Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TPST2_chr22_26516996_26595132	26566764	T T	TAAAC TAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp2 HG02897.hp1 others(1): Show HG01109.hp2 HG02895.hp2 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0149 a0001c0001t0004g0162 a0001c0001t0008g0261 others(1): Show a0001c0001t0004g0149 a0001c0001t0004g0162 a0001c0001t0008g0261 a0001c0001t0008g0263	4	400	0.0100	4	c.-16 others(25): Show c.-160-22093_-160-22090dupGTTT	TPST2	ENSG00000128294.16	transcript	ENST00000338754.9	protein_coding	1/6			chr22	TogoVar
TPST2_chr22_26516996_26595132	26591890	T T	TACAC TACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01167.hp2 others(19): Show HG00639.hp1 HG00735.hp1 HG01167.hp2 HG01192.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02300.hp2 HG02970.hp1 HG03209.hp2 HG03831.hp2 HG04184.hp2 HG04204.hp2 NA18987.hp1 NA18992.hp1 NA19002.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0016 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0002t0008 a0001c0004t0007 a0001c0016t0007 a0002c0003t0001 a0002c0003t0007 a0002c0003t0012	a0001c0001t0002g0352 a0001c0001t0002g0357 a0001c0001t0003g0002 others(19): Show a0001c0001t0002g0352 a0001c0001t0002g0357 a0001c0001t0003g0002 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0165 a0001c0001t0007g0060 a0001c0001t0007g0166 a0001c0001t0007g0173 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0014g0350 a0001c0001t0014g0369 a0001c0002t0008g0345 a0001c0004t0007g0035 a0001c0016t0007g0172 a0002c0003t0001g0012 a0002c0003t0007g0157 a0002c0003t0007g0174 a0002c0003t0012g0011	22	400	0.0550	4	c.-20 others(15): Show c.-2002_-1999dupGTGT	TPST2	ENSG00000128294.16	transcript	ENST00000338754.9	protein_coding		1759		chr22	TogoVar
TPT1_chr13_45328471_45346183	45332229	C C	CAAAA CAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02257.hp1 others(3): Show HG01069.hp2 HG01071.hp1 HG02257.hp1 HG02630.hp1 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0010 a0001c0001t0006g0013 a0001c0001t0006g0014	6	368	0.0163	4	c.51 others(15): Show c.5156_*5157insTTTT	TPT1	ENSG00000133112.17	transcript	ENST00000530705.6	protein_coding		1241		chr13	TogoVar
TPTE2_chr13_19417877_19566532	19435755	G G	GACAC GACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00673.hp2 others(36): Show HG00099.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG02129.hp2 HG02135.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG03453.hp1 HG03492.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18940.hp1 NA19000.hp2 NA19009.hp2 NA19063.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0001t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0119 others(36): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0007t0001g0133	39	222	0.1757	4	c.111 others(21): Show c.1116+467_1116+470dupGTGT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	18/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19435791	C C	CACAT CACAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp2 HG01496.hp2 HG00280.hp2 HG01109.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0004g0198 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0004g0198	3	222	0.0135	4	c.111 others(21): Show c.1116+434_1116+435insATGT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	18/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19437038	G G	GACAC GACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01891.hp1 others(17): Show HG00735.hp1 HG01099.hp1 HG01891.hp1 HG02109.hp1 HG02257.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03540.hp1 NA18906.hp2 NA19030.hp1 NA20300.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0008 a0003c0011 others(2): Show a0001c0001 a0003c0008 a0003c0011 a0005c0005 a0006c0004	a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 a0003c0011t0001 a0005c0005t0001 a0006c0004t0002	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(17): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0187 a0001c0001t0002g0031 a0001c0001t0002g0046 a0003c0008t0001g0128 a0003c0011t0001g0126 a0005c0005t0001g0220 a0006c0004t0002g0032	20	222	0.0901	4	c.103 others(21): Show c.1036-736_1036-733dupGTGT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	17/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19443381	T T	TTTTC TTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04204.hp2 NA21309.hp2 HG03453.hp1 HG04204.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003	3	222	0.0135	4	c.974 others(21): Show c.974-5232_974-5229dupGAAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	16/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19443779	C C	CACAG CACAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01074.hp2 others(15): Show HG00639.hp2 HG00642.hp1 HG01074.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02809.hp2 HG02970.hp2 HG03471.hp1 HG03486.hp2 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0003 a0003c0008 others(2): Show a0001c0001 a0002c0003 a0003c0008 a0003c0011 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0002 a0003c0008t0001 a0003c0011t0001 a0008c0009t0002	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(15): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0036 a0001c0001t0002g0047 a0001c0001t0003g0016 a0002c0003t0002g0092 a0003c0008t0001g0128 a0003c0011t0001g0126 a0008c0009t0002g0045	18	222	0.0811	4	c.974 others(21): Show c.974-5627_974-5626insCTGT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	16/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19451841	G G	GTATA GTATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03491.hp2 HG03492.hp1 others(1): Show HG00323.hp1 HG03491.hp2 HG03492.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0095 others(1): Show a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0096	4	222	0.0180	4	c.742 others(19): Show c.742-617_742-616insTATA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	13/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19451843	G G	GTATA GTATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19240.hp1 HG02145.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0218 a0001c0001t0002g0101 a0001c0001t0001g0218 a0001c0001t0002g0101	2	222	0.0090	4	c.742 others(19): Show c.742-622_742-619dupTATA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	13/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19451843	G G	GTGTA GTGTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01106.hp2 HG01496.hp2 others(1): Show HG00621.hp1 HG01106.hp2 HG01496.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0002g0033 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0002g0033 a0001c0001t0004g0198	4	222	0.0180	4	c.742 others(19): Show c.742-619_742-618insTACA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	13/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19452951	T T	TTTTA TTTTA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp2 NA19043.hp1 HG02523.hp1 HG02523.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0002g0036 a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0002g0036	3	222	0.0135	4	c.742 others(21): Show c.742-1727_742-1726insTAAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	13/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19452991	T T	TTTTA TTTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00621.hp1 others(6): Show HG00438.hp1 HG00438.hp2 HG00621.hp1 HG01255.hp1 NA18944.hp1 NA18991.hp1 NA19030.hp2 NA19081.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0152 others(6): Show a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0012t0001g0159	9	222	0.0405	4	c.742 others(21): Show c.742-1770_742-1767dupTAAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	13/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19453538	C C	CATAT CATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01884.hp2 others(18): Show HG01109.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG04204.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0002 a0002c0002t0002 a0004c0006t0002 a0001c0001t0002 a0002c0002t0002 a0004c0006t0002	a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 others(18): Show a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0004c0006t0002g0064	21	222	0.0946	4	c.742 others(21): Show c.742-2317_742-2314dupATAT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	13/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19461933	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02135.hp2 HG02738.hp1 others(4): Show HG02055.hp1 HG02135.hp2 HG02738.hp1 NA18944.hp2 NA18968.hp2 NA18993.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0002g0075	7	222	0.0315	4	c.741 others(21): Show c.741+2519_741+2522dupAAAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	13/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19470887	T T	TTTTA TTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(44): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00733.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02723.hp2 HG03130.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18940.hp1 NA18995.hp1 NA19007.hp2 NA19009.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0012 others(1): Show a0001c0001 a0001c0007 a0001c0012 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0007t0001 a0001c0012t0001 a0002c0013t0001	a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 others(44): Show a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0002g0070 a0001c0001t0002g0102 a0001c0001t0004g0198 a0001c0007t0001g0133 a0001c0012t0001g0159 a0002c0013t0001g0125	47	222	0.2117	4	c.392 others(21): Show c.392+3023_392+3026dupTAAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	9/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19474078	A A	AAAAT AAAAT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG01884.hp2 HG01891.hp1 others(8): Show HG00735.hp1 HG01884.hp2 HG01891.hp1 HG02165.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02895.hp1 HG03209.hp2 NA18906.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 others(8): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0002g0003 a0001c0001t0002g0038 a0002c0002t0002g0050 a0002c0002t0002g0061 a0002c0002t0002g0065	11	222	0.0496	4	c.231 others(15): Show c.231-7_231-4dupATTT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	8/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19489780	G G	GATAT GATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(171): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18968.hp1 NA18968.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0007 a0001c0012 others(10): Show a0001c0001 a0001c0007 a0001c0012 a0001c0014 a0002c0002 a0002c0003 a0003c0008 a0003c0011 a0004c0006 a0005c0005 a0006c0004 a0007c0010 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0007t0001 a0001c0012t0001 a0001c0014t0002 a0002c0002t0002 a0002c0003t0002 a0003c0008t0001 a0003c0011t0001 a0004c0006t0002 a0005c0005t0001 a0006c0004t0002 a0007c0010t0001 a0008c0009t0002	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(171): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0004g0198 a0001c0007t0001g0133 a0001c0012t0001g0159 a0001c0014t0002g0072 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0003t0002g0091 a0002c0003t0002g0092 a0002c0003t0002g0093 a0003c0008t0001g0128 a0003c0011t0001g0126 a0004c0006t0002g0064 a0005c0005t0001g0220 a0006c0004t0002g0032 a0007c0010t0001g0136 a0008c0009t0002g0045	174	222	0.7838	4	c.119 others(21): Show c.119+3069_119+3070insATAT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	6/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19493317	G G	GTGGA GTGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(81): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02970.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp2 NA18944.hp2 NA18968.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0012 a0002c0002 others(4): Show a0001c0001 a0001c0012 a0002c0002 a0002c0003 a0003c0008 a0005c0005 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 a0002c0002t0001 a0002c0003t0002 a0003c0008t0001 a0005c0005t0001 a0008c0009t0002	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(81): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0012t0001g0159 a0002c0002t0001g0129 a0002c0003t0002g0092 a0003c0008t0001g0128 a0005c0005t0001g0220 a0008c0009t0002g0045	84	222	0.3784	4	c.65+ others(17): Show c.65+127_65+130dupTCCA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	5/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19506160	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG01167.hp2 others(21): Show HG00323.hp1 HG00621.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01433.hp2 HG01496.hp1 HG02135.hp2 HG02165.hp2 HG02630.hp2 HG02698.hp2 HG02895.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp1 NA18993.hp2 NA19009.hp2 NA19063.hp2 NA19086.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0034 others(21): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0104 a0002c0003t0002g0093	24	222	0.1081	4	c.-43 others(21): Show c.-43-2887_-43-2884dupAAAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19507304	T T	TAAAA TAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01106.hp1 HG01361.hp2 others(7): Show HG00621.hp2 HG01106.hp1 HG01361.hp2 HG01515.hp1 HG02970.hp1 HG03927.hp1 HG04115.hp1 NA18993.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0115 a0001c0001t0002g0004 a0001c0001t0002g0005 others(7): Show a0001c0001t0001g0115 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0068	10	222	0.0451	4	c.-43 others(21): Show c.-43-4031_-43-4028dupTTTT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19514592	A A	AGTGT AGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp2 HG02622.hp1 others(1): Show HG01099.hp1 HG01496.hp2 HG02622.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0002g0076 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0002g0076 a0001c0001t0004g0198	4	222	0.0180	4	c.-43 others(23): Show c.-43-11319_-43-11316dupACAC	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19535611	C C	CTTAT CTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02717.hp1 others(3): Show HG01891.hp1 HG02109.hp1 HG02717.hp1 HG03209.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(3): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0066	6	222	0.0270	4	c.-44 others(23): Show c.-44+16956_-44+16959dupATAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19544060	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 HG02717.hp1 others(2): Show HG02135.hp2 HG02602.hp1 HG02717.hp1 HG02886.hp1 HG02970.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 a0001c0001t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0001g0115 a0001c0001t0002g0066 a0001c0001t0002g0075 others(2): Show a0001c0001t0001g0115 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0103 a0005c0005t0001g0220	5	222	0.0225	4	c.-44 others(21): Show c.-44+8507_-44+8510dupTTTT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19544934	T T	TCACA TCACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG04184.hp1 HG02109.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0033 a0001c0001t0003g0016 a0001c0001t0002g0033 a0001c0001t0003g0016	2	222	0.0090	4	c.-44 others(21): Show c.-44+7633_-44+7636dupTGTG	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19547720	C C	CATAT CATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01884.hp2 others(15): Show HG01109.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0002 a0002c0002t0002 a0004c0006t0002 a0001c0001t0002 a0002c0002t0002 a0004c0006t0002	a0001c0001t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 others(15): Show a0001c0001t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0004c0006t0002g0064	18	222	0.0811	4	c.-44 others(21): Show c.-44+4847_-44+4850dupATAT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19554377	A A	AAAAT AAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00735.hp1 others(15): Show HG00280.hp1 HG00642.hp1 HG00735.hp1 HG01891.hp1 HG02109.hp1 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(15): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0202 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0002c0002t0001g0117 a0002c0002t0001g0118	18	222	0.0811	4	c.-14 others(23): Show c.-146-1708_-146-1705dupATTT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	2/22			chr13	TogoVar
TPTE_chr21_10516583_10610716	10516878	T T	TTATC TTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01123.hp1 others(15): Show HG00738.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01257.hp1 HG01516.hp2 HG01928.hp1 HG02004.hp1 HG02300.hp2 NA18953.hp1 NA18963.hp1 NA18970.hp2 NA18971.hp2 NA18997.hp2 NA19002.hp2 NA19003.hp2 NA19085.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0018	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005 a0018c0022	a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 others(3): Show a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0003c0004t0003 a0004c0005t0001 a0018c0022t0003	a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0090 others(14): Show a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0005g0047 a0002c0002t0001g0149 a0002c0002t0001g0166 a0002c0002t0001g0186 a0003c0004t0003g0025 a0003c0004t0003g0032 a0003c0004t0003g0035 a0003c0004t0003g0036 a0003c0004t0003g0054 a0004c0005t0001g0155 a0004c0005t0001g0157 a0004c0005t0001g0191 a0018c0022t0003g0064	18	209	0.0861	4	c.-50 others(15): Show c.-5027_-5026insTATC	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding		4704		chr21	TogoVar
TPTE_chr21_10516583_10610716	10516922	G G	GTATC GTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG03098.hp2 HG02056.hp1 HG03098.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0016 a0001c0001 a0012c0016	a0001c0001t0004 a0012c0016t0001 a0001c0001t0004 a0012c0016t0001	a0001c0001t0004g0012 a0012c0016t0001g0184 a0001c0001t0004g0012 a0012c0016t0001g0184	2	209	0.0096	4	c.-49 others(15): Show c.-4983_-4982insTATC	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding		4660		chr21	TogoVar
TPTE_chr21_10516583_10610716	10518274	C C	CAAAA CAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG02040.hp2 others(15): Show HG00423.hp1 HG00544.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02683.hp2 HG03688.hp1 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18953.hp2 NA18963.hp2 NA18973.hp1 NA18975.hp2 NA19055.hp2 NA19056.hp1 NA19064.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0002c0002 a0001c0003 a0001c0010 a0002c0002	a0001c0003t0002 a0001c0003t0011 a0001c0010t0002 others(2): Show a0001c0003t0002 a0001c0003t0011 a0001c0010t0002 a0002c0002t0001 a0002c0002t0007	a0001c0003t0002g0001 a0001c0003t0002g0100 a0001c0003t0002g0101 others(13): Show a0001c0003t0002g0001 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0103 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0111 a0001c0003t0002g0113 a0001c0003t0002g0115 a0001c0003t0002g0117 a0001c0003t0011g0112 a0001c0010t0002g0114 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0007g0003	18	209	0.0861	4	c.-36 others(15): Show c.-3631_-3630insAAAA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding		3308		chr21	TogoVar
TPTE_chr21_10516583_10610716	10518571	T T	TCAAA TCAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA19043.hp2 NA19072.hp2 NA18612.hp1 NA19043.hp2 NA19072.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0006 a0005c0006t0002 a0001c0001t0006 a0005c0006t0002	a0001c0001t0006g0097 a0005c0006t0002g0134 a0005c0006t0002g0135 a0001c0001t0006g0097 a0005c0006t0002g0134 a0005c0006t0002g0135	3	209	0.0144	4	c.-33 others(15): Show c.-3334_-3333insCAAA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding		3011		chr21	TogoVar
TPTE_chr21_10516583_10610716	10527157	T T	TCACA TCACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01346.hp2 HG01928.hp1 others(5): Show HG01123.hp1 HG01346.hp2 HG01928.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02886.hp2 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0011c0015	a0001c0001t0006 a0002c0002t0001 a0004c0005t0001 others(1): Show a0001c0001t0006 a0002c0002t0001 a0004c0005t0001 a0011c0015t0001	a0001c0001t0006g0097 a0001c0001t0006g0099 a0002c0002t0001g0149 others(5): Show a0001c0001t0006g0097 a0001c0001t0006g0099 a0002c0002t0001g0149 a0004c0005t0001g0145 a0004c0005t0001g0154 a0004c0005t0001g0155 a0004c0005t0001g0157 a0011c0015t0001g0156	8	209	0.0383	4	c.-10 others(21): Show c.-101-187_-101-184dupCACA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10528018	T T	TAAAG TAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp1 others(50): Show HG00423.hp1 HG00544.hp2 HG00597.hp1 HG01169.hp1 HG01256.hp2 HG01346.hp1 HG01496.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02280.hp1 HG02280.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp2 HG03516.hp2 HG03688.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18953.hp2 NA18955.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp2 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19006.hp2 NA19043.hp1 NA19043.hp2 NA19072.hp2 NA19082.hp1 NA19085.hp1	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0013 a0015 a0017 a0019	a0001c0001 a0001c0003 a0001c0010 others(7): Show a0001c0001 a0001c0003 a0001c0010 a0001c0012 a0005c0006 a0006c0007 a0013c0025 a0015c0014 a0017c0011 a0019c0013	a0001c0001t0006 a0001c0003t0002 a0001c0003t0011 others(8): Show a0001c0001t0006 a0001c0003t0002 a0001c0003t0011 a0001c0010t0002 a0001c0012t0002 a0005c0006t0002 a0006c0007t0002 a0013c0025t0002 a0015c0014t0002 a0017c0011t0002 a0019c0013t0002	a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0003t0002g0001 others(47): Show a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0003t0002g0001 a0001c0003t0002g0009 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0111 a0001c0003t0002g0113 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0137 a0001c0003t0011g0112 a0001c0010t0002g0114 a0001c0012t0002g0129 a0005c0006t0002g0130 a0005c0006t0002g0131 a0005c0006t0002g0132 a0005c0006t0002g0133 a0005c0006t0002g0134 a0005c0006t0002g0135 a0005c0006t0002g0138 a0005c0006t0002g0140 a0005c0006t0002g0141 a0005c0006t0002g0142 a0005c0006t0002g0197 a0006c0007t0002g0139 a0006c0007t0002g0143 a0006c0007t0002g0144 a0013c0025t0002g0119 a0015c0014t0002g0104 a0017c0011t0002g0105 a0019c0013t0002g0110	53	209	0.2536	4	c.-44 others(19): Show c.-44+608_-44+609insAGAA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10542530	C C	CCCAT CCCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp1 HG01169.hp2 others(19): Show HG00099.hp2 HG01099.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp1 HG02135.hp1 HG02630.hp2 HG02683.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp1 HG03225.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp1 HG06807.hp2 NA18941.hp1 NA18970.hp2 NA18971.hp2 NA19011.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0013	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0007c0008 a0013c0025	a0001c0001t0004 a0001c0003t0002 a0003c0004t0003 others(2): Show a0001c0001t0004 a0001c0003t0002 a0003c0004t0003 a0007c0008t0004 a0013c0025t0002	a0001c0001t0004g0006 a0001c0001t0004g0065 a0001c0001t0004g0067 others(18): Show a0001c0001t0004g0006 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0003c0004t0003g0032 a0007c0008t0004g0073 a0007c0008t0004g0074 a0013c0025t0002g0119	22	209	0.1053	4	c.119 others(19): Show c.119+111_119+114dupCCAT	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10544181	A A	AAATG AAATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp1 others(52): Show HG00423.hp1 HG00544.hp2 HG00597.hp1 HG01169.hp1 HG01256.hp2 HG01346.hp1 HG01496.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02280.hp1 HG02280.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp2 HG03688.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18953.hp2 NA18955.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp2 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19006.hp2 NA19043.hp1 NA19043.hp2 NA19072.hp2 NA19082.hp1 NA19085.hp1	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0008 a0013 a0015 a0017 a0019	a0001c0001 a0001c0003 a0001c0010 others(8): Show a0001c0001 a0001c0003 a0001c0010 a0001c0012 a0005c0006 a0006c0007 a0008c0009 a0013c0025 a0015c0014 a0017c0011 a0019c0013	a0001c0001t0006 a0001c0003t0002 a0001c0003t0011 others(10): Show a0001c0001t0006 a0001c0003t0002 a0001c0003t0011 a0001c0010t0002 a0001c0012t0002 a0005c0006t0002 a0006c0007t0002 a0008c0009t0008 a0008c0009t0009 a0013c0025t0002 a0015c0014t0002 a0017c0011t0002 a0019c0013t0002	a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0003t0002g0001 others(49): Show a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0003t0002g0001 a0001c0003t0002g0009 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0111 a0001c0003t0002g0113 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0137 a0001c0003t0011g0112 a0001c0010t0002g0114 a0001c0012t0002g0129 a0005c0006t0002g0130 a0005c0006t0002g0131 a0005c0006t0002g0132 a0005c0006t0002g0133 a0005c0006t0002g0134 a0005c0006t0002g0135 a0005c0006t0002g0138 a0005c0006t0002g0140 a0005c0006t0002g0141 a0005c0006t0002g0142 a0005c0006t0002g0197 a0006c0007t0002g0139 a0006c0007t0002g0143 a0006c0007t0002g0144 a0008c0009t0008g0016 a0008c0009t0009g0015 a0013c0025t0002g0119 a0015c0014t0002g0104 a0017c0011t0002g0105 a0019c0013t0002g0110	55	209	0.2632	4	c.173 others(19): Show c.173+801_173+804dupATGA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10545635	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp1 HG01169.hp2 others(31): Show HG00099.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG02135.hp1 HG02280.hp1 HG02280.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19072.hp2	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0013 a0014	a0001c0001 a0001c0003 a0005c0006 others(3): Show a0001c0001 a0001c0003 a0005c0006 a0007c0008 a0013c0025 a0014c0024	a0001c0001t0004 a0001c0001t0006 a0001c0003t0002 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0003t0002 a0005c0006t0002 a0007c0008t0004 a0013c0025t0002 a0014c0024t0004	a0001c0001t0004g0006 a0001c0001t0004g0065 a0001c0001t0004g0067 others(29): Show a0001c0001t0004g0006 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0089 a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0003t0002g0009 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0137 a0005c0006t0002g0130 a0005c0006t0002g0131 a0005c0006t0002g0132 a0005c0006t0002g0134 a0005c0006t0002g0135 a0005c0006t0002g0138 a0005c0006t0002g0141 a0005c0006t0002g0197 a0007c0008t0004g0073 a0007c0008t0004g0074 a0013c0025t0002g0119 a0014c0024t0004g0088	34	209	0.1627	4	c.173 others(21): Show c.173+2267_173+2270dupCACA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10554119	A A	ATTAC ATTAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01169.hp2 others(33): Show HG00099.hp2 HG00733.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01516.hp1 HG01517.hp1 HG02027.hp1 HG02129.hp2 HG02135.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp1 NA18940.hp2 NA18941.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA19011.hp2 NA21309.hp2	a0001 a0007 a0014 a0001 a0007 a0014	a0001c0001 a0007c0008 a0014c0024 a0001c0001 a0007c0008 a0014c0024	a0001c0001t0004 a0007c0008t0004 a0014c0024t0004 a0001c0001t0004 a0007c0008t0004 a0014c0024t0004	a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0011 others(31): Show a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0007c0008t0004g0073 a0007c0008t0004g0074 a0014c0024t0004g0088	36	209	0.1723	4	c.233 others(21): Show c.233+1406_233+1407insCTTA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10573059	T T	TAAAA TAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02056.hp2 HG02071.hp1 others(5): Show HG01346.hp1 HG02056.hp2 HG02071.hp1 HG02647.hp2 HG03098.hp1 HG06807.hp2 NA18942.hp2 NA18955.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0003 a0001c0012 a0005c0006 others(1): Show a0001c0003 a0001c0012 a0005c0006 a0006c0007	a0001c0003t0002 a0001c0012t0002 a0005c0006t0002 others(1): Show a0001c0003t0002 a0001c0012t0002 a0005c0006t0002 a0006c0007t0002	a0001c0003t0002g0121 a0001c0003t0002g0124 a0001c0012t0002g0129 others(5): Show a0001c0003t0002g0121 a0001c0003t0002g0124 a0001c0012t0002g0129 a0005c0006t0002g0132 a0005c0006t0002g0140 a0006c0007t0002g0139 a0006c0007t0002g0143 a0006c0007t0002g0144	8	209	0.0383	4	c.795 others(21): Show c.795+2521_795+2524dupAAAA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10576838	C C	CATAT CATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp1 HG02300.hp1 others(3): Show HG01496.hp1 HG02273.hp1 HG02300.hp1 HG06807.hp2 NA18993.hp2 NA19085.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0002 a0004c0005 a0001c0003 a0002c0002 a0004c0005	a0001c0003t0002 a0002c0002t0001 a0004c0005t0001 a0001c0003t0002 a0002c0002t0001 a0004c0005t0001	a0001c0003t0002g0113 a0001c0003t0002g0120 a0001c0003t0002g0121 others(3): Show a0001c0003t0002g0113 a0001c0003t0002g0120 a0001c0003t0002g0121 a0002c0002t0001g0172 a0002c0002t0001g0189 a0004c0005t0001g0187	6	209	0.0287	4	c.796 others(19): Show c.796-586_796-583dupTATA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10584879	A A	AGTGT AGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03098.hp2 NA18941.hp2 others(8): Show HG02129.hp2 HG03098.hp2 NA18941.hp2 NA18953.hp2 NA18964.hp2 NA18967.hp1 NA18995.hp2 NA19006.hp2 NA19043.hp2 NA19082.hp1 NA21309.hp2	a0001 a0015 a0017 a0001 a0015 a0017	a0001c0001 a0001c0003 a0015c0014 others(1): Show a0001c0001 a0001c0003 a0015c0014 a0017c0011	a0001c0001t0004 a0001c0001t0006 a0001c0003t0002 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0003t0002 a0015c0014t0002 a0017c0011t0002	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0066 others(8): Show a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0066 a0001c0001t0006g0097 a0001c0003t0002g0098 a0001c0003t0002g0102 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0116 a0015c0014t0002g0104 a0017c0011t0002g0105	11	209	0.0526	4	c.102 others(23): Show c.1028-5550_1028-5547dupGTGT	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10592805	G G	GGTGT GGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00733.hp1 others(30): Show HG00099.hp2 HG00544.hp1 HG00733.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG02027.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03195.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp1 NA18940.hp2 NA18941.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18997.hp2 NA19011.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0014 a0018	a0001c0001 a0002c0002 a0007c0008 others(2): Show a0001c0001 a0002c0002 a0007c0008 a0014c0024 a0018c0022	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0007c0008t0004 a0014c0024t0004 a0018c0022t0003	a0001c0001t0001g0159 a0001c0001t0004g0006 a0001c0001t0004g0065 others(29): Show a0001c0001t0001g0159 a0001c0001t0004g0006 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0002c0002t0001g0146 a0007c0008t0004g0073 a0007c0008t0004g0074 a0014c0024t0004g0088 a0018c0022t0003g0064	33	209	0.1579	4	c.117 others(21): Show c.1170+457_1170+460dupGTGT	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10599799	T T	TTTAG TTTAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19056.hp1 NA19064.hp1 HG03225.hp1 NA19056.hp1 NA19064.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0025 a0002c0002 a0013c0025	a0002c0002t0007 a0013c0025t0002 a0002c0002t0007 a0013c0025t0002	a0002c0002t0007g0003 a0013c0025t0002g0119 a0002c0002t0007g0003 a0013c0025t0002g0119	3	209	0.0144	4	c.135 others(23): Show c.1356+1732_1356+1735dupAGTT	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPX2_chr20_31734290_31806800	31747436	C C	CTCTG CTCTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18953.hp2 NA20905.hp1 HG02015.hp1 NA18953.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0002c0005t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0002c0005t0001g0008	3	270	0.0111	4	c.-71 others(21): Show c.-71+4813_-71+4816dupGTCT	TPX2	ENSG00000088325.16	transcript	ENST00000300403.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TPX2_chr20_31734290_31806800	31750452	C C	CTATT CTATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01255.hp2 HG01256.hp1 others(17): Show HG01099.hp2 HG01255.hp2 HG01256.hp1 HG01952.hp2 HG01975.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02273.hp2 HG02683.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 NA18970.hp2 NA19057.hp1 NA19062.hp2 NA19081.hp2 NA19090.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0005 a0001c0001 a0001c0014 a0002c0005	a0001c0001t0001 a0001c0014t0001 a0002c0005t0001 a0001c0001t0001 a0001c0014t0001 a0002c0005t0001	a0001c0001t0001g0033 a0001c0001t0001g0083 a0001c0001t0001g0084 others(17): Show a0001c0001t0001g0033 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0014t0001g0212 a0002c0005t0001g0006 a0002c0005t0001g0007	20	270	0.0741	4	c.-70 others(21): Show c.-70-6915_-70-6912dupTTAT	TPX2	ENSG00000088325.16	transcript	ENST00000300403.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TPX2_chr20_31734290_31806800	31766454	G G	GGTGT GGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01168.hp2 others(25): Show HG00741.hp2 HG01099.hp1 HG01168.hp2 HG01358.hp1 HG01361.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03225.hp1 HG03688.hp1 HG03710.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0002 a0001c0007t0001	a0001c0001t0001g0043 a0001c0001t0001g0088 a0001c0001t0001g0097 others(25): Show a0001c0001t0001g0043 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0209 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0140 a0001c0002t0001g0261 a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0018 a0001c0003t0001g0111 a0001c0003t0003g0023 a0001c0004t0002g0133 a0001c0004t0002g0137 a0001c0004t0002g0145 a0001c0004t0002g0176 a0001c0004t0002g0179 a0001c0007t0001g0031 a0001c0007t0001g0032	28	270	0.1037	4	c.230 others(17): Show c.230-63_230-60dupGTGT	TPX2	ENSG00000088325.16	transcript	ENST00000300403.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TPX2_chr20_31734290_31806800	31776050	G G	GTTTT GTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01993.hp2 others(3): Show HG00738.hp2 HG01070.hp1 HG01993.hp2 HG02040.hp2 HG04204.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0116 a0001c0001t0001g0216	6	270	0.0222	4	c.730 others(19): Show c.730+100_730+103dupTTTT	TPX2	ENSG00000088325.16	transcript	ENST00000300403.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TPX2_chr20_31734290_31806800	31782889	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG02622.hp1 others(2): Show HG00099.hp1 HG00733.hp1 HG02622.hp1 HG02630.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0228 a0001c0001t0001g0229 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230	5	270	0.0185	4	c.119 others(21): Show c.1196+539_1196+542dupCACA	TPX2	ENSG00000088325.16	transcript	ENST00000300403.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TPX2_chr20_31734290_31806800	31794755	A A	AGTGT AGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(21): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01168.hp2 HG01243.hp1 HG01358.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp2 HG02258.hp1 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG03704.hp2 HG03710.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0004t0002 a0003c0009t0001	a0001c0001t0001g0059 a0001c0001t0001g0200 a0001c0002t0001g0121 others(21): Show a0001c0001t0001g0059 a0001c0001t0001g0200 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0128 a0001c0002t0001g0147 a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0001g0261 a0001c0002t0006g0120 a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0022 a0001c0003t0001g0111 a0001c0004t0002g0133 a0003c0009t0001g0103	24	270	0.0889	4	c.183 others(21): Show c.1833+240_1833+243dupGTGT	TPX2	ENSG00000088325.16	transcript	ENST00000300403.11	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TRA2A_chr7_23499780_23536981	23505585	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG03041.hp1 others(3): Show HG02055.hp2 HG02559.hp1 HG03041.hp1 HG03486.hp1 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0005g0275 a0001c0001t0005g0280 a0001c0001t0006g0026 others(3): Show a0001c0001t0005g0275 a0001c0001t0005g0280 a0001c0001t0006g0026 a0001c0001t0006g0028 a0001c0001t0007g0250 a0001c0001t0012g0065	6	399	0.0150	4	c.839 others(17): Show c.839-20_839-17dupTTTT	TRA2A	ENSG00000164548.12	transcript	ENST00000297071.9	protein_coding	7/7			chr7	TogoVar
TRA2B_chr3_185909558_185943014	185914315	C C	CCACA CCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02027.hp2 HG02080.hp1 others(7): Show HG00558.hp1 HG02027.hp2 HG02080.hp1 HG02165.hp1 HG02970.hp1 HG02976.hp2 NA18947.hp2 NA18993.hp2 NA19009.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0051	10	434	0.0230	4	c.33 others(15): Show c.3399_*3400insTGTG	TRA2B	ENSG00000136527.19	transcript	ENST00000453386.7	protein_coding		242		chr3	TogoVar

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