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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NRK_chrX_105817539_105963610	105866261	CCATAATC others(203): Show CCATAATCACAGACTGGAGGACTTTAACATCTGCCTCGGAATGTTATAGA TCAAGTTGGCAAAAACCTCCATAAGAATGCAATTAGCAAGCTTGGACCCA TGGAAATATATTGAATTCTGAATCAAGAGTTAGAGAATAAACTAAAAAAT AATCAAGGTTAGAAAATAAAATGTTTCTTATGTGCTGTATTCTTTTCCAG CACGTAAGGGA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02300.hp1 NA18962.hp1 others(4): Show HG01934.hp1 HG02300.hp1 NA18962.hp1 NA18977.hp1 NA18994.hp1 NA19009.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(4): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0166	7	217	0.0323	-210	c.124 others(19): Show c.124-13934_124-13725del		NRK	ENSG00000123572.17	transcript	ENST00000243300.14	protein_coding	2/28					INFO_REALIGN_3_PRIME	chrX	TogoVar
OGFOD3_chr17_82384210_82423586	82386014	GGGCTGTC others(203): Show GGGCTGTCTCTGTCCCAGGCTCTCCTCCCCATCCTCCCTCCGTCTTCCCC TGGCCTCCAGTGATGGGGAGGGGCTGTCTCTGTCCCAGGCTCTCCTCCCC CATCCTGCCTCCGCCTTCCCCGGCCTCCAGTGATGGGGAGGGGCTGTCTC TGTCCCAGGCTCTCCTCTCTGTCCTCCCTCCGCCTTCCCCTGGCCTCTAG TGATGGGGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG01496.hp2 others(2): Show HG00642.hp1 HG01192.hp1 HG01496.hp2 HG02486.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0215 a0001c0001t0003g0218 others(1): Show a0001c0001t0003g0016 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0003g0219	5	343	0.0146	-210	c.61 others(11): Show c.6174_*6383del		OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding					3195		chr17	TogoVar
OR2V2_chr5_181142586_181164285	181160697	ATTGGGGG others(203): Show ATTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGAC GAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTG GGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTC ACTGGGGGTGGGGCCAGGACGAGCATCGTCGTTGGGGGTGGGGCCAGGAC GAGCATCGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	421	0.0024	-210	c.48 others(11): Show c.4808_*5017del		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1413		chr5	TogoVar
OTUB1_chr11_63981438_64003412	63997203	TTCATCGA others(203): Show TTCATCGAGGGTGGACGGACTGTCAAGGAGTTCTGCCAGCAGGTGCCGTC CCCCTCCCCTTTACTCTCGGCCGGGGGAGTGCAGTGGGCCCACAGGGCCT GGGGCGGGGTGCGGAGACCAGGGCCTGACCGGCACCTGTGCCACAGGAGG TGGAGCCCATGTGCAAGGAGAGCGACCACATCCACATCATTGCGCTGGCC CAGGCCCTCAG	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0094 a0003c0003t0001g0094	1	328	0.0030	-210	c.578 others(7): Show c.578_683del	p.Phe others(5): Show p.Phe193fs	OTUB1	ENSG00000167770.13	transcript	ENST00000538426.6	protein_coding	6/7	597/1701	578/816	193/271			chr11	TogoVar
P2RX5_chr17_3668227_3701155	3680694	GGTCCTCC others(203): Show GGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCGTCCTCC ACCCAGCGTCCTCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCA TCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCAGCGTCCTCCAC CCTGCATCCTCCACCCTGAGTCCTCCACCCAGTGTCCTCCACCCTGCATC CTCCACCCAGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0237 a0002c0002t0001g0237	1	358	0.0028	-210	c.106 others(17): Show c.1064+992_1065-911del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11						chr17	TogoVar
PARVB_chr22_44019302_44177939	44114464	ATTGTTAC others(203): Show ATTGTTACTAACTAAGGCCCTGCACCAGCACAGATATATTGTTACTAAGG CCCTGTACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACA CAGATATGTTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTA AGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCACCA ACACAGATACG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(85): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA18983.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0002 a0001c0005 others(13): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0023 a0001c0024 a0001c0025 a0002c0003 a0003c0006 a0004c0009 a0005c0018 a0006c0032 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0049 a0001c0001t0053 a0001c0001t0065 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0002t0060 a0001c0002t0062 a0001c0005t0004 a0001c0005t0009 a0001c0007t0004 a0001c0007t0043 a0001c0008t0047 a0001c0011t0033 a0001c0012t0035 a0001c0023t0055 a0001c0024t0001 a0001c0025t0013 a0002c0003t0001 a0002c0003t0011 a0002c0003t0021 a0002c0003t0026 a0003c0006t0004 a0003c0006t0008 a0003c0006t0058 a0004c0009t0001 a0004c0009t0007 a0005c0018t0037 a0006c0032t0048 a0009c0017t0001	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0045 others(85): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0231 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0314 a0001c0001t0002g0137 a0001c0001t0002g0171 a0001c0001t0002g0198 a0001c0001t0002g0211 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0227 a0001c0001t0003g0233 a0001c0001t0003g0255 a0001c0001t0003g0271 a0001c0001t0004g0154 a0001c0001t0004g0203 a0001c0001t0005g0080 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0170 a0001c0001t0005g0260 a0001c0001t0006g0224 a0001c0001t0006g0276 a0001c0001t0007g0082 a0001c0001t0007g0215 a0001c0001t0007g0254 a0001c0001t0007g0265 a0001c0001t0009g0120 a0001c0001t0010g0178 a0001c0001t0011g0052 a0001c0001t0012g0183 a0001c0001t0016g0316 a0001c0001t0049g0308 a0001c0001t0053g0210 a0001c0001t0065g0015 a0001c0001t0067g0033 a0001c0001t0070g0225 a0001c0001t0071g0330 a0001c0002t0001g0010 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0005g0126 a0001c0002t0005g0156 a0001c0002t0005g0176 a0001c0002t0005g0200 a0001c0002t0005g0201 a0001c0002t0007g0005 a0001c0002t0009g0322 a0001c0002t0012g0078 a0001c0002t0020g0073 a0001c0002t0021g0177 a0001c0002t0060g0023 a0001c0002t0062g0167 a0001c0005t0004g0101 a0001c0005t0009g0072 a0001c0007t0004g0088 a0001c0007t0043g0094 a0001c0008t0047g0323 a0001c0011t0033g0326 a0001c0012t0035g0122 a0001c0023t0055g0083 a0001c0024t0001g0029 a0001c0025t0013g0099 a0002c0003t0001g0051 a0002c0003t0011g0284 a0002c0003t0021g0025 a0002c0003t0026g0331 a0003c0006t0004g0106 a0003c0006t0004g0114 a0003c0006t0008g0107 a0003c0006t0058g0105 a0004c0009t0001g0258 a0004c0009t0007g0212 a0005c0018t0037g0103 a0006c0032t0048g0159 a0009c0017t0001g0182	88	328	0.2683	-210	c.274 others(17): Show c.274-4547_274-4338del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PBX3_chr9_125742373_125972377	125899192	GATATATA others(203): Show GATATATATATTTATAAATATACATATGTATATATATTTATATATAAATA TACATATGTATATATATTTATATATAAATATACATATGTATATATATTTA TATATAAATATACATATATGTATATATTTTTATATAAATATATACATATA TGTATATATTTTTATATAAATATATACATATATGTATATATTTTTATATA AATATACAAAT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	292	0.0034	-210	c.275 others(19): Show c.275-16489_275-16280del		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PERM1_chr1_970198_987093	977630	CCCCCACC others(203): Show CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGA ACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGAC CAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCC AATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAAC CGCCTCCCAAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03130.hp1 HG03516.hp2 HG02976.hp1 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0002g0043 a0001c0001t0001g0100 a0001c0001t0002g0043	3	404	0.0074	-210	c.214 others(19): Show c.2149+1041_2150-1007del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PEX5_chr12_7184686_7216459	7196741	ATATATGT others(203): Show ATATATGTCACATATAATGTAATAATTATATATGTCACATATAATGTAAT AATTATATATGTCACATAATGTAATAATTATATATGTCACATATAATGTA ATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATATAA TGTAATAATTATATATGTCACATATAATGTAATAATTATATGTCACATAT AATGTAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG01123.hp2 others(4): Show HG00642.hp2 HG01099.hp1 HG01123.hp2 HG01433.hp1 HG03688.hp1 NA19002.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0072 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0126 a0001c0001t0001g0134	7	426	0.0164	-210	c.449 others(17): Show c.449-2202_449-1993del		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP6_chr16_365788_386978	378306	CGCCACCC others(203): Show CGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACTCTGACTG CCATCCCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCCACCCGC ACTGCCATCGCCACCCACACTGCCATCCCCACCCGCACTGCCATCGCCAC CCACACTGCCATCGCCACCCGCACTGCCATCGCCACTCTGACTGCCATCC CCACCCGCACT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02055.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	2	374	0.0053	-210	c.122 others(15): Show c.122-668_122-459del		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12						chr16	TogoVar
PIK3C2G_chr12_18256518_18653416	18369507	ATCGTATA others(203): Show ATCGTATAATTGACATACGATCATATAACGATCGTATAATTGACATATGA TCATATAACGATCGTATAATTGACATATGATCATATAACGATCGTATAAT TGACATATGATCATATAACGATCGTATAATTGACATATGATCATATAACG GTCGTATAATTGACATATGATCATATAACGGTCGTATAATTGACATATGA TCATATAACGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00735.hp2 others(22): Show HG00140.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp2 HG01243.hp2 HG01433.hp2 HG01517.hp2 HG01952.hp2 HG02080.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02976.hp2 HG03490.hp1 HG03540.hp1 NA18948.hp2 NA18955.hp1 NA18970.hp1 NA18977.hp2 NA18986.hp1 NA18995.hp1 NA19006.hp1 NA19085.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0010	a0001c0004 a0001c0021 a0002c0016 others(8): Show a0001c0004 a0001c0021 a0002c0016 a0002c0017 a0002c0019 a0003c0033 a0003c0035 a0003c0043 a0004c0034 a0005c0011 a0010c0049	a0001c0004t0001 a0001c0004t0003 a0001c0021t0001 others(10): Show a0001c0004t0001 a0001c0004t0003 a0001c0021t0001 a0001c0021t0004 a0002c0016t0001 a0002c0017t0001 a0002c0019t0001 a0003c0033t0004 a0003c0035t0002 a0003c0043t0001 a0004c0034t0001 a0005c0011t0001 a0010c0049t0002	a0001c0004t0001g0034 a0001c0004t0001g0053 a0001c0004t0001g0081 others(22): Show a0001c0004t0001g0034 a0001c0004t0001g0053 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0004t0003g0086 a0001c0021t0001g0173 a0001c0021t0004g0171 a0002c0016t0001g0127 a0002c0016t0001g0137 a0002c0017t0001g0109 a0002c0017t0001g0145 a0002c0019t0001g0125 a0002c0019t0001g0126 a0003c0033t0004g0090 a0003c0035t0002g0165 a0003c0043t0001g0083 a0004c0034t0001g0140 a0005c0011t0001g0047 a0010c0049t0002g0046	25	160	0.1563	-210	c.174 others(19): Show c.1749-1656_1749-1447del		PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHN1_chr1_961482_980865	977630	CCCCCACC others(203): Show CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGA ACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGAC CAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCC AATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAAC CGCCTCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03130.hp1 HG02976.hp1 HG03130.hp1	a0004 a0009 a0004 a0009	a0004c0028 a0009c0020 a0004c0028 a0009c0020	a0004c0028t0003 a0009c0020t0028 a0004c0028t0003 a0009c0020t0028	a0004c0028t0003g0002 a0009c0020t0028g0106 a0004c0028t0003g0002 a0009c0020t0028g0106	2	419	0.0048	-210	c.30 others(11): Show c.3056_*3265del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1766		chr1	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(203): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02451.hp2 others(6): Show HG02055.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02886.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0014 a0001c0001t0027 a0001c0001t0034 others(5): Show a0001c0001t0014 a0001c0001t0027 a0001c0001t0034 a0001c0001t0056 a0001c0001t0066 a0001c0001t0067 a0001c0001t0100 a0008c0008t0059	a0001c0001t0014g0009 a0001c0001t0027g0001 a0001c0001t0027g0002 others(6): Show a0001c0001t0014g0009 a0001c0001t0027g0001 a0001c0001t0027g0002 a0001c0001t0034g0005 a0001c0001t0056g0129 a0001c0001t0066g0007 a0001c0001t0067g0006 a0001c0001t0100g0132 a0008c0008t0059g0136	9	20	0.4500	-210	c.292 others(19): Show c.292-24842_292-24633del		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP1R16B_chr20_38800697_38928024	38895900	TCCTTCCT others(203): Show TCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCC TCCCTCCTTTCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTCTCC TCCCTTCCCCCCTTCCTTCTTTCTTTCCTCTCTTCCTTCTTTCTTTTCTC CCTTCCTCCCTTCCTTTCTTCCCTCCCTTCCTCCCTTTCTGCCTTTCTTC TGTCTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02895.hp2 HG00741.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0209 a0001c0002t0007g0205 a0001c0001t0001g0209 a0001c0002t0007g0205	2	242	0.0083	-210	c.467 others(15): Show c.467+210_467+419del		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PRIMA1_chr14_93713298_93793485	93722007	CTAGTGGT others(203): Show CTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGG GGTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02132.hp1 HG03130.hp1 others(3): Show HG02080.hp1 HG02132.hp1 HG03130.hp1 HG03704.hp1 NA18977.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 a0001c0002 a0001c0005 a0001c0006	a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 others(1): Show a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0008	a0001c0002t0001g0013 a0001c0002t0001g0092 a0001c0002t0001g0377 others(3): Show a0001c0002t0001g0013 a0001c0002t0001g0092 a0001c0002t0001g0377 a0001c0005t0001g0342 a0001c0006t0001g0231 a0001c0006t0008g0345	6	191	0.0314	-210	c.360 others(15): Show c.360-671_360-462del		PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4						chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722071	ATGGTGGT others(203): Show ATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGG TAATGGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp1 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0340 a0001c0006t0002g0197 a0001c0001t0002g0340 a0001c0006t0002g0197	2	268	0.0075	-210	c.360 others(15): Show c.360-735_360-526del		PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4						chr14	TogoVar
PRKCA_chr17_66297613_66815743	66798500	GTGGTGGT others(203): Show GTGGTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0109 a0001c0002t0015g0109	1	147	0.0068	-210	c.185 others(19): Show c.1855-5364_1855-5155del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799034	GTGGTGGT others(203): Show GTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0015 a0001c0002t0031g0015	1	157	0.0064	-210	c.185 others(19): Show c.1855-4827_1855-4618del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123341	ACGGTGGT others(203): Show ACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGT GGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCG TGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTG GTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGT GGTGGTTAGGG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19065.hp2 NA19004.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0145 a0001c0004t0001g0005 a0001c0004t0001g0145	2	280	0.0071	-210	c.335 others(19): Show c.335-11920_335-11711del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123343	GGTGGTGG others(203): Show GGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGG CGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGG TGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG06807.hp2 NA18956.hp1 HG02165.hp2 HG06807.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0030 a0001c0004t0002g0037 a0001c0004t0002g0038 a0001c0001t0002g0030 a0001c0004t0002g0037 a0001c0004t0002g0038	3	283	0.0106	-210	c.335 others(19): Show c.335-11903_335-11694del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123840	TGGTTAGG others(203): Show TGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCG GCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGTGGTTAGGGTCAC GGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGG TCGTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGG GTCACGGCGGC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	282	0.0035	-210	c.335 others(19): Show c.335-11412_335-11203del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113162224	CCATCCTC others(203): Show CCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG04199.hp1 HG02040.hp1 HG02071.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120	3	148	0.0203	-210	c.260 others(15): Show c.260-577_260-368del		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PTGES3L_chr17_42963103_42985080	42967115	TATATATA others(203): Show TATATATAAAATATATATTATATAATATATAATATAATATATAAAATATA TATTATATAATATATAATATAATATATAAAATATATATTATATAATATAT AATATAATATATAAAATATATATTATATAATATATAATATAATATATAAA ATATATATTATATAATATATAATATAATATATAAAATATATATTATATAA TATATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02257.hp2 others(13): Show HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02922.hp1 HG06807.hp1 NA18522.hp2 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0018 a0003c0003t0001g0032 a0003c0003t0001g0033 others(12): Show a0003c0003t0001g0018 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0209	16	321	0.0498	-210	c.18 others(11): Show c.1823_*2032del		PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding					987		chr17	TogoVar
RAB31_chr18_9703301_9867551	9815635	TAGATGCT others(203): Show TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATCCGTGG	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	317	0.0032	-210	c.380 others(15): Show c.380+413_380+622del		RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6						chr18	TogoVar
RAB31_chr18_9703301_9867551	9815810	TAGATGCT others(203): Show TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGGAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATCCGTGG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp2 NA18906.hp1 HG02970.hp2 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0036 a0001c0001t0001 a0001c0001t0028 a0001c0001t0036	a0001c0001t0001g0158 a0001c0001t0028g0250 a0001c0001t0036g0191 a0001c0001t0001g0158 a0001c0001t0028g0250 a0001c0001t0036g0191	3	318	0.0094	-210	c.380 others(15): Show c.380+623_380+832del		RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB7B_chr1_205971740_206008395	205981553	ACTGAACT others(203): Show ACTGAACTCCTACTGTGGTCTCTTTCAGAATGTTAACTGAACACCTACTC TGGTTTCTTTCACAATGTTAACTGAACACCTACTGTGGTCTCTTTCAGAA TATTAACTGAACACCTACTCTGGTTTCTTTCACAATGTTAACTGAACACC TACTGTGATTTCCTTCACAATGTTAACTGAACACCTACTCTGGTTTCTTT CAGAATGTTAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	328	0.0030	-210	c.523 others(17): Show c.523-2835_523-2626del		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	5/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205981630	ACCTACTG others(203): Show ACCTACTGTGGTCTCTTTCAGAATATTAACTGAACACCTACTCTGGTTTC TTTCACAATGTTAACTGAACACCTACTGTGATTTCCTTCACAATGTTAAC TGAACACCTACTCTGGTTTCTTTCAGAATGTTAGCTGAACACCTACTGTG GTCTCCTTCAGAATGTTAACTGAACACCTACTCTGGTTTCTTTCACAATG TTAACTGAACT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp2 HG02976.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0021 a0001c0003t0013 a0001c0003t0021	a0001c0003t0013g0032 a0001c0003t0021g0103 a0001c0003t0013g0032 a0001c0003t0021g0103	2	191	0.0105	-210	c.523 others(17): Show c.523-2912_523-2703del		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	5/5						chr1	TogoVar
RNF213_chr17_80255852_80403794	80314364	ATGGCGGT others(203): Show ATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGT GGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGG TGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTA ATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGAT GGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02897.hp2 others(2): Show HG01891.hp2 HG02109.hp2 HG02897.hp2 HG03486.hp2 NA18906.hp2	a0008 a0018 a0048 a0008 a0018 a0048	a0008c0013 a0018c0019 a0048c0136 a0008c0013 a0018c0019 a0048c0136	a0008c0013t0017 a0018c0019t0014 a0048c0136t0014 a0008c0013t0017 a0018c0019t0014 a0048c0136t0014	a0008c0013t0017g0250 a0018c0019t0014g0017 a0018c0019t0014g0034 others(2): Show a0008c0013t0017g0250 a0018c0019t0014g0017 a0018c0019t0014g0034 a0018c0019t0014g0278 a0048c0136t0014g0011	5	273	0.0183	-210	c.281 others(19): Show c.2811+1201_2811+1410del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1076525	TGGCTGAG others(203): Show TGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG02559.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	2	166	0.0120	-210	c.-27 others(11): Show c.-2729_-2520del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2220		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076945	AGGCTGAG others(203): Show AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGG AGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACT CCGTGAGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	301	0.0033	-210	c.-31 others(11): Show c.-3149_-2940del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2640		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077121	GGGGAGGC others(203): Show GGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGG GACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCCGTGCGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCTGTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	177	0.0056	-210	c.-33 others(11): Show c.-3325_-3116del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2816		chr1	TogoVar
RPTOR_chr17_80539838_80971368	80840922	ACACGGCA others(203): Show ACACGGCAGCTCACTCTCTCTGCACCGCAGCTCACACTCACCGCACGGCA GCTCACATTCACCACACGGCAACTCACTCTCACCACACGGCAGCTCACTC TCTCTGCACCGCAGCTCACACTCACCGCACGGCAGCTCACATTCACCACA CGGCAACTCACTCTCACCACACGGCAGCTCACTCTCTCTGCACCGCAGCT CACACTCACCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp1 HG02451.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0016 a0001c0005 a0001c0016	a0001c0005t0074 a0001c0016t0029 a0001c0005t0074 a0001c0016t0029	a0001c0005t0074g0009 a0001c0016t0029g0184 a0001c0005t0074g0009 a0001c0016t0029g0184	2	193	0.0104	-210	c.121 others(19): Show c.1212+2943_1212+3152del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80840947	CGCAGCTC others(203): Show CGCAGCTCACACTCACCGCACGGCAGCTCACATTCACCACACGGCAACTC ACTCTCACCACACGGCAGCTCACTCTCTCTGCACCGCAGCTCACACTCAC CGCACGGCAGCTCACATTCACCACACGGCAACTCACTCTCACCACACGGC AGCTCACTCTCTCTGCACCGCAGCTCACACTCACCGCACGGCAGCTCACT CTCACCGCACG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02258.hp2 HG02559.hp2 others(8): Show HG01255.hp2 HG02258.hp2 HG02559.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03486.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0001c0006 a0001c0012 others(6): Show a0001c0005 a0001c0006 a0001c0012 a0001c0016 a0001c0029 a0001c0056 a0001c0059 a0001c0089 a0005c0092	a0001c0005t0075 a0001c0006t0082 a0001c0006t0087 others(7): Show a0001c0005t0075 a0001c0006t0082 a0001c0006t0087 a0001c0012t0018 a0001c0016t0031 a0001c0029t0085 a0001c0056t0001 a0001c0059t0080 a0001c0089t0005 a0005c0092t0012	a0001c0005t0075g0008 a0001c0006t0082g0015 a0001c0006t0087g0013 others(8): Show a0001c0005t0075g0008 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0012t0018g0185 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0029t0085g0012 a0001c0056t0001g0075 a0001c0059t0080g0005 a0001c0089t0005g0159 a0005c0092t0012g0163	11	167	0.0659	-210	c.121 others(19): Show c.1212+2960_1212+3169del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4RL1_chr17_1929677_2030334	2013559	TGCTCCCT others(203): Show TGCTCCCTCACCCTGGAACATAAATACCCCAGCTCCCTCACCCTGGAACA TAAATACCCCAGCTCCCTCACCCTGGAACATAAATACCCCAGCTCTCTCA CCCTGGAACATAAATACCCCAGCTGTCTCACCCTGGAACATAAATACGCC AGCTCCCTCACCCTGGAACATAAATACCCCAGCTCCCTCACCCTGGAACA TAAATACCCCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02976.hp1 others(3): Show HG02109.hp2 HG02486.hp1 HG02976.hp1 HG03209.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0023 a0001c0001t0090 others(2): Show a0001c0001t0011 a0001c0001t0023 a0001c0001t0090 a0001c0001t0113 a0001c0002t0048	a0001c0001t0011g0217 a0001c0001t0023g0041 a0001c0001t0023g0295 others(3): Show a0001c0001t0011g0217 a0001c0001t0023g0041 a0001c0001t0023g0295 a0001c0001t0090g0216 a0001c0001t0113g0103 a0001c0002t0048g0019	6	223	0.0269	-210	c.13+ others(232): Show c.13+11084_13+11294delTGGGGTATTTATGTTCCAGGGTGAGGGA GCTGGGGTATTTATGTTCCAGGGTGAGGGAGCTGGCGTATTTATGTTCCA GGGTGAGACAGCTGGGGTATTTATGTTCCAGGGTGAGAGAGCTGGGGTAT TTATGTTCCAGGGTGAGGGAGCTGGGGTATTTATGTTCCAGGGTGAGGGA GCTGGGGTATTTATGTTCCAGGGTGAGGGAGCAinsG		RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1						chr17	TogoVar
RTN4RL1_chr17_1929677_2030334	2013559	TGCTCCCT others(203): Show TGCTCCCTCACCCTGGAACATAAATACCCCAGCTCCCTCACCCTGGAACA TAAATACCCCAGCTCCCTCACCCTGGAACATAAATACCCCAGCTCTCTCA CCCTGGAACATAAATACCCCAGCTGTCTCACCCTGGAACATAAATACGCC AGCTCCCTCACCCTGGAACATAAATACCCCAGCTCCCTCACCCTGGAACA TAAATACCCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19060.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0002c0005 a0003c0004 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0051 a0001c0001t0088 a0001c0001t0092 a0001c0001t0098 a0001c0001t0101 a0001c0001t0103 a0001c0001t0105 a0001c0001t0106 a0001c0001t0110 a0001c0001t0116 a0001c0001t0118 a0001c0001t0120 a0001c0001t0122 a0001c0001t0128 a0001c0001t0135 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0015 a0001c0002t0016 a0001c0002t0019 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0044 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0067 a0001c0002t0070 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083 a0001c0002t0085 a0001c0002t0108 a0001c0002t0138 a0001c0003t0014 a0001c0003t0018 a0001c0003t0026 a0001c0003t0052 a0001c0003t0130 a0001c0003t0131 a0001c0003t0132 a0001c0003t0133 a0001c0010t0010 a0002c0005t0112 a0003c0004t0063 a0004c0011t0011	a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0137 others(147): Show a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0265 a0001c0001t0002g0093 a0001c0001t0002g0117 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0279 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0210 a0001c0001t0003g0253 a0001c0001t0003g0274 a0001c0001t0003g0285 a0001c0001t0003g0299 a0001c0001t0005g0134 a0001c0001t0005g0292 a0001c0001t0005g0326 a0001c0001t0005g0362 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0036 a0001c0001t0006g0063 a0001c0001t0006g0239 a0001c0001t0006g0246 a0001c0001t0006g0252 a0001c0001t0006g0282 a0001c0001t0008g0091 a0001c0001t0008g0322 a0001c0001t0009g0118 a0001c0001t0009g0120 a0001c0001t0009g0187 a0001c0001t0009g0188 a0001c0001t0009g0189 a0001c0001t0009g0278 a0001c0001t0009g0304 a0001c0001t0011g0079 a0001c0001t0012g0066 a0001c0001t0012g0136 a0001c0001t0012g0256 a0001c0001t0012g0273 a0001c0001t0012g0280 a0001c0001t0013g0088 a0001c0001t0013g0095 a0001c0001t0013g0329 a0001c0001t0014g0237 a0001c0001t0014g0245 a0001c0001t0017g0211 a0001c0001t0019g0340 a0001c0001t0020g0122 a0001c0001t0020g0131 a0001c0001t0020g0255 a0001c0001t0021g0359 a0001c0001t0024g0184 a0001c0001t0024g0342 a0001c0001t0030g0258 a0001c0001t0031g0202 a0001c0001t0031g0376 a0001c0001t0051g0144 a0001c0001t0051g0301 a0001c0001t0088g0149 a0001c0001t0092g0298 a0001c0001t0098g0288 a0001c0001t0101g0145 a0001c0001t0103g0022 a0001c0001t0105g0345 a0001c0001t0106g0283 a0001c0001t0110g0249 a0001c0001t0116g0290 a0001c0001t0118g0072 a0001c0001t0120g0094 a0001c0001t0122g0319 a0001c0001t0128g0270 a0001c0001t0135g0330 a0001c0002t0004g0021 a0001c0002t0004g0049 a0001c0002t0004g0092 a0001c0002t0004g0170 a0001c0002t0004g0171 a0001c0002t0004g0191 a0001c0002t0004g0199 a0001c0002t0004g0357 a0001c0002t0007g0152 a0001c0002t0007g0259 a0001c0002t0010g0147 a0001c0002t0010g0151 a0001c0002t0015g0132 a0001c0002t0015g0168 a0001c0002t0015g0324 a0001c0002t0015g0325 a0001c0002t0015g0352 a0001c0002t0016g0343 a0001c0002t0016g0367 a0001c0002t0019g0190 a0001c0002t0019g0192 a0001c0002t0019g0193 a0001c0002t0027g0289 a0001c0002t0028g0109 a0001c0002t0028g0323 a0001c0002t0029g0155 a0001c0002t0029g0186 a0001c0002t0032g0148 a0001c0002t0033g0268 a0001c0002t0034g0236 a0001c0002t0037g0146 a0001c0002t0037g0261 a0001c0002t0038g0129 a0001c0002t0039g0001 a0001c0002t0041g0163 a0001c0002t0044g0174 a0001c0002t0058g0228 a0001c0002t0059g0328 a0001c0002t0060g0309 a0001c0002t0061g0089 a0001c0002t0067g0297 a0001c0002t0070g0286 a0001c0002t0073g0233 a0001c0002t0074g0153 a0001c0002t0075g0223 a0001c0002t0081g0209 a0001c0002t0082g0284 a0001c0002t0083g0169 a0001c0002t0085g0218 a0001c0002t0108g0162 a0001c0002t0138g0382 a0001c0003t0014g0040 a0001c0003t0014g0042 a0001c0003t0014g0130 a0001c0003t0014g0172 a0001c0003t0018g0053 a0001c0003t0018g0143 a0001c0003t0018g0156 a0001c0003t0018g0306 a0001c0003t0026g0333 a0001c0003t0052g0232 a0001c0003t0130g0364 a0001c0003t0131g0363 a0001c0003t0132g0039 a0001c0003t0133g0269 a0001c0010t0010g0321 a0002c0005t0112g0020 a0003c0004t0063g0102 a0004c0011t0011g0201	151	368	0.4103	-210	c.13+ others(17): Show c.13+11084_13+11293del		RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1						chr17	TogoVar
SARDH_chr9_133658560_133743352	133668837	CACCCTCC others(203): Show CACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTAC CCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCC TCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTT CCCTCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG03669.hp1 HG00099.hp2 HG01071.hp2 HG03669.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0007 a0013c0044 a0001c0001 a0001c0007 a0013c0044	a0001c0001t0001 a0001c0007t0001 a0013c0044t0001 a0001c0001t0001 a0001c0007t0001 a0013c0044t0001	a0001c0001t0001g0203 a0001c0007t0001g0079 a0013c0044t0001g0100 a0001c0001t0001g0203 a0001c0007t0001g0079 a0013c0044t0001g0100	3	256	0.0117	-210	c.249 others(19): Show c.2495+1537_2495+1746del		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368476	ATATATAA others(203): Show ATATATAAAATATATATATATTATATATATATATATAAAATATATATATA TTATATATATATATAAAATATATATATATTATATATATATAAAATATGTT ATATATATATATAAAATATGTTATATATATAATATATATGTTATATATAT ATATAATATATATGTTATATATATAAAATATATATATTATATATATATAA AATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(96): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00597.hp2 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0020 a0002c0010 a0006c0009 a0011c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0022 a0001c0001t0067 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0016 a0001c0002t0018 a0001c0002t0021 a0001c0002t0023 a0001c0002t0036 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0057 a0001c0002t0060 a0001c0002t0062 a0001c0002t0064 a0001c0002t0065 a0001c0002t0078 a0001c0002t0083 a0001c0008t0005 a0001c0008t0017 a0001c0020t0019 a0002c0010t0053 a0006c0009t0003 a0011c0019t0043	a0001c0001t0001g0170 a0001c0001t0003g0225 a0001c0001t0003g0236 others(95): Show a0001c0001t0001g0170 a0001c0001t0003g0225 a0001c0001t0003g0236 a0001c0001t0003g0248 a0001c0001t0004g0220 a0001c0001t0006g0206 a0001c0001t0011g0266 a0001c0001t0011g0271 a0001c0001t0022g0190 a0001c0001t0067g0210 a0001c0002t0001g0016 a0001c0002t0001g0031 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0134 a0001c0002t0001g0150 a0001c0002t0001g0164 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0002g0066 a0001c0002t0002g0070 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0172 a0001c0002t0006g0001 a0001c0002t0006g0023 a0001c0002t0006g0032 a0001c0002t0006g0034 a0001c0002t0006g0194 a0001c0002t0006g0196 a0001c0002t0007g0075 a0001c0002t0007g0092 a0001c0002t0007g0095 a0001c0002t0007g0101 a0001c0002t0007g0105 a0001c0002t0007g0106 a0001c0002t0007g0112 a0001c0002t0007g0113 a0001c0002t0007g0146 a0001c0002t0008g0077 a0001c0002t0008g0094 a0001c0002t0008g0107 a0001c0002t0008g0147 a0001c0002t0016g0069 a0001c0002t0016g0111 a0001c0002t0018g0079 a0001c0002t0018g0084 a0001c0002t0018g0115 a0001c0002t0021g0043 a0001c0002t0021g0044 a0001c0002t0023g0085 a0001c0002t0036g0065 a0001c0002t0044g0083 a0001c0002t0045g0187 a0001c0002t0046g0071 a0001c0002t0057g0161 a0001c0002t0060g0184 a0001c0002t0062g0189 a0001c0002t0064g0207 a0001c0002t0065g0208 a0001c0002t0078g0233 a0001c0002t0083g0232 a0001c0008t0005g0195 a0001c0008t0017g0098 a0001c0020t0019g0264 a0002c0010t0053g0051 a0006c0009t0003g0253 a0006c0009t0003g0257 a0011c0019t0043g0102	99	278	0.3561	-210	c.427 others(17): Show c.427+5104_427+5313del		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12						chr5	TogoVar
SHC2_chr19_411589_466033	426363	AGGCAGAG others(203): Show AGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGG AGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGGAGGGAGGACGACACC GAGAGAGGCAGAGTCCGGGGAGGGAGGACGACAGCACGAGAGGCAGAGTC CGGGGAGGGAGGACGACACCGAGAGAGGCAGAGTCCGGGGAGGGAGGACG ACACCGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp1 others(2): Show HG01884.hp1 HG02055.hp2 HG02258.hp1 HG03225.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0005t0006	a0001c0001t0002g0076 a0001c0001t0003g0032 a0001c0001t0003g0070 others(2): Show a0001c0001t0002g0076 a0001c0001t0003g0032 a0001c0001t0003g0070 a0001c0001t0013g0072 a0001c0005t0006g0009	5	207	0.0242	-210	c.117 others(19): Show c.1175-1342_1175-1133del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12						chr19	TogoVar
SHOX_chrX_625791_656584	636548	TATATATA others(203): Show TATATATAAACATATATACATATAAAGAAATATATATAAACATATATACA TATAAAATATACATATATAAACATATATATACATATAAAGAAATATATAT AAACATATATACATATAAAATATACATATATAAACATATATATACATAAA ATATATATATAAACATATATATACATAAAATATATATATAAACATATATA TACATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0071 a0001c0001t0027g0071	1	61	0.0164	-210	c.486 others(17): Show c.486+1730_486+1939del		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	402186	CGGCCCCG others(203): Show CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGA CCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACC CCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCT CACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCC CGCTCACCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	237	0.0042	-210	c.35 others(11): Show c.3500_*3709del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3529		chr11	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(203): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCG CCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTC CCCACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02922.hp2 HG03486.hp2 others(3): Show HG02129.hp1 HG02922.hp2 HG03486.hp2 HG03540.hp2 NA18945.hp1 NA18954.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0014 a0002c0002t0002 a0002c0002t0003 others(1): Show a0001c0001t0014 a0002c0002t0002 a0002c0002t0003 a0002c0005t0016	a0001c0001t0014g0060 a0001c0001t0014g0061 a0002c0002t0002g0049 others(3): Show a0001c0001t0014g0060 a0001c0001t0014g0061 a0002c0002t0002g0049 a0002c0002t0003g0186 a0002c0002t0003g0206 a0002c0005t0016g0002	6	37	0.1622	-210	c.212 others(17): Show c.212-3516_212-3307del		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
SMOC2_chr6_168436184_168672992	168594859	AGCTCCTC others(203): Show AGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATTGCC GAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGAT CTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGG ATGGCCGAGCT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19085.hp1 NA18973.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0070 a0001c0001t0001g0111	2	178	0.0112	-210	c.638 others(17): Show c.638-3958_638-3749del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12						chr6	TogoVar
SNTG2_chr2_945849_1372613	1222505	GGCGTCTC others(203): Show GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGT	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0060 a0003c0007t0001g0060	1	179	0.0056	-210	c.719 others(19): Show c.719+13329_719+13538del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222559	CGGTGCAG others(203): Show CGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02717.hp2 HG01517.hp1 HG02717.hp2	a0003 a0009 a0003 a0009	a0003c0008 a0009c0012 a0003c0008 a0009c0012	a0003c0008t0001 a0009c0012t0001 a0003c0008t0001 a0009c0012t0001	a0003c0008t0001g0190 a0009c0012t0001g0146 a0003c0008t0001g0190 a0009c0012t0001g0146	2	73	0.0274	-210	c.719 others(19): Show c.719+13439_719+13648del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
STK32C_chr10_132202492_132312950	132254408	GAGGAGAG others(203): Show GAGGAGAGTAAAATAAGCCTGCCGCAGGGCGCCGGGAATCAGCACTATGT CACCCCGGCACAATGCGTGCACCCTCCACGAAGGCTGCCCCCAGACCTGG GAGCCCAGGAGAGTAAAATAAGCCTGCCGCAGGGTGCCGGGAGTCAGCAC TATGTCACCCCGGCACAATGCGTGCACCCTCCACGAAGGCTGCCCCCAGA CCTGGGAGCCC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01074.hp2 others(34): Show HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01981.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp2 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp2 NA18963.hp1 NA19030.hp1 NA19043.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0020 a0003c0006 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0017 a0001c0005t0003 a0001c0011t0006 a0001c0020t0002 a0003c0006t0005 a0003c0006t0008 a0005c0019t0001	a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0064 others(34): Show a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0168 a0001c0001t0001g0189 a0001c0001t0001g0335 a0001c0001t0002g0112 a0001c0001t0002g0177 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0224 a0001c0001t0002g0293 a0001c0001t0004g0027 a0001c0001t0004g0102 a0001c0001t0009g0046 a0001c0001t0010g0029 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0056 a0001c0002t0002g0186 a0001c0002t0003g0175 a0001c0003t0001g0113 a0001c0003t0017g0191 a0001c0005t0003g0176 a0001c0011t0006g0006 a0001c0011t0006g0007 a0001c0020t0002g0284 a0003c0006t0005g0359 a0003c0006t0005g0362 a0003c0006t0008g0363 a0005c0019t0001g0110	37	358	0.1034	-210	c.263 others(17): Show c.263-8663_263-8454del		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11						chr10	TogoVar
STK32C_chr10_132202492_132312950	132254542	TGCCGGGA others(203): Show TGCCGGGAGTCAGCACTATGTCACCCCGGCACAATGCGTGCACCCTCCAC GAAGGCTGCCCCCAGACCTGGGAGCCCAGGAGAGTAAAATAAGCCTGCCG CAGGGCGCCGGGAATCAGCACTATGTCACCCCGGCACAATGCGTGCACCC TCCACGAAGGCTGCCCCCAGACCTGGGAGCCCAGGAGAGTAAAATAAGCC TGCCGCAGGGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	363	0.0028	-210	c.263 others(17): Show c.263-8797_263-8588del		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11						chr10	TogoVar
STK32C_chr10_132202492_132312950	132254550	GTCAGCAC others(203): Show GTCAGCACTATGTCACCCCGGCACAATGCGTGCACCCTCCACGAAGGCTG CCCCCAGACCTGGGAGCCCAGGAGAGTAAAATAAGCCTGCCGCAGGGCGC CGGGAATCAGCACTATGTCACCCCGGCACAATGCGTGCACCCTCCACGAA GGCTGCCCCCAGACCTGGGAGCCCAGGAGAGTAAAATAAGCCTGCCGCAG GGCGCCGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01952.hp2 HG01993.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0022 a0001c0025 a0002c0004 a0002c0021 a0003c0006 a0004c0015 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0007t0002 a0001c0007t0003 a0001c0009t0002 a0001c0010t0001 a0001c0010t0010 a0001c0010t0018 a0001c0011t0006 a0001c0013t0001 a0001c0014t0002 a0001c0022t0003 a0001c0025t0012 a0002c0004t0003 a0002c0021t0001 a0003c0006t0005 a0004c0015t0001 a0006c0018t0013	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0020 others(194): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0141 a0001c0001t0002g0149 a0001c0001t0002g0180 a0001c0001t0002g0198 a0001c0001t0002g0212 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0285 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0004g0208 a0001c0001t0004g0350 a0001c0001t0007g0234 a0001c0001t0007g0236 a0001c0001t0007g0260 a0001c0001t0014g0233 a0001c0001t0015g0348 a0001c0002t0002g0016 a0001c0002t0002g0062 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0139 a0001c0002t0002g0150 a0001c0002t0002g0173 a0001c0002t0002g0182 a0001c0002t0002g0223 a0001c0002t0002g0345 a0001c0002t0003g0015 a0001c0002t0003g0048 a0001c0002t0003g0097 a0001c0002t0003g0195 a0001c0002t0003g0243 a0001c0002t0003g0258 a0001c0002t0003g0268 a0001c0002t0003g0329 a0001c0002t0003g0343 a0001c0002t0003g0356 a0001c0002t0004g0282 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0184 a0001c0003t0001g0197 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0227 a0001c0003t0001g0239 a0001c0003t0001g0245 a0001c0003t0001g0265 a0001c0003t0001g0323 a0001c0003t0001g0342 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0255 a0001c0005t0001g0022 a0001c0005t0002g0231 a0001c0005t0003g0001 a0001c0005t0003g0049 a0001c0005t0003g0088 a0001c0005t0003g0294 a0001c0007t0002g0215 a0001c0007t0002g0319 a0001c0007t0003g0114 a0001c0007t0003g0185 a0001c0009t0002g0076 a0001c0009t0002g0279 a0001c0010t0001g0220 a0001c0010t0010g0357 a0001c0010t0018g0196 a0001c0011t0006g0005 a0001c0013t0001g0008 a0001c0014t0002g0009 a0001c0022t0003g0292 a0001c0025t0012g0004 a0002c0004t0003g0040 a0002c0004t0003g0105 a0002c0004t0003g0106 a0002c0004t0003g0119 a0002c0004t0003g0132 a0002c0004t0003g0277 a0002c0021t0001g0290 a0003c0006t0005g0360 a0003c0006t0005g0361 a0004c0015t0001g0219 a0006c0018t0013g0143	199	354	0.5621	-210	c.263 others(17): Show c.263-8805_263-8596del		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11						chr10	TogoVar
TCF25_chr16_89868592_89916379	89879136	GGGGCCTG others(203): Show GGGGCCTGTCATACGTGCTGTTCGTGTACACAGACGGGCTCCTGGGCCTA TCACCCGTGCTGTCCGTGTACACAGATGGGCTTCGGGGCCTGTCACACGT GTTGTCCGTGTGCACAGATGGGCTTCGGGGCCTGTCACACGTGTTGTCCG TGTACACAGACGGGCTTCAGAGCCTGTCACACGTGCTGTTCGTGTACACA GACGGGCTCCT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03669.hp2 HG03704.hp1 others(5): Show HG03239.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp2 NA18951.hp1 NA18979.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0001 a0001c0005t0004	a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0269 others(5): Show a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0005t0001g0263 a0001c0005t0001g0264 a0001c0005t0001g0265 a0001c0005t0001g0266 a0001c0005t0004g0268	8	298	0.0268	-210	c.193 others(17): Show c.193-4204_193-3995del		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89879457	ACACAGAT others(203): Show ACACAGATGGGCTTCGGGGCCTGTCACACGTGTTGTCCGTGTGCACAGAT GGGCTTCGGGGCCTGTCACACGTGTTGTCCGTGTGCACAGATGGGCTTCG GGGCCTGTCACACGTGTTGTCCGTGTGCACAGATGGGCTTCGGGGCCTGT CACACGTGTTGTCCGTGTGCACAGATGGGCTTCGGGGCCTGTCACACGTG TTGTCCGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(28): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01175.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG03491.hp2 HG03492.hp1 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18947.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18984.hp2 NA18990.hp2 NA19003.hp1 NA19070.hp2 NA19074.hp2 NA19087.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0007c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0003c0007t0001 a0007c0014t0001	a0001c0001t0001g0242 a0001c0002t0001g0022 a0001c0002t0001g0023 others(28): Show a0001c0001t0001g0242 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0005g0029 a0003c0007t0001g0048 a0007c0014t0001g0027	31	232	0.1336	-210	c.193 others(17): Show c.193-3667_193-3458del		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
TENM2_chr5_166974029_168269157	167974087	AAGGGAAG others(203): Show AAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAGGAAGGAAGGAAGGA AGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAA GGAAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGG AAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAGGAAGGAAGGA AGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp2 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0006 a0001c0001t0007 a0001c0005t0006	a0001c0001t0007g0001 a0001c0005t0006g0034 a0001c0001t0007g0001 a0001c0005t0006g0034	2	48	0.0417	-210	c.948 others(19): Show c.948-18856_948-18647del		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30						chr5	TogoVar

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