Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TSPEAR_chr21_44492893_44716572	44637641	ACCAGCAG others(149): Show ACCAGCAGTCTAGCTGCCAGCCGGATTGCTGCACCTCCTCCCCCTGCCAG CAGGCCTGCTGTGTGCCTGTCTGCTGTGTGCCCGTCTGCTGCGTGCCCGT CTGTAACAAGCCTGTGTGCTTCGTGCCTACCTGCTCCGAGTCTTCCCCTT CATGCTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	294	0.0034	-156	c.83- others(17): Show c.83-69792_83-69637del	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TTBK2_chr15_42733730_42925778	42815925	TTTAAAAA others(149): Show TTTAAAAATATATATATATATATTTAAAAAAAAAATATATATATATATAT ATATTTGAGACGGAGTCTTGCTCTGTCTCAAATTTGGAAGAGATGTTCAA TCTCTTCCAAATTCTCCCTCTCTCTATATAAAAATATATATATATAAAAA TAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0020 a0003c0003t0014g0020	1	248	0.0040	-156	c.603 others(16): Show c.603+951_603+1106del	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	7/14			chr15	TogoVar
TYMS_chr18_652653_678578	666897	TGATGGAG others(149): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGAT GGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGATGG TGATGGA	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	482	0.0021	-156	c.455 others(17): Show c.455-2127_455-1972del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666945	TGATGGTG others(149): Show TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGAT GGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGG AGATGGA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA21309.hp1 HG03139.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0010g0196 a0001c0001t0010g0197	2	482	0.0042	-156	c.455 others(17): Show c.455-2121_455-1966del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666957	AGATGGAG others(149): Show AGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGAT GGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGG AGATGGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0411 a0001c0001t0010g0411	1	482	0.0021	-156	c.455 others(17): Show c.455-2109_455-1954del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP40_chr2_233470526_233571782	233567318	TATTATAG others(149): Show TATTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATAT AAGATTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTAT ATAAGATTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTT ATATAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02622.hp1 others(8): Show HG02055.hp2 HG02109.hp1 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03139.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp2	a0006 a0007 a0006 a0007	a0006c0006 a0007c0007 a0006c0006 a0007c0007	a0006c0006t0004 a0007c0007t0004 a0006c0006t0004 a0007c0007t0004	a0006c0006t0004g0028 a0006c0006t0004g0030 a0006c0006t0004g0031 others(8): Show a0006c0006t0004g0028 a0006c0006t0004g0030 a0006c0006t0004g0031 a0006c0006t0004g0041 a0007c0007t0004g0029 a0007c0007t0004g0032 a0007c0007t0004g0034 a0007c0007t0004g0035 a0007c0007t0004g0036 a0007c0007t0004g0037 a0007c0007t0004g0040	11	324	0.0340	-156	c.-81 others(9): Show c.-810_-655del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		537		chr2	TogoVar
USP40_chr2_233470526_233571782	233567788	TTAGTTAT others(149): Show TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02559.hp1 HG02717.hp2 others(2): Show HG02080.hp2 HG02559.hp1 HG02717.hp2 HG02809.hp1 NA19063.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0003 a0004c0004t0008 a0002c0002t0001 a0004c0004t0003 a0004c0004t0008	a0002c0002t0001g0273 a0002c0002t0001g0274 a0004c0004t0003g0053 others(2): Show a0002c0002t0001g0273 a0002c0002t0001g0274 a0004c0004t0003g0053 a0004c0004t0003g0075 a0004c0004t0008g0044	5	324	0.0154	-156	c.-12 others(11): Show c.-1280_-1125del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1007		chr2	TogoVar
USP7_chr16_8887097_8968906	8953564	AGCAGAGG others(149): Show AGCAGAGGGAAGACACGTGCCCCATGCGGCGCCACCGGAAGCAGAGGGAA GACACGTGCCCCGTGCGGCGCCACCGGAAGCAGAGGGAAGACACGTGCCC CGTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCGTGCGGCGCC ACCGGAG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 NA18991.hp2 others(1): Show HG02083.hp1 HG02083.hp2 NA18991.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0122 a0001c0001t0001g0125 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126	4	338	0.0118	-156	c.79+ others(15): Show c.79+9487_79+9642del	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
XXYLT1_chr3_195063284_195276159	195272791	AAAAAAAA others(149): Show AAAAAAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCG AGAGGCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGT GAGCCGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACC CTGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp1 others(54): Show HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00673.hp2 HG01069.hp2 HG01081.hp2 HG01361.hp1 HG01884.hp1 HG01978.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02738.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18960.hp1 NA18960.hp2 NA18983.hp1 NA18993.hp2 NA18995.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0002c0002t0004 a0002c0002t0007	a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0129 others(54): Show a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0003g0116 a0001c0001t0003g0124 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0170 a0001c0001t0004g0128 a0001c0001t0004g0139 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0157 a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0005g0142 a0001c0001t0005g0149 a0001c0001t0006g0117 a0001c0001t0006g0131 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0008g0138 a0001c0001t0008g0171 a0001c0001t0009g0118 a0001c0001t0009g0121 a0001c0001t0009g0165 a0001c0001t0011g0132 a0001c0001t0016g0134 a0001c0001t0019g0154 a0001c0001t0023g0197 a0001c0001t0023g0198 a0001c0001t0025g0133 a0002c0002t0004g0147 a0002c0002t0007g0153	57	198	0.2879	-156	c.-18 others(11): Show c.-1889_-1734del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding		1633		chr3	TogoVar
ZMYND11_chr10_130455_259637	197058	ATGTGTTC others(149): Show ATGTGTTCATGTATGTGTATCAATACATACGCATGGAAGGTGGCGTGCTT TTAGTTCACGTGTGTGCCCACGTGCACATTGTATTCATGTATGTGTATCA ATACATACGCGTGGAAAGTGGAGTGCTTTTAGTTCACGTGTGTGCCCACG TGCGCAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp2 HG02818.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0178 a0001c0002t0001g0159 a0001c0002t0001g0178	2	342	0.0059	-156	c.117 others(19): Show c.117-12788_117-12633del	ZMYND11	ENSG00000015171.21	transcript	ENST00000381604.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF618_chr9_113871309_114061593	113900794	AAACCCGA others(149): Show AAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCGACCT CCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCGACCTCCTGTCTCCTA GCACCGTCCTCTCGCGCTAACCCGACCTCCTGTCTCCTAGCACCGTCCTC TCCCGCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03453.hp2 NA18955.hp2 others(7): Show HG02895.hp1 HG03453.hp2 NA18955.hp2 NA18957.hp1 NA18971.hp1 NA18989.hp2 NA19065.hp2 NA19074.hp1 NA19084.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0026 a0003c0025	a0001c0001t0008 a0001c0001t0120 a0001c0001t0141 others(7): Show a0001c0001t0008 a0001c0001t0120 a0001c0001t0141 a0001c0001t0155 a0001c0002t0001 a0001c0003t0001 a0001c0003t0024 a0001c0008t0110 a0001c0026t0018 a0003c0025t0012	a0001c0001t0008g0203 a0001c0001t0120g0184 a0001c0001t0141g0202 others(7): Show a0001c0001t0008g0203 a0001c0001t0120g0184 a0001c0001t0141g0202 a0001c0001t0155g0182 a0001c0002t0001g0167 a0001c0003t0001g0185 a0001c0003t0024g0201 a0001c0008t0110g0016 a0001c0026t0018g0204 a0003c0025t0012g0015	10	264	0.0379	-156	c.33+ others(17): Show c.33+24455_33+24610del	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF618_chr9_113871309_114061593	113900872	AAACCCGA others(149): Show AAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCGCGCTAACCCGACCT CCTGTCTCCTAGCACCGTCCTCTCCCGCGAACCCGACCTCCTGTCTCCTA GCACCGTCCTCTCCCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTC TCGCGCT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00621.hp1 others(26): Show HG00544.hp1 HG00597.hp1 HG00621.hp1 HG01255.hp2 HG01257.hp1 HG01433.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02129.hp1 HG02165.hp2 HG02293.hp2 NA18939.hp2 NA18943.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18977.hp2 NA18980.hp2 NA18994.hp2 NA19001.hp1 NA19057.hp1 NA19067.hp1 NA19079.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0014 a0001c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(22): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0034 a0001c0001t0056 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0144 a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0015 a0001c0002t0026 a0001c0002t0049 a0001c0002t0071 a0001c0002t0072 a0001c0002t0092 a0001c0003t0002 a0001c0003t0064 a0001c0007t0089 a0001c0010t0091 a0001c0014t0145 a0001c0018t0119	a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0005g0189 others(26): Show a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0005g0189 a0001c0001t0008g0200 a0001c0001t0034g0174 a0001c0001t0056g0188 a0001c0001t0132g0197 a0001c0001t0133g0179 a0001c0001t0134g0235 a0001c0001t0144g0187 a0001c0002t0001g0205 a0001c0002t0007g0180 a0001c0002t0009g0171 a0001c0002t0011g0175 a0001c0002t0011g0221 a0001c0002t0015g0176 a0001c0002t0026g0169 a0001c0002t0049g0014 a0001c0002t0071g0191 a0001c0002t0072g0177 a0001c0002t0092g0195 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0193 a0001c0003t0064g0178 a0001c0007t0089g0196 a0001c0010t0091g0183 a0001c0014t0145g0199 a0001c0018t0119g0181	29	264	0.1099	-156	c.33+ others(17): Show c.33+24537_33+24692del	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABR_chr17_998519_1184981	1172995	CCCAACAC others(148): Show CCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCACCCAAC ACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCCCATCA TCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0103 a0001c0001t0014g0103	1	337	0.0030	-155	c.61+ others(15): Show c.61+6517_61+6671del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP2_chr3_195269745_195448020	195272792	AAAAAAAG others(148): Show AAAAAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGA GAGGCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTG AGCCGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACCC TGTCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02818.hp1 HG06807.hp1 others(3): Show HG02451.hp2 HG02818.hp1 HG06807.hp1 NA19006.hp2 NA19080.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0029 a0001c0001t0001 a0001c0001t0017 a0001c0001t0029	a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0017g0005 others(3): Show a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0017g0005 a0001c0001t0017g0302 a0001c0001t0017g0306 a0001c0001t0029g0247	6	324	0.0185	-155	c.63 others(11): Show c.6381_*6535del	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding		1952		chr3	TogoVar
AMFR_chr16_56356452_56430545	56397954	TAATATAT others(148): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	356	0.0028	-155	c.108 others(19): Show c.1085+3624_1085+3778del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
ANK2_chr4_113044653_113388736	113334516	ATAGAAAG others(148): Show ATAGAAAGTTAATAGATTAATTAATCTATTACTAGAAAGTTAATAGATTA ATTAATCTATTACTAGAAAGTTAATAGATTAATTAATCTATTACTAGAAA GTTAATAGATTAATTAATCTATTACTAGAAGGTTAATAGATTAATTAATC TATTAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02897.hp1 others(2): Show HG00639.hp1 HG01884.hp2 HG02897.hp1 HG02970.hp2 HG03453.hp1	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0023 a0002c0030 a0002c0035 others(2): Show a0002c0023 a0002c0030 a0002c0035 a0003c0034 a0010c0026	a0002c0023t0001 a0002c0030t0001 a0002c0035t0001 others(2): Show a0002c0023t0001 a0002c0030t0001 a0002c0035t0001 a0003c0034t0001 a0010c0026t0001	a0002c0023t0001g0058 a0002c0030t0001g0077 a0002c0035t0001g0169 others(2): Show a0002c0023t0001g0058 a0002c0030t0001g0077 a0002c0035t0001g0169 a0003c0034t0001g0056 a0010c0026t0001g0034	5	178	0.0281	-155	c.338 others(19): Show c.3380-1200_3380-1046del	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	29/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD11_chr16_89262630_89495561	89328681	CACCCAGG others(148): Show CACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTGAGTGAGTGGA CATACCCAGGAGCACGGGCGAAATCAGCGGAGGCCCCTGCTGAGTGAGTG GACACACCCAGGCGCACGGGCGAATCAGCGGAGGCCCCTGCTGAGTGAGT GGACAT	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19080.hp2 NA18952.hp2 NA19080.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0010 a0004c0004 a0006c0010	a0004c0004t0001 a0006c0010t0001 a0004c0004t0001 a0006c0010t0001	a0004c0004t0001g0291 a0006c0010t0001g0189 a0004c0004t0001g0291 a0006c0010t0001g0189	2	310	0.0065	-155	c.-59 others(19): Show c.-59-11758_-59-11604del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD33B_chr5_10559070_10662816	10639172	CGGCGTTG others(148): Show CGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGT TAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTT GCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0155 a0001c0007t0001g0155	1	324	0.0031	-155	c.637 others(17): Show c.637+1007_637+1161del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639237	GGTTGCGC others(148): Show GGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAG CGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCG CGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGA CGCGGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0251 a0001c0001t0001g0252	2	324	0.0062	-155	c.637 others(17): Show c.637+1088_637+1242del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639288	GGGTGACG others(148): Show GGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGC GGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGGGTTGCGCGGCGATG TTAGGC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0145 a0001c0004t0002g0145	1	324	0.0031	-155	c.637 others(17): Show c.637+1159_637+1313del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639516	CGTTGCGC others(148): Show CGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAG GCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCG CGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGA CGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0161 a0001c0007t0001g0161	1	324	0.0031	-155	c.637 others(17): Show c.637+1376_637+1530del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639671	GGTTGCGC others(148): Show GGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAG CGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCG CGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGA CGCGGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0251 a0001c0001t0001g0252	2	324	0.0062	-155	c.637 others(17): Show c.637+1522_637+1676del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639805	CGATGTTA others(148): Show CGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGC GGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGTGCGGCGATGTT AGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTG CGCGGT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0093	1	324	0.0031	-155	c.637 others(17): Show c.637+1686_637+1840del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP8_chr22_44747575_44867784	44800985	GGGGCCGC others(148): Show GGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCG CAGCTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGAGGGGCAC CTCTCCCCGCAGCTGTCCATGTGTGGGGGCACCTCTCCCCGCAGCTGTCC ATGTGT	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	390	0.0026	-155	c.80- others(14): Show c.80-1088_80-934del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARID4B_chr1_235161902_235333179	235294405	CGGGTTCA others(148): Show CGGGTTCAAGCAATTCTCCCGCTTGAACCCAGGGGTTCAAGCAATTCTCC CGCTTGAACCCAGGGGTTCAAGCAATTCTCCCGCTTGAACCCAGGGGTTC AAGCAATTCTCCCGCTTGAACCCAGGGGTTCAAGCAATTCTCCCGCTTGA ACCCAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp2 others(117): Show HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19088.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0002 a0001c0009 a0001c0010 others(8): Show a0001c0002 a0001c0009 a0001c0010 a0001c0014 a0002c0003 a0003c0005 a0005c0013 a0006c0015 a0007c0016 a0008c0017 a0009c0018	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(11): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0009t0001 a0001c0010t0001 a0001c0014t0001 a0002c0003t0001 a0003c0005t0001 a0003c0005t0002 a0005c0013t0001 a0006c0015t0001 a0007c0016t0001 a0008c0017t0001 a0009c0018t0001	a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 others(117): Show a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0003g0014 a0001c0002t0004g0038 a0001c0009t0001g0095 a0001c0009t0001g0096 a0001c0010t0001g0125 a0001c0014t0001g0091 a0002c0003t0001g0097 a0002c0003t0001g0100 a0002c0003t0001g0102 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0003c0005t0001g0052 a0003c0005t0002g0105 a0005c0013t0001g0054 a0006c0015t0001g0114 a0007c0016t0001g0103 a0008c0017t0001g0135 a0009c0018t0001g0112	120	272	0.4412	-155	c.6+3 others(15): Show c.6+32354_6+32508del	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	2/23			chr1	TogoVar
ASMT_chrX_1610059_1648081	1624598	CCAGGCAG others(148): Show CCAGGCAGATGCTGGGAGGTGGTGGCTGCACCCAGGCAGATGCTGGGAGG TGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCA GATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGGTGGTGGC TGACCA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	223	0.0045	-155	c.374 others(15): Show c.374+222_374+376del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1624620	TGGCTGCA others(148): Show TGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGAT GCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGA CCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGA GGTGGG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	223	0.0045	-155	c.374 others(15): Show c.374+228_374+382del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1624682	TGGCTGAC others(148): Show TGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGAT GCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGA CCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCAGATGCTGGGA GGTGGG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	223	0.0045	-155	c.374 others(15): Show c.374+290_374+444del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
BICDL2_chr16_3022682_3041944	3031167	AGAGGGAC others(148): Show AGAGGGACAGAGGCAGAGAGGCACCGATGAGACTGGGCAGGCACAGAGAG ATGGCGATGGAGGGACAGACACCTAGGGAGAAAGCCTAAGGGGGCCTTGT GTCCAAGACAGACACAAAAGCAAGGGAGAGTGAGGGAGGAAGCGTGAGCA AGACCC	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	390	0.0026	-155	c.283 others(14): Show c.283-172_283-18del	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding	2/9			chr16	TogoVar
CANT1_chr17_78986716_79014764	79004814	GGGGAGTT others(148): Show GGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGATTTAGGGAGGGGGGAGT TAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAG GGGAGCTGGGGGGGAGTTATGGAGCAAGGAGTTAGGGAGGGGGGAGTTAG GGAGAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01516.hp1 HG01517.hp2 others(29): Show HG01109.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02135.hp2 HG02300.hp1 HG02602.hp1 HG02735.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp2 HG03471.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp1 NA18522.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19056.hp2 NA19066.hp1 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(18): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0002t0003g0014 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0047 a0001c0002t0003g0052 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0228 a0001c0002t0005g0026 a0001c0002t0005g0083 a0001c0002t0005g0091 a0001c0002t0012g0048	32	394	0.0812	-155	c.-14 others(19): Show c.-147+4695_-147+4849del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CEP170B_chr14_104860268_104901747	104884690	CGGGGGGT others(148): Show CGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACCGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGG GGAACG	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA21309.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0193 a0001c0003t0002g0201 a0001c0003t0002g0193 a0001c0003t0002g0201	2	328	0.0061	-155	c.177 others(17): Show c.1770+193_1770+347del	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP72_chr5_607340_658553	633207	AGTCCTGG others(148): Show AGTCCTGGTGGGGTTCTGTCCAGTGCTGGATTTGACCCAGTCCTGGTGGG GTGCTGTCCAGTTCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTTCAG TGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCAGGATTT AGTCCC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01515.hp2 HG01517.hp2 HG01175.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044	3	91	0.0330	-155	c.513 others(15): Show c.513-500_513-346del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP299_chr4_80330730_80968750	80799792	TATATTAT others(148): Show TATATTATATAATATATAAATATATATATTATATATATTTATATATTATA TTATATAATATATAAATATATATTATATATATTATATTATATAATATATA AATTATATATTATAATATAATATATAATATATATATTTATATATTATATT ATATAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	96	0.0104	-155	c.334 others(19): Show c.334-70189_334-70035del	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLN8_chr8_1758789_1791570	1763383	GCGCCCGC others(148): Show GCGCCCGCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGC GCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCG CGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCC GCGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02738.hp1 HG01192.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0022 a0001c0001t0021g0004 a0001c0001t0004g0022 a0001c0001t0021g0004	2	413	0.0048	-155	c.-62 others(9): Show c.-625_-471del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		405		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763455	GCCCCCCG others(148): Show GCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCC CGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCC CCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGC CCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0167 a0001c0001t0065g0167	1	413	0.0024	-155	c.-55 others(9): Show c.-553_-399del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		333		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763460	CCGCCGCG others(148): Show CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCC CCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGC CCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0066 a0004c0004t0066	a0004c0004t0066g0134 a0004c0004t0066g0134	1	413	0.0024	-155	c.-54 others(9): Show c.-548_-394del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		328		chr8	TogoVar
CLOCK_chr4_55422903_55551909	55445115	TCTCAACC others(148): Show TCTCAACCACGTTTAACATATGATATGGTCTGGTTATTGTTAATTTCTGA AATCAAAGTTGTGTGCCCTGAAATGTAATTTAGTATCCCAAATACAAACT ATTGAAGATAGAGTTAAAAAGCTTTGGATGGGAAGGACATTTCTCACTTT TACATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp2 others(106): Show HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19081.hp2 NA19083.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0012 a0001c0014 others(2): Show a0001c0001 a0001c0012 a0001c0014 a0003c0007 a0006c0013	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0030 a0001c0001t0038 a0001c0001t0039 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0012t0001 a0001c0014t0001 a0003c0007t0040 a0006c0013t0078	a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0082 others(105): Show a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0007g0074 a0001c0001t0007g0078 a0001c0001t0007g0088 a0001c0001t0007g0113 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0163 a0001c0001t0007g0172 a0001c0001t0008g0075 a0001c0001t0008g0080 a0001c0001t0008g0092 a0001c0001t0008g0102 a0001c0001t0008g0108 a0001c0001t0008g0134 a0001c0001t0008g0171 a0001c0001t0010g0093 a0001c0001t0010g0114 a0001c0001t0010g0115 a0001c0001t0010g0173 a0001c0001t0010g0174 a0001c0001t0010g0178 a0001c0001t0013g0098 a0001c0001t0013g0126 a0001c0001t0013g0127 a0001c0001t0013g0154 a0001c0001t0013g0166 a0001c0001t0014g0091 a0001c0001t0014g0112 a0001c0001t0014g0142 a0001c0001t0014g0155 a0001c0001t0014g0176 a0001c0001t0021g0095 a0001c0001t0021g0110 a0001c0001t0021g0121 a0001c0001t0021g0146 a0001c0001t0030g0133 a0001c0001t0030g0145 a0001c0001t0030g0160 a0001c0001t0038g0131 a0001c0001t0038g0132 a0001c0001t0039g0076 a0001c0001t0039g0077 a0001c0001t0075g0148 a0001c0001t0076g0164 a0001c0001t0077g0128 a0001c0001t0079g0149 a0001c0001t0080g0079 a0001c0012t0001g0168 a0001c0014t0001g0140 a0003c0007t0040g0179 a0003c0007t0040g0180 a0006c0013t0078g0152	109	338	0.3225	-155	c.154 others(17): Show c.1540-485_1540-331del	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	18/22			chr4	TogoVar
CNTNAP3B_chr9_41885536_42134426	42118830	TCAAAATC others(148): Show TCAAAATCAAGATTTTGTATCTTGATTTGATACAAAATCAAGATTTTGTA TCTTGATTTGATACAAAATCAAGATTTTGTATCTTGATTTGATACAAAAT CAAGATTTTGTATCTTGATTTGATACAAAATCAAGATTTTGTATCTTGAT TTGATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02717.hp1 HG03453.hp2 HG00280.hp1 HG02717.hp1 HG03453.hp2	a0001 a0034 a0001 a0034	a0001c0001 a0001c0042 a0034c0038 a0001c0001 a0001c0042 a0034c0038	a0001c0001t0003 a0001c0042t0013 a0034c0038t0002 a0001c0001t0003 a0001c0042t0013 a0034c0038t0002	a0001c0001t0003g0096 a0001c0042t0013g0001 a0034c0038t0002g0016 a0001c0001t0003g0096 a0001c0042t0013g0001 a0034c0038t0002g0016	3	108	0.0278	-155	c.85+ others(17): Show c.85+10025_85+10179del	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	1/23			chr9	TogoVar
CPNE7_chr16_89570758_89602246	89587845	GCCCCCGT others(148): Show GCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGC	G G	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0117 a0001c0002t0004g0117	1	348	0.0029	-155	c.928 others(15): Show c.928-760_928-606del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSNK1G2_chr19_1936172_1986338	1968091	CCTCCTCC others(148): Show CCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCT CCTCCCCAGGCTGTCCCTGACCACCCTTCAGTTCTGCAGGTGGGGCTCCT CCCTCCTCCCTCCTCCCCAGGCTGCCCCAGACCACCCTTCAGTTCTGCAG GTGGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(61): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00621.hp1 HG01109.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02027.hp2 HG02074.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG04199.hp2 NA18906.hp2 NA18945.hp2 NA18948.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19070.hp2 NA19080.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0018 a0001c0001t0020 others(6): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0020 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0002t0024 a0002c0006t0016 a0003c0005t0002	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 others(59): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0160 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0018g0282 a0001c0001t0020g0243 a0001c0002t0002g0003 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0075 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0225 a0001c0002t0002g0234 a0001c0002t0002g0240 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0267 a0001c0002t0002g0321 a0001c0002t0010g0224 a0001c0002t0019g0078 a0001c0002t0024g0025 a0002c0006t0016g0059 a0003c0005t0002g0060	64	382	0.1675	-155	c.-26 others(19): Show c.-265-1408_-265-1254del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYLC2_chr9_102990333_103023488	103014612	ATATGTAT others(148): Show ATATGTATATTATGCAGTATACATCATATGTATATTATGCAGTATACACC ATATGTATATTATGCAGTATACATATGTAATATACGTATGTATATTATGC AATATACATATGTAATATACGTATGTATATTATGCAATATACATATGTAA TATACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03195.hp2 HG01109.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0045 a0003c0003t0046 a0003c0003t0045 a0003c0003t0046	a0003c0003t0045g0200 a0003c0003t0046g0201 a0003c0003t0045g0200 a0003c0003t0046g0201	2	448	0.0045	-155	c.81 others(19): Show c.817-2260_*817-2106del	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
DIP2C_chr10_269201_694668	459774	GAACCACC others(148): Show GAACCACCTGCTGCACGTGAGCTCTAGGACCTTCCCACAGCCACATCAGG GAACTGCGTGCTGCACGTAGGCTCTAGGATCTTCCTCTCACAGTCACATC AGGGAACCACCTGCTGCACGTGAGCTCTAGGACCTTCCCAGTCACATCAG GGAACC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	-155	c.268 others(19): Show c.268+12510_268+12664del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1642012	TCACCTGT others(148): Show TCACCTGTGTCACCCTCGACCCTGCCGGCCCCCACCTGTGTCACCCTCGA CCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTG TGTCACCCTCGACCCTGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCC GGTCCC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-155	c.181 others(19): Show c.1810+8983_1810+9137del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642350	TCCTCACC others(148): Show TCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCT CGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCAC CTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCTCGAACCC GCCAGC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02976.hp2 HG01361.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0015 a0002c0001t0001g0018 a0001c0002t0001g0015 a0002c0001t0001g0018	2	40	0.0500	-155	c.181 others(19): Show c.1810+9423_1810+9577del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643300	CGACCCCG others(148): Show CGACCCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCAC CTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTC ACCCTG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0035 a0002c0001t0005g0035	1	40	0.0250	-155	c.181 others(21): Show c.1810+10257_1810+10411del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643746	CCCTCACC others(148): Show CCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCT CGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCAC CTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCC GCCGGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-155	c.181 others(21): Show c.1810+10720_1810+10874del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF4G3_chr1_20801479_21181897	20919866	TGTTATTT others(148): Show TGTTATTTTCTCTTGTGATGACTTCAGTTAGCCCTCTGGAGATAATTCTT TTTTTTTTTTAAGACGGAGTTTTGCTCGTTGCCCAGGCTGGAGTGCAATG GCGCAATCTGGGCTCACTACAACCTCCACCTCCCGGGTTCAAGTGATTCT CCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	312	0.0032	-155	c.166 others(21): Show c.1664-15050_1664-14896del	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	14/36			chr1	TogoVar
ERGIC1_chr5_172829251_172957683	172947826	GTCATAAG others(148): Show GTCATAAGCATTTGGGTTCCAAATTGTGTGTAGATGAATACAGATGTGTT TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTTATTTTTTATT TTTTGCTTCATTGCACGTAAGTCACATTTTCCTATCTTCTGATCCAAGCT CTAAAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	334	0.0030	-155	c.766 others(17): Show c.766-2882_766-2728del	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	9/9			chr5	TogoVar
F10_chr13_113117799_113154529	113154098	GGGGGGCG others(148): Show GGGGGGCGGGGCGTGGGGGAGGGCAGGGGCACGTGACGCAGGGCGTGGGG GAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGG GCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAG GGGCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0334 a0001c0002t0001g0334	1	412	0.0024	-155	c.45 others(11): Show c.4582_*4736del	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4570		chr13	TogoVar
FAM120B_chr6_170301758_170412067	170399824	AGTGAGTG others(148): Show AGTGAGTGGGGAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGGAA GGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTAT GTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCT TAGGAG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	289	0.0035	-155	c.269 others(19): Show c.2692+4246_2692+4400del	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10			chr6	TogoVar

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