATA TATAATATATATACATATATAATATATTATATATTATATATAATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MUC4_chr3_195741771_195816929	195776471	A A	ACGGCCAT others(368): Show ACGGCCATACCTTCCACACCCATAACTTCCACACCCATACCTTCCACACC CTTACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCATAC CTTCCACGGTCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCC GCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACC CATACCTTCCACACCCTTACCTTCCACACCCTTACCTTCCACACCCATAC CTTCCACGGCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCC ACACCCATACCTTCCACACCCATACCTTCCGCACCCATACCTTCCACAGT CATACCTTCCACACCCATACCTTCCG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0052 a0052	a0052c0188 a0052c0188	a0052c0188t0003 a0052c0188t0003	a0052c0188t0003g0220 a0052c0188t0003g0220	1	249	0.0040	375	c.129 others(396): Show c.12943+1831_12943+1832insCGGAAGGTATGGGTGTGGAAGGTA TGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGT GTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGCCGTGGA AGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAAGGTA TGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGT GCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACCGTGGA AGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTA AGGGTGTGGAAGGTATGGGTGTGGAAGTTATGGGTGTGGAAGGTATGGCC G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776546	A A	ACACCCTT others(368): Show ACACCCTTACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGC CATACCTTCCACGGTCATACCTTCCGCACCCATACCTTCCGCACCCATAC CTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCC GCACCCATACCTTCCGCACCCATACCTTCCACACCCTTACCTTCCACACC CTTACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACAGTCATAC CTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCC GCACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCGCACC CATACCTTCCACAGTCATACCTTCCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0025 a0025	a0025c0021 a0025c0021	a0025c0021t0004 a0025c0021t0004	a0025c0021t0004g0245 a0025c0021t0004g0245	1	249	0.0040	375	c.129 others(396): Show c.12943+1756_12943+1757insCGGAAGGTATGACTGTGGAAGGTA TGGGTGCGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGT GCGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGA AGGTATGACTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTA AGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGCGGAAGGTATGGGT GCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGA AGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACCGTGGAAGGTA TGGCCGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGT G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MYL2_chr12_110905845_110925579	110905955	T T	TATATAAT others(368): Show TATATAATATATATTATATTATATAATATATAATTATATAATATATAATT ATATAAAATATATATTATATTATATATAAAATATATTATATAAAATATAT ATTATATTATATATAATATATATTATAAAATATATATTATATTATATATA ATATATATTATATAAAATATATATTATATTATATAATATATATTATATAA AATATATATTATATTATATATAATATATATTTTATAAAATATATATTATA TTATATAATATATATTTTATAAAATTTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAAAATATATATTATATTATATAATATA TATTATATAAAATATATATTATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	368	0.0027	375	c.51 others(386): Show c.5121_*5122insTAATATAATATATATTTTATATAATATATATTAT ATAATATAATATATATTTTATATAATATAATATATATTTTATATAATATA TATTATATATAATATAAATTTTATAAAATATATATTATATAATATAATAT ATATTTTATAAAATATATATTATATATAATATAATATATATTTTATATAA TATATATTATATAATATAATATATATTTTATATAATATATATTATATATA ATATAATATATATTTTATAATATATATTATATATAATATAATATATATTT TATATAATATATTTTATATATAATATAATATATATTTTATATAATTATAT ATTATATAATTATATATTATATAATATAATATATATTATAT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4889		chr12	TogoVar
NKTR_chr3_42595686_42653735	42596737	T T	TAGAAAGG others(368): Show TAGAAAGGAGATATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0068 a0002c0003t0014g0068	1	352	0.0028	375	c.-40 others(386): Show c.-4065_-4064insAGAAAGGAGATATTTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NKTR	ENSG00000114857.19	transcript	ENST00000232978.13	protein_coding		3948		chr3	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(368): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCCCCCCCTCCC CTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20129.hp1 HG02922.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0052 a0001c0001t0051 a0001c0001t0052	a0001c0001t0051g0278 a0001c0001t0052g0279 a0001c0001t0051g0278 a0001c0001t0052g0279	2	326	0.0061	375	c.433 others(392): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGG AAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(368): Show ATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0294 a0001c0003t0021g0294	1	378	0.0027	375	c.489 others(392): Show c.489+2584_489+2585insATAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808471	C C	CTATAAAA others(368): Show CTATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18941.hp2 HG01928.hp1 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0266 a0001c0003t0002g0276 a0001c0003t0002g0266 a0001c0003t0002g0276	2	378	0.0053	375	c.489 others(392): Show c.489+2870_489+2871insATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OCA2_chr15_27749875_28104315	27930644	A A	AGCTTGCC others(368): Show AGCTTGCCAACTCTTTTTTTTTTTTTAATTATACTTTAAGTTTTAGGGTA CATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTG GTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAAT GCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATG TTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAG TGAGAATATGCAGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAA TGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCA TTTTTTATGGCTGCATAGTATTCCAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0063 a0001c0032t0001g0063	1	110	0.0091	375	c.195 others(394): Show c.1952-4391_1952-4390insATGGAATACTATGCAGCCATAAAAAA TGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCA TTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACTGCATATTCTCA CTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAA CATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGC ATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCAC CAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATG TACCCTAAAACTTAAAGTATAATTAAAAAAAAAAAAAGAGTTGGCAAGC	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	18/23			chr15	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(368): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAT ACCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGA GCCGCCTGAGGACTGGATACCCCTGAGGACTGGAGCCCCCTGAGGACTGG AACCCCCTGAGGACTGGAGCCCCCTGAGGACAGGAGCCGCCCTGAGGACT AGAGCCCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGAC TGGAACCCCCTGAGCACTGGAGCCCCCTGAGGACTGGAGCCACCTGAGGA CTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGG ATTGGAGCCACCTGAGGACTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG03139.hp2 HG02257.hp2 HG03139.hp1 HG03139.hp2	a0015 a0019 a0021 a0015 a0019 a0021	a0015c0018 a0019c0028 a0021c0027 a0015c0018 a0019c0028 a0021c0027	a0015c0018t0015 a0019c0028t0039 a0021c0027t0010 a0015c0018t0015 a0019c0028t0039 a0021c0027t0010	a0015c0018t0015g0058 a0019c0028t0039g0060 a0021c0027t0010g0061 a0015c0018t0015g0058 a0019c0028t0039g0060 a0021c0027t0010g0061	3	406	0.0074	375	c.-37 others(386): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCTAGTCCTCA GGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCTCAGGGGGTTCCAGTCCT CAGGGGGCTCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCAGTCC TCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGTATCCAGTC CTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(368): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	438	0.0023	375	c.-29 others(390): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATA ATAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(368): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	438	0.0023	375	c.-29 others(390): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATA ATAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(368): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	438	0.0023	375	c.-29 others(390): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA ATAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(368): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	438	0.0023	375	c.-29 others(390): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83951892	C C	CCTCCCTC others(368): Show CCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTC CCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCT CCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCATCCCTTCC TCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCC CTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTC CCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTC CTTCCCTCCCTCCCTGCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG03453.hp1 HG02647.hp2 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0003 a0001c0002t0003 a0001c0003t0003	a0001c0002t0003g0170 a0001c0002t0003g0172 a0001c0003t0003g0171 a0001c0002t0003g0170 a0001c0002t0003g0172 a0001c0003t0003g0171	3	350	0.0086	375	c.-15 others(386): Show c.-1511_-1510insCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCT CCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCT CCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTT CCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTCCC TTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCC CTCCCTCCCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCC TTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1347		chr16	TogoVar
PCLO_chr7_82749012_83167884	82999839	A A	AAAATATA others(368): Show AAAATATAATATTATATATAAAATATAAAATATAATATTATATATAAAAT ATAAAATATAATATTATATATAAAATATAATATTATATATAAAATATAAA ATATAATATTATATATAAAATATAAAATATAATATTATATATAAAATATA AAATATAATATTATATATAAAATATAAAATATAATATTATATATAAAATA TAAAATATAATATTATATATAAAATATAATATATAATATTGTATATAAAA TATAATATATAATATTGTATATAAAATATAATATATAATATTGTATATAA AATATAATATATAATATTGTATATAAAATATAATATATAATATTAAATAT AAAATATAATATATAATATTAAATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0052 a0052	a0052c0103 a0052c0103	a0052c0103t0003 a0052c0103t0003	a0052c0103t0003g0081 a0052c0103t0003g0081	1	188	0.0053	375	c.330 others(396): Show c.3301-33353_3301-33352insATATTTAATATTATATATTATATT TTATATTTAATATTATATATTATATTTTATATACAATATTATATATTATA TTTTATATACAATATTATATATTATATTTTATATACAATATTATATATTA TATTTTATATACAATATTATATATTATATTTTATATATAATATTATATTT TATATTTTATATATAATATTATATTTTATATTTTATATATAATATTATAT TTTATATTTTATATATAATATTATATTTTATATTTTATATATAATATTAT ATTTTATATTTTATATATAATATTATATTTTATATATAATATTATATTTT ATATTTTATATATAATATTATATTTTATATTTTATATATAATATTATATT T	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(368): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0202 a0001c0002t0004g0202	1	262	0.0038	375	c.129 others(392): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE3A_chr12_20363537_20693583	20612597	C C	CTTACTTA others(368): Show CTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGT AACTATATATAAGTAATATATAAGTAACTATATATAAGTAATATAGTTAC TTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTA TATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATATA GTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGT AACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTA ATATAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATA TAAGTAACTATATATAAGTAATATAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0073 a0005c0008t0073	a0005c0008t0073g0018 a0005c0008t0073g0018	1	198	0.0051	375	c.101 others(392): Show c.1012-777_1012-776insTAAGTAACTATATATAAGTAATATAGTT ACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAAC TATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATA TAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAA GTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAG TAATATAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTA TATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATAT ATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PERM1_chr1_970198_987093	977572	C C	CCAACCCC others(368): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	408	0.0025	375	c.215 others(392): Show c.2150-949_2150-948insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIK3C2B_chr1_204417633_204499805	204471093	T T	TTGGTATT others(368): Show TTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19007.hp1 HG04204.hp2 NA19007.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0005 a0001c0005t0003 a0001c0004t0005 a0001c0005t0003	a0001c0004t0005g0285 a0001c0005t0003g0100 a0001c0004t0005g0285 a0001c0005t0003g0100	2	302	0.0066	375	c.-84 others(392): Show c.-84-1582_-84-1208dupGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCA	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(368): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGAAGGGGGGAGGGGAGAGGAGGGA AGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0006 a0001c0002t0004g0006	1	312	0.0032	375	c.53 others(386): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGAAGGGGGG AGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(368): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGG GGAAGAGGGGAAGGGAGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGGGGGAAGAGGGGAAGGGGGAGAGGGGAGGGGGAGAGGAGGGA AGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	312	0.0032	375	c.53 others(386): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGGAGGGGGAAGAGGGGAAGGGAGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGGAGAGGGGA GGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(368): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGAAGGGGGGAGGGGAGAGGAGGGA AGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0026 a0004c0012t0026	a0004c0012t0026g0075 a0004c0012t0026g0075	1	218	0.0046	375	c.262 others(390): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTCCCT CCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCC CATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCCC TCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar

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