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
MED16_chr19_862963_898187	873052	GGTGGGGC others(101): Show GGTGGGGCAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCT CCGAGGTGGGGCAGGGCTCCGAGATGGGGCAGGGCTCCGAGGTGGGGCAG GGCTAGGAA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	53	0.0189	-108	c.190 others(17): Show c.1905+289_1905+396del	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MED16_chr19_862963_898187	873070	GGTGGGGG others(101): Show GGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGCAGGGCT CCGAGATGGGGCAGGGCTCCGAGGTGGGGCAGGGCTAGGAAGTGGGGCAG GGCTAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04199.hp1 NA18970.hp2 HG02735.hp2 HG04199.hp1 NA18970.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0001c0014 a0009c0024 a0001c0004 a0001c0014 a0009c0024	a0001c0004t0001 a0001c0014t0003 a0009c0024t0003 a0001c0004t0001 a0001c0014t0003 a0009c0024t0003	a0001c0004t0001g0054 a0001c0014t0003g0002 a0009c0024t0003g0001 a0001c0004t0001g0054 a0001c0014t0003g0002 a0009c0024t0003g0001	3	54	0.0556	-108	c.190 others(17): Show c.1905+271_1905+378del	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MEIKIN_chr5_131801990_131950663	131849356	GAACCTCT others(101): Show GAACCTCTTTTCTTTATATATATAAAGAAACCTCTTTTCTTTATATATAT AAAGAAACCTCTTTTCTTTATATATATAAAGAAACCTCTTTTCTTTATAT ATATAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG01069.hp1 others(34): Show HG00621.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01884.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 NA18612.hp1 NA18906.hp1 NA18955.hp2 NA19030.hp1 NA19043.hp1 NA19075.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0006t0002	a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0060 others(32): Show a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0110 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0191 a0001c0002t0001g0006 a0001c0002t0001g0264 a0001c0002t0001g0290 a0001c0002t0001g0294 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0006t0002g0038	37	63	0.5873	-108	c.975 others(17): Show c.975+1800_975+1907del	MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	11/12			chr5	TogoVar
MEIS2_chr15_36884204_37105549	36995956	GATATATA others(101): Show GATATATATATATATATATATATATATATATATATATATATATATATGTA TATATATATACATATGTGTATATATATACACACACACACACATATATATA TACACACAC	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	84	0.0119	-108	c.900 others(19): Show c.900+40750_900+40857del	MEIS2	ENSG00000134138.22	transcript	ENST00000561208.6	protein_coding	8/11			chr15	TogoVar
METTL24_chr6_110238940_110363349	110335475	CTTACAAT others(101): Show CTTACAATGAAAAAAGCAGTTACAGAATACAAAAGACACAAACAATTTCA AGCTTTAAATTTTACTTGCTTTGTACTTGTAGGGAATCATTGTTTTTTTT TTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0261 a0001c0001t0015g0261	1	266	0.0038	-108	c.319 others(19): Show c.319-12711_319-12604del	METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	1/4			chr6	TogoVar
MGAM_chr7_141990879_142111747	142044614	ATATAATG others(101): Show ATATAATGTATATTATATACACGTGTAATATATGATATATAATGTATATT ATATACACGTGTAATATATGATGTATAATGAATATTATATACACGTGTAA TATATGATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01071.hp1 others(8): Show HG00099.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01928.hp1 HG01978.hp2 HG02738.hp1	a0001 a0014 a0015 a0001 a0014 a0015	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0014c0034 a0015c0031	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0014c0034t0001 a0015c0031t0001	a0001c0001t0001g0108 a0001c0002t0001g0055 a0001c0002t0001g0102 others(8): Show a0001c0001t0001g0108 a0001c0002t0001g0055 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0006t0001g0113 a0001c0006t0001g0167 a0014c0034t0001g0179 a0015c0031t0001g0267	11	314	0.0350	-108	c.249 others(19): Show c.2499-3163_2499-3056del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142044622	TATATTAT others(101): Show TATATTATATACACGTGTAATATATGATATATAATGTATATTATATACAC GTGTAATATATGATGTATAATGAATATTATATACACGTGTAATATATGAT GTATAATGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00735.hp2 others(43): Show HG00280.hp1 HG00597.hp2 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02257.hp1 HG02280.hp2 HG02602.hp2 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp1 HG04184.hp1 NA18612.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18978.hp2 NA18990.hp1 NA18997.hp2 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19074.hp2 NA19082.hp2 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0010 a0017 a0019 a0029	a0001c0001 a0001c0003 a0001c0007 others(11): Show a0001c0001 a0001c0003 a0001c0007 a0001c0014 a0001c0017 a0001c0043 a0002c0004 a0002c0040 a0003c0074 a0004c0012 a0010c0023 a0017c0070 a0019c0039 a0029c0044	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(11): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0014t0001 a0001c0017t0001 a0001c0043t0001 a0002c0004t0001 a0002c0040t0001 a0003c0074t0001 a0004c0012t0001 a0010c0023t0001 a0017c0070t0001 a0019c0039t0001 a0029c0044t0001	a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0066 others(42): Show a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0248 a0001c0003t0001g0202 a0001c0007t0001g0018 a0001c0007t0001g0133 a0001c0007t0001g0150 a0001c0007t0001g0158 a0001c0007t0001g0159 a0001c0007t0001g0161 a0001c0007t0001g0186 a0001c0007t0001g0208 a0001c0007t0001g0290 a0001c0014t0001g0192 a0001c0014t0001g0203 a0001c0014t0001g0263 a0001c0014t0001g0297 a0001c0017t0001g0104 a0001c0017t0001g0134 a0001c0017t0001g0160 a0001c0043t0001g0212 a0002c0004t0001g0053 a0002c0004t0001g0120 a0002c0004t0001g0123 a0002c0004t0001g0180 a0002c0004t0001g0189 a0002c0004t0001g0191 a0002c0004t0001g0195 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0198 a0002c0004t0001g0200 a0002c0004t0001g0201 a0002c0004t0001g0247 a0002c0004t0001g0258 a0002c0040t0001g0075 a0003c0074t0001g0069 a0004c0012t0001g0125 a0010c0023t0001g0046 a0010c0023t0001g0082 a0017c0070t0001g0147 a0019c0039t0001g0014 a0029c0044t0001g0181	46	300	0.1533	-108	c.249 others(19): Show c.2499-3099_2499-2992del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237543592	AGTGGGAG others(101): Show AGTGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGT GGTGAGTGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18941.hp1 NA18980.hp1 HG00738.hp1 NA18941.hp1 NA18980.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0011 a0005c0004t0001 a0002c0002t0011 a0005c0004t0001	a0002c0002t0011g0084 a0005c0004t0001g0013 a0005c0004t0001g0015 a0002c0002t0011g0084 a0005c0004t0001g0013 a0005c0004t0001g0015	3	281	0.0107	-108	c.153 others(18): Show c.1539+935_1539+1042del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544528	GGACAGTT others(101): Show GGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTT ATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGG TGATTGGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02486.hp1 HG00099.hp2 HG02486.hp1	a0001 a0030 a0001 a0030	a0001c0001 a0030c0028 a0001c0001 a0030c0028	a0001c0001t0004 a0030c0028t0001 a0001c0001t0004 a0030c0028t0001	a0001c0001t0004g0152 a0030c0028t0001g0131 a0001c0001t0004g0152 a0030c0028t0001g0131	2	268	0.0075	-108	c.153 others(19): Show c.1539+1870_1540-1970del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MRPS9_chr2_105033069_105104960	105054579	ACCCCTTT others(101): Show ACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00609.hp2 others(50): Show HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02293.hp2 HG02486.hp1 HG02683.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03927.hp2 HG04204.hp1 NA18949.hp2 NA18964.hp2 NA18974.hp1 NA18978.hp1 NA18983.hp1 NA18991.hp1 NA18994.hp2 NA19003.hp2 NA19084.hp2 NA19088.hp1 NA20129.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0013 others(1): Show a0001c0002 a0001c0003 a0001c0013 a0003c0006	a0001c0002t0002 a0001c0003t0001 a0001c0013t0001 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0013t0001 a0003c0006t0002	a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0036 others(43): Show a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0036 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0131 a0001c0002t0002g0134 a0001c0002t0002g0144 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0176 a0001c0002t0002g0313 a0001c0002t0002g0327 a0001c0003t0001g0088 a0001c0003t0001g0147 a0001c0013t0001g0151 a0003c0006t0002g0080 a0003c0006t0002g0085	53	242	0.2190	-108	c.315 others(17): Show c.315+6107_315+6214del	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055493	CGCATTTT others(101): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGACCCCT TTTGGTATT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19089.hp1 NA18966.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0067 a0001c0002t0002g0068	2	248	0.0081	-108	c.315 others(17): Show c.315+6165_315+6272del	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1F_chr19_8515778_8582442	8543759	GTGGTGGT others(101): Show GTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGCTGGTGGT GCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGC TGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	325	0.0031	-108	c.152 others(17): Show c.1524+430_1524+537del	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO9A_chr15_71817291_72123150	71845254	GCCTGCAG others(101): Show GCCTGCAGTTATGGTTCACCAGATAATCAGGGTTAGTAAGCACTTTAAAT ACAGCTAGTATCTGTTTGTAGGTATTTATATCTTGCATATGAAAAGGAAT TATTCTCAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG02970.hp2 others(4): Show HG01891.hp1 HG02886.hp1 HG02970.hp2 HG03130.hp1 HG03225.hp1 HG03540.hp1 NA20129.hp1	a0007 a0023 a0007 a0023	a0007c0009 a0007c0018 a0023c0016 a0007c0009 a0007c0018 a0023c0016	a0007c0009t0015 a0007c0009t0021 a0007c0009t0022 others(2): Show a0007c0009t0015 a0007c0009t0021 a0007c0009t0022 a0007c0018t0015 a0023c0016t0015	a0007c0009t0015g0266 a0007c0009t0021g0269 a0007c0009t0021g0270 others(4): Show a0007c0009t0015g0266 a0007c0009t0021g0269 a0007c0009t0021g0270 a0007c0009t0022g0263 a0007c0009t0022g0267 a0007c0018t0015g0265 a0023c0016t0015g0264	7	306	0.0229	-108	c.683 others(19): Show c.6837+3483_6837+3590del	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	39/41			chr15	TogoVar
MYOM2_chr8_2040046_2150456	2086315	CGTGATCT others(101): Show CGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCTCCCA CTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCT CCCACTGTT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0073 a0073	a0073c0168 a0073c0168	a0073c0168t0002 a0073c0168t0002	a0073c0168t0002g0320 a0073c0168t0002g0320	1	262	0.0038	-108	c.164 others(18): Show c.1644+946_1644+1053del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086387	TCCCACTG others(101): Show TCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGT GGCCCCCTACTGTCGTGATCTCCACGTGGCCACACACTGTCATGATCTCT GTGTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0077 a0001c0038t0001g0077	1	216	0.0046	-108	c.164 others(19): Show c.1644+1006_1644+1113del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241806541	CCTCAGCC others(101): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	313	0.0032	-108	c.-27 others(11): Show c.-2736_-2629del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2651		chr2	TogoVar
NKAIN3_chr8_62243854_62989904	62345496	CATATATA others(101): Show CATATATACACATATATACACATATATGTATATATACACACATATATACA CATATATGTATATATACACATATATACACATATATGTATATACACACATA TATACACAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00621.hp2 others(1): Show HG00423.hp2 HG00438.hp2 HG00621.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0041 a0001c0002t0032 a0001c0002t0035 others(1): Show a0001c0001t0041 a0001c0002t0032 a0001c0002t0035 a0002c0003t0047	a0001c0001t0041g0040 a0001c0002t0032g0035 a0001c0002t0035g0029 others(1): Show a0001c0001t0041g0040 a0001c0002t0032g0035 a0001c0002t0035g0029 a0002c0003t0047g0032	4	79	0.0506	-108	c.54+ others(17): Show c.54+96374_54+96481del	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136535875	GGGTGGGA others(101): Show GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAA TGGGTGCAT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0209 a0001c0006t0001g0209	1	322	0.0031	-108	c.140 others(17): Show c.140+8041_140+8148del	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPHP4_chr1_5857811_5997425	5882243	GCGCGCTT others(101): Show GCGCGCTTACCCAGCCATCTCTCAGTGGCGCGCTTACCCAGCCATCTCTC AGTGGCGCGCTTACCCAGCCATCTCTCAGTGGCGCGCTTACCCAGCCATC TCTCAGTGA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0178 a0001c0004t0001g0178	1	208	0.0048	-108	c.248 others(19): Show c.2486-2112_2486-2005del	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29			chr1	TogoVar
NPNT_chr4_105890471_105976671	105929622	AGTATACT others(101): Show AGTATACTTTTTTTAAAGTGGTGAACATAAGCCCTCAGAGGTTTCATTAA TATATCAGCACGGTAAAATATTGTTGTCCAAATGTGAGGATATAAAATAT AAAGAAGAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	234	0.0043	-108	c.265 others(17): Show c.265+2196_265+2303del	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NRXN3_chr14_78165373_79873291	79845652	CGGAGACG others(101): Show CGGAGACGGGGAGAGAGACGGAGACGGGGAGAGAGACGGAGACGGGGAGA GAGACGGAGACGGGGAGAGAGAGGGAGACGGGGAGAGAGAGGGAGACGGG GAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0019 a0001c0003t0012g0019	1	23	0.0435	-108	c.409 others(21): Show c.4094-15672_4094-15565del	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
OGFOD3_chr17_82384210_82423586	82411998	AGAGCAGA others(101): Show AGAGCAGAAAACCCTCCTGAGACCACCAGAGAGGAAGACCCTCCTGGGAC CACTGGCGCAGAAAACCCTCCTGAGACCGCCAGAGAGGAAAACCCTCCTG AGACCACTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(199): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0013 a0001c0014 a0002c0007 a0005c0017 a0008c0015 a0009c0016 a0010c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0013 a0001c0002t0017 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0027 a0001c0003t0002 a0001c0003t0019 a0001c0003t0026 a0001c0003t0029 a0001c0004t0002 a0001c0004t0005 a0001c0004t0010 a0001c0004t0012 a0001c0004t0040 a0001c0012t0005 a0001c0013t0001 a0001c0014t0002 a0002c0007t0034 a0005c0017t0002 a0008c0015t0010 a0009c0016t0002 a0010c0018t0002	a0001c0001t0001g0144 a0001c0001t0001g0247 a0001c0001t0001g0248 others(177): Show a0001c0001t0001g0144 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0262 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0314 a0001c0001t0003g0232 a0001c0001t0003g0278 a0001c0001t0003g0307 a0001c0001t0006g0025 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0011g0027 a0001c0001t0011g0313 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0022 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0184 a0001c0002t0001g0265 a0001c0002t0001g0292 a0001c0002t0002g0095 a0001c0002t0003g0118 a0001c0002t0006g0018 a0001c0002t0006g0021 a0001c0002t0006g0090 a0001c0002t0008g0093 a0001c0002t0013g0153 a0001c0002t0017g0112 a0001c0002t0020g0154 a0001c0002t0021g0131 a0001c0002t0023g0149 a0001c0002t0027g0097 a0001c0003t0002g0008 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0177 a0001c0003t0002g0180 a0001c0003t0002g0182 a0001c0003t0002g0225 a0001c0003t0002g0226 a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0002g0230 a0001c0003t0002g0231 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0238 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0244 a0001c0003t0002g0245 a0001c0003t0002g0246 a0001c0003t0002g0249 a0001c0003t0002g0250 a0001c0003t0002g0252 a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0271 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0274 a0001c0003t0002g0279 a0001c0003t0002g0280 a0001c0003t0002g0290 a0001c0003t0002g0302 a0001c0003t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0308 a0001c0003t0002g0309 a0001c0003t0019g0229 a0001c0003t0026g0291 a0001c0003t0029g0237 a0001c0004t0002g0010 a0001c0004t0002g0042 a0001c0004t0002g0050 a0001c0004t0002g0062 a0001c0004t0002g0072 a0001c0004t0002g0073 a0001c0004t0002g0075 a0001c0004t0002g0076 a0001c0004t0002g0077 a0001c0004t0002g0080 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0004t0002g0083 a0001c0004t0002g0084 a0001c0004t0002g0098 a0001c0004t0002g0102 a0001c0004t0002g0108 a0001c0004t0002g0127 a0001c0004t0002g0148 a0001c0004t0002g0161 a0001c0004t0002g0183 a0001c0004t0002g0264 a0001c0004t0002g0295 a0001c0004t0002g0316 a0001c0004t0005g0066 a0001c0004t0005g0067 a0001c0004t0005g0096 a0001c0004t0005g0159 a0001c0004t0005g0263 a0001c0004t0010g0063 a0001c0004t0012g0103 a0001c0004t0012g0109 a0001c0004t0012g0110 a0001c0004t0040g0094 a0001c0012t0005g0065 a0001c0013t0001g0106 a0001c0014t0002g0296 a0002c0007t0034g0139 a0005c0017t0002g0267 a0008c0015t0010g0317 a0009c0016t0002g0133 a0010c0018t0002g0304	202	346	0.5838	-108	c.305 others(15): Show c.305-576_305-469del	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	2/8			chr17	TogoVar
OTUD7A_chr15_31470398_31875673	31511137	AACATACA others(101): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACACACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	224	0.0045	-108	c.894 others(17): Show c.894-7427_894-7320del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PACRG_chr6_162722974_163320500	163269849	GAAAGAAA others(101): Show GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGA AAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02896.hp1 HG03130.hp2 others(2): Show HG02257.hp2 HG02896.hp1 HG03130.hp2 HG06807.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0003t0009	a0001c0001t0003g0003 a0001c0001t0003g0119 a0001c0001t0004g0078 others(2): Show a0001c0001t0003g0003 a0001c0001t0003g0119 a0001c0001t0004g0078 a0001c0001t0009g0088 a0001c0003t0009g0081	5	97	0.0515	-108	c.614 others(19): Show c.614-44976_614-44869del	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269853	GAAAGAGA others(101): Show GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGA AAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03516.hp1 HG02615.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0005 a0001c0001t0003g0006	2	113	0.0177	-108	c.614 others(19): Show c.614-44972_614-44865del	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PADI1_chr1_17200128_17251007	17241451	GAGGGTTG others(101): Show GAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTG AAAGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCAGAATCGG GATGGAATC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG01891.hp2 others(7): Show HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02280.hp1 HG02630.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0002c0026 a0001c0001 a0002c0007 a0002c0026	a0001c0001t0001 a0002c0007t0001 a0002c0026t0001 a0001c0001t0001 a0002c0007t0001 a0002c0026t0001	a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0358 others(6): Show a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0358 a0001c0001t0001g0366 a0001c0001t0001g0378 a0002c0007t0001g0014 a0002c0007t0001g0239 a0002c0007t0001g0380 a0002c0026t0001g0321	10	39	0.2564	-108	c.175 others(17): Show c.1758+743_1758+850del	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK2_chr3_196734857_196837647	196827809	GCAGTTTG others(101): Show GCAGTTTGTGCATCGTATCAATCCTCAGACCTGTTTACAGTTTGTGCATC GTATCAATCCTCAGACCTGTTTACAGTTTGTGCATCGTATCAATCCTCAG ACCTGTTTA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01496.hp2 HG01891.hp1 others(5): Show HG01074.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG02148.hp2 HG03490.hp2 HG03492.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0060 a0001c0001t0004 a0001c0001t0060	a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0037 others(5): Show a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0060g0107	8	163	0.0491	-108	c.148 others(17): Show c.1489-346_1489-239del	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196827973	ATCCTCAG others(101): Show ATCCTCAGACCTGTTTACAGTTTGTGCATCGTATCAATCCTCAGACCTGT TTACAGTTTGTGCATCGTATCAATCCTCAGACCTGTTTACAGTTTGTGCA TCGTATCAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03540.hp1 HG03540.hp2 HG02895.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055	a0001c0001t0053g0006 a0001c0001t0054g0161 a0001c0001t0055g0146 a0001c0001t0053g0006 a0001c0001t0054g0161 a0001c0001t0055g0146	3	176	0.0170	-108	c.148 others(17): Show c.1489-329_1489-222del	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAQR5_chr15_69293912_69412780	69300830	CCTTTAGT others(101): Show CCTTTAGTTCGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTC TCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp2 HG01884.hp2 others(4): Show HG00140.hp1 HG01358.hp2 HG01884.hp2 HG01975.hp2 HG02071.hp2 HG02922.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029	7	253	0.0277	-108	c.-27 others(19): Show c.-277+1779_-277+1886del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300840	GTTTTCTT others(101): Show GTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTC TTTCTTTCC	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	273	0.0037	-108	c.-27 others(19): Show c.-277+1787_-277+1894del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3_chr10_34104561_34820296	34246617	CACCCTGG others(101): Show CACCCTGGGCATGAGTAAGGGAAAATCCTATAAGCCCAGACAAGAACAAC TTTTGTGAAAAGAATAAATACCAGGCGGCCGTAAGATGAACAACTGTGGG CACCCTGAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02970.hp1 others(2): Show HG02055.hp1 HG02622.hp2 HG02970.hp1 HG03130.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0009 a0001c0002t0016 a0001c0001t0012 a0001c0002t0009 a0001c0002t0016	a0001c0001t0012g0075 a0001c0002t0009g0091 a0001c0002t0009g0092 others(2): Show a0001c0001t0012g0075 a0001c0002t0009g0091 a0001c0002t0009g0092 a0001c0002t0009g0096 a0001c0002t0016g0025	5	98	0.0510	-108	c.341 others(21): Show c.3419+22932_3419+23039del	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PCGF3_chr4_700832_775089	707979	CCCTGGGG others(101): Show CCCTGGGGGTCGGGACCCTGGGACAGCCCTGTTTTCCCCTGGGGGCCGGG ACCCTGGGACAGCCCTGTTTTCACCTGGGGGCCGGGACCCTGGGACAGCC CTGTTTTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(58): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02698.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp2 NA18982.hp1 NA18990.hp1 NA19005.hp1 NA19007.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0038 a0001c0001t0046 a0001c0001t0050 a0001c0001t0058 a0001c0001t0063 a0002c0002t0003 a0002c0002t0007 a0002c0002t0044 a0002c0002t0045 a0002c0002t0048 a0002c0002t0049 a0002c0002t0052 a0003c0008t0001	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0002g0047 others(57): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0002g0047 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0004g0053 a0001c0001t0012g0040 a0001c0001t0012g0054 a0001c0001t0013g0048 a0001c0001t0014g0061 a0001c0001t0014g0062 a0001c0001t0014g0063 a0001c0001t0022g0049 a0001c0001t0022g0069 a0001c0001t0027g0041 a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0035g0020 a0001c0001t0038g0043 a0001c0001t0046g0058 a0001c0001t0050g0050 a0001c0001t0058g0052 a0001c0001t0063g0064 a0002c0002t0003g0001 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0024 a0002c0002t0003g0033 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0067 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0007g0025 a0002c0002t0044g0032 a0002c0002t0045g0009 a0002c0002t0048g0021 a0002c0002t0049g0066 a0002c0002t0052g0034 a0003c0008t0001g0022	61	342	0.1784	-108	c.-19 others(19): Show c.-190+2018_-190+2125del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCMTD2_chr20_64250748_64281226	64270719	AAATGGTA others(101): Show AAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGTGATA CGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGT GATACGTAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00597.hp2 others(23): Show HG00099.hp2 HG00140.hp1 HG00597.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01516.hp1 HG01891.hp2 HG02027.hp1 HG02148.hp1 HG03098.hp2 HG03486.hp2 NA18951.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18979.hp1 NA18993.hp2 NA19043.hp2 NA19078.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0020 a0001c0001t0022 a0001c0002t0002	a0001c0001t0001g0061 a0001c0001t0003g0006 a0001c0001t0003g0021 others(17): Show a0001c0001t0001g0061 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0104 a0001c0001t0003g0131 a0001c0001t0006g0062 a0001c0001t0010g0027 a0001c0001t0010g0070 a0001c0001t0020g0082 a0001c0001t0022g0071 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0058 a0001c0002t0002g0146	26	252	0.1032	-108	c.707 others(17): Show c.707-2419_707-2312del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64270802	CGTGAGGT others(101): Show CGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAG GGCACGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAG GAAGGGCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(72): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18964.hp2 NA18972.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0006g0001 a0001c0001t0006g0128 a0001c0001t0016g0001 a0001c0001t0017g0111	75	213	0.3521	-108	c.707 others(17): Show c.707-2257_707-2150del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64271253	TACGTACA others(101): Show TACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTT GTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTT CGTTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(116): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG03017.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18964.hp2 NA18971.hp1 NA18972.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0002t0002 a0001c0002t0013 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0003g0068 a0001c0001t0003g0096 a0001c0001t0006g0001 a0001c0001t0006g0128 a0001c0001t0012g0033 a0001c0001t0015g0034 a0001c0001t0016g0001 a0001c0001t0017g0111 a0001c0001t0022g0071 a0001c0002t0002g0004 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0058 a0001c0002t0002g0072 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0013g0004 a0001c0002t0013g0058 a0002c0004t0001g0056	119	250	0.4760	-108	c.707 others(17): Show c.707-1808_707-1701del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PDCD6_chr5_266646_319974	307170	ACCGTGCG others(101): Show ACCGTGCGCCTCAGAAGGGGCGTTAGGCAGAACGCGTGCCCATTCTCAGG TGTGCTCGGCGTGTGTGTGCTCGGCGTGTGTGTGCTCGGCGTGTGTGTGC ACACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp1 HG02145.hp2 others(25): Show HG01261.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0004t0002	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 others(24): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0002g0009 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0003g0071 a0002c0004t0002g0267	28	358	0.0782	-108	c.367 others(15): Show c.367+495_367+602del	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PGBD5_chr1_230309490_230431332	230315348	GCCTCCTG others(101): Show GCCTCCTGGGATATGCACCCGGCGGTCCCCATTCAGCCCCGGGAGCCACT CGGATCAAGTCTGGCTGTATCCCGAGGGCGACCAGGACAGCCCTGTGAGC AGCAGTTCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02258.hp2 others(11): Show HG01243.hp2 HG02257.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0006c0010	a0001c0001t0005 a0001c0001t0027 a0001c0001t0029 others(5): Show a0001c0001t0005 a0001c0001t0027 a0001c0001t0029 a0001c0001t0048 a0001c0001t0060 a0001c0005t0005 a0001c0008t0044 a0006c0010t0005	a0001c0001t0005g0022 a0001c0001t0005g0053 a0001c0001t0005g0098 others(11): Show a0001c0001t0005g0022 a0001c0001t0005g0053 a0001c0001t0005g0098 a0001c0001t0005g0122 a0001c0001t0027g0017 a0001c0001t0027g0051 a0001c0001t0029g0042 a0001c0001t0029g0162 a0001c0001t0048g0005 a0001c0001t0060g0026 a0001c0005t0005g0121 a0001c0008t0044g0015 a0001c0008t0044g0116 a0006c0010t0005g0037	14	286	0.0490	-108	c.79 others(11): Show c.7969_*8076del	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	7/7	7969		chr1	TogoVar
PGC_chr6_41731711_41752397	41738145	CATATATA others(101): Show CATATATATATACATATATATGCATATATATATACATATATATATGCATA TATATATGCATATATATATGCATATATATATGCATATATATATGTATATA TATATGCAT	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	462	0.0022	-108	c.916 others(15): Show c.916-425_916-318del	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PHF2_chr9_93571584_93684587	93671492	ACAGGTGT others(101): Show ACAGGTGTAGATGCAGGTGTGGGTGTGGATGTAGGTACAGGTGTAGATGC AGATGTGGGTGTGGGAGTAGGGTCAGGTGTAGATGCAGATGTGGGTGTGG GAGTAGGGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02647.hp2 others(1): Show HG02109.hp1 HG02258.hp1 HG02647.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0017 a0001c0001 a0001c0015 a0001c0017	a0001c0001t0001 a0001c0015t0013 a0001c0017t0001 a0001c0001t0001 a0001c0015t0013 a0001c0017t0001	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0015t0013g0138 others(1): Show a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0015t0013g0138 a0001c0017t0001g0066	4	348	0.0115	-108	c.234 others(19): Show c.2349-2041_2349-1934del	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF2_chr9_93571584_93684587	93672129	CGGATGTA others(101): Show CGGATGTAGGTACAGGTGTAGATGCAGGTGTGGGTGTGGATGTAGGTACA GGTGTAGATGCAGATGTGGGTGTGGGAGTAGGCACAGGTGTAGATGCAGG TGTGGGTGT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02155.hp2 HG02071.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0187 a0002c0002t0001g0064 a0002c0002t0001g0187	2	141	0.0142	-108	c.234 others(19): Show c.2349-1393_2349-1286del	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PI4K2B_chr4_25229033_25284204	25249425	CTGGCCGG others(101): Show CTGGCCGGGCGGGGGCTGCCCCCCGCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGCTGCCCCCCGCCTCCCGGACGGGGTGGCTGCCGGGCGGAGGGG CTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00597.hp1 others(46): Show HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00673.hp1 HG00741.hp2 HG01167.hp2 HG01943.hp2 HG02040.hp2 HG02071.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19011.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp1 NA19072.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0011 a0005c0009 a0001c0001 a0001c0011 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0022 a0001c0001t0024 a0001c0011t0004 a0005c0009t0004	a0001c0001t0002g0308 a0001c0001t0004g0011 a0001c0001t0004g0023 others(35): Show a0001c0001t0002g0308 a0001c0001t0004g0011 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0058 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0016g0050 a0001c0001t0016g0302 a0001c0001t0022g0024 a0001c0001t0024g0056 a0001c0011t0004g0309 a0005c0009t0004g0026	49	434	0.1129	-108	c.269 others(17): Show c.269-2894_269-2787del	PI4K2B	ENSG00000038210.14	transcript	ENST00000264864.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
PITPNA_chr17_1512718_1567792	1545018	TAAATAAA others(101): Show TAAATAAAAGCATGGCTTAGTGATACTGTATCCAGCCGAGGACTATAGTT CCAGGAAGAGATGGAAGGAGAAACAAACTTTCTTTTCCTTTTCCCACTTT CATTCATTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG06807.hp2 HG02055.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0184 a0001c0001t0004g0126 a0001c0001t0004g0184	2	366	0.0055	-108	c.290 others(17): Show c.290-2099_290-1992del	PITPNA	ENSG00000174238.16	transcript	ENST00000313486.12	protein_coding	4/11			chr17	TogoVar
PJA2_chr5_109329722_109414974	109349034	CGATGGAT others(101): Show CGATGGATACAATGCCTCTTGGAACTAGCCATCTGCTCATTCTGGGAAAT GGGTGAAACTTCATTTGTAGTAATAGCTGTATTTTGTTGGGTGGAAATAC AATTCTATT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0113 a0003c0003t0002g0113	1	344	0.0029	-108	c.176 others(19): Show c.1765-4323_1765-4216del	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKP3_chr11_389209_409908	402110	CGACCCCC others(101): Show CGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCA CCCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGCTCCA CTGACCCCG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0120 a0001c0012t0001g0120	1	180	0.0056	-108	c.173 others(17): Show c.1738-966_1738-859del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402175	CCCCAGAC others(101): Show CCCCAGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCG CTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGG CTCCACTGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	207	0.0048	-108	c.173 others(17): Show c.1738-899_1738-792del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402446	ACCCCGGC others(101): Show ACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCC GCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTC ACCCCCGAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG01884.hp1 others(7): Show HG01243.hp1 HG01261.hp2 HG01884.hp1 HG02027.hp2 HG02145.hp2 HG02809.hp2 HG03516.hp2 NA18522.hp1 NA19004.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0011 a0001c0001 a0001c0005 a0001c0011	a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 a0001c0011t0001	a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0078 others(7): Show a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0195 a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0090 a0001c0005t0001g0091 a0001c0005t0004g0006 a0001c0011t0001g0050	10	188	0.0532	-108	c.173 others(17): Show c.1738-612_1738-505del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG7_chr12_92697989_92777455	92728042	GTGTATAT others(101): Show GTGTATATATAAATATATATACACACCACATTCCATGGTGTATATATAAA TATATATACACACCACATTCCATGGTGTATATATAAATATATATACACAC CACATTCCA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	241	0.0041	-108	c.531 others(15): Show c.531-948_531-841del	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG7_chr12_92697989_92777455	92728079	GTGTATAT others(101): Show GTGTATATATAAATATATATACACACCACATTCCATGGTGTATATATAAA TATATATACACACCACATTCCATGGTGTATATATAAATATATATACACAC CACATTCCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02129.hp1 HG02698.hp1 others(5): Show HG00609.hp1 HG02129.hp1 HG02698.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0075 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0002g0061	8	244	0.0328	-108	c.531 others(15): Show c.531-911_531-804del	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG7_chr12_92697989_92777455	92728227	GTGTATAT others(101): Show GTGTATATATAAATATATATACACACCACATTCCATGGTGTATATATAAA TATATATACACACCACATTCCATGGTGTATATATAAATATATATACACAC CACATTCCA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG06807.hp1 HG02698.hp2 HG06807.hp1	a0001 a0015 a0001 a0015	a0001c0005 a0015c0026 a0001c0005 a0015c0026	a0001c0005t0002 a0015c0026t0017 a0001c0005t0002 a0015c0026t0017	a0001c0005t0002g0056 a0015c0026t0017g0033 a0001c0005t0002g0056 a0015c0026t0017g0033	2	176	0.0114	-108	c.531 others(15): Show c.531-763_531-656del	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP1R16B_chr20_38800697_38928024	38895816	TCCTCCTT others(101): Show TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCCCT CCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTT CCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0059 a0001c0001t0020g0059	1	166	0.0060	-108	c.467 others(15): Show c.467+124_467+231del	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar

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