Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PTPRE_chr10_127902103_128090855	128066947	TACACCCA others(23): Show TACACCCACACACAGGCATACACATGCACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01981.hp2 others(3): Show HG00639.hp2 HG00741.hp1 HG01981.hp2 HG02055.hp1 HG02300.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0002 a0001c0003t0004	a0001c0003t0002g0032 a0001c0003t0002g0049 a0001c0003t0002g0219 others(3): Show a0001c0003t0002g0032 a0001c0003t0002g0049 a0001c0003t0002g0219 a0001c0003t0002g0261 a0001c0003t0004g0099 a0001c0003t0004g0101	6	302	0.0199	-30	c.843 others(45): Show c.843+771_843+800delTACACATGCACACACACCCACACACAGGCA		PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRG_chr3_61556571_62302609	61871153	GTGTTGTG others(23): Show GTGTTGTGTTGTGTTATGTTATGTTATGTTA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	88	0.0114	-30	c.191 others(51): Show c.191-118467_191-118438delGTGTTGTGTTATGTTATGTTATGT TATGTT		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61871158	GTGTTGTG others(23): Show GTGTTGTGTTATGTTATGTTATGTTATGTTA	G G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	80	0.0125	-30	c.191 others(51): Show c.191-118462_191-118433delGTGTTATGTTATGTTATGTTATGT TATGTT		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61887119	CATGCATA others(23): Show CATGCATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02300.hp2 NA18998.hp1 HG01255.hp1 HG02300.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0002g0086 a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0002g0086	3	41	0.0732	-30	c.191 others(51): Show c.191-102503_191-102474delGCATATATATATATATATATATAT ATATAT		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62092063	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG02922.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0041 a0001c0001t0001g0001 a0002c0002t0001g0041	2	24	0.0833	-30	c.615 others(49): Show c.615+13843_615+13872delCACACACACACACACACACACACACA CACA		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	5/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRM_chr18_7562316_8411856	8240497	GAGAGGAA others(23): Show GAGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18612.hp2 NA18959.hp2 HG02040.hp1 NA18612.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0002g0031 a0001c0002t0001g0052 a0001c0001t0001g0051 a0001c0001t0002g0031 a0001c0002t0001g0052	3	65	0.0462	-30	c.230 others(49): Show c.2301-3558_2301-3529delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAG		PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32					INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8240633	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02040.hp2 HG01928.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0004t0001g0049 a0001c0001t0001g0001 a0001c0004t0001g0049	2	80	0.0250	-30	c.230 others(49): Show c.2301-3421_2301-3392delGAGAGAGAGAGAGAGAGAAAGAAAGA AAGA		PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32					INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8240798	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03209.hp1 NA19240.hp1 HG01884.hp2 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001	a0001c0003t0001g0040 a0001c0003t0003g0071 a0001c0005t0001g0009 a0001c0003t0001g0040 a0001c0003t0003g0071 a0001c0005t0001g0009	3	79	0.0380	-30	c.230 others(49): Show c.2301-3256_2301-3227delGAGAGAGAGAGAGAGAGAGAGAGAGA AAGA		PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32					INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8240806	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0073 a0001c0002t0006g0073	1	69	0.0145	-30	c.230 others(49): Show c.2301-3248_2301-3219delGAGAGAGAGAGAGAGAGAAAGAAAGA AAGA		PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32					INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15513132	GAAGGAAG others(23): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	161	0.0062	-30	c.146 others(49): Show c.1465-2362_1465-2333delGAAGGAAGAAAGAAAGAAAGAAAAAG AAAG		PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	7/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRS_chr19_5200508_5345812	5272595	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp1 others(21): Show HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00735.hp2 HG00738.hp1 HG01192.hp1 HG01243.hp1 HG01891.hp1 HG02004.hp1 HG02074.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp1 HG02647.hp1 HG02922.hp2 HG03139.hp1 HG03471.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA18999.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 others(12): Show a0001c0001 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0063 a0001c0064 a0001c0065	a0001c0001t0002 a0001c0007t0001 a0001c0009t0006 others(14): Show a0001c0001t0002 a0001c0007t0001 a0001c0009t0006 a0001c0009t0009 a0001c0009t0028 a0001c0010t0005 a0001c0013t0011 a0001c0014t0001 a0001c0017t0005 a0001c0018t0001 a0001c0022t0010 a0001c0023t0014 a0001c0024t0030 a0001c0025t0011 a0001c0063t0001 a0001c0064t0026 a0001c0065t0004	a0001c0001t0002g0012 a0001c0001t0002g0241 a0001c0007t0001g0129 others(21): Show a0001c0001t0002g0012 a0001c0001t0002g0241 a0001c0007t0001g0129 a0001c0007t0001g0147 a0001c0009t0006g0115 a0001c0009t0006g0116 a0001c0009t0009g0083 a0001c0009t0028g0105 a0001c0010t0005g0053 a0001c0010t0005g0090 a0001c0013t0011g0054 a0001c0014t0001g0165 a0001c0017t0005g0172 a0001c0018t0001g0222 a0001c0018t0001g0229 a0001c0022t0010g0111 a0001c0023t0014g0028 a0001c0023t0014g0080 a0001c0024t0030g0143 a0001c0025t0011g0081 a0001c0025t0011g0084 a0001c0063t0001g0035 a0001c0064t0026g0103 a0001c0065t0004g0032	24	37	0.6486	-30	c.379 others(45): Show c.379+817_379+846delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	4/37						chr19	TogoVar
PTPRT_chr20_42067756_43194906	42184531	CTTCCTCT others(23): Show CTTCCTCTTCCTCTTCTTCTTCTTCTTCTTA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0019 a0002c0001t0011g0020 a0002c0001t0011g0019 a0002c0001t0011g0020	2	62	0.0323	-30	c.249 others(51): Show c.2491+14679_2491+14708delTAAGAAGAAGAAGAAGAAGAGGAA GAGGAA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	42278073	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0034 a0001c0023t0007g0034	1	6	0.1667	-30	c.217 others(49): Show c.2176+4386_2176+4415delTATATATATATATATATATATATATA TATA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	13/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	42541811	TTTAAAAT others(23): Show TTTAAAATTTTAAAAAATTTTAAATTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0009 a0006c0010t0009	a0006c0010t0009g0021 a0006c0010t0009g0021	1	62	0.0161	-30	c.115 others(51): Show c.1154-69279_1154-69250delTTTTAAATTTAAAATTTTTTAAAA TTTTAA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	122000646	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG03139.hp2 HG01109.hp1 HG02258.hp2 HG03139.hp2	a0004 a0007 a0004 a0007	a0004c0026 a0007c0016 a0004c0026 a0007c0016	a0004c0026t0001 a0007c0016t0004 a0004c0026t0001 a0007c0016t0004	a0004c0026t0001g0045 a0007c0016t0004g0212 a0007c0016t0004g0213 a0004c0026t0001g0045 a0007c0016t0004g0212 a0007c0016t0004g0213	3	39	0.0769	-30	c.124 others(49): Show c.1240+2667_1240+2696delATATATATATATATATATATATATAT ATAT		PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	10/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
PTTG1IP_chr21_44844598_44878690	44863122	ACAGAGAC others(23): Show ACAGAGACACAGCCCACCACGGCCTCAGCAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(123): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18963.hp1 NA18964.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0032	a0001c0001t0001g0026 a0001c0001t0001g0149 a0001c0001t0001g0181 others(86): Show a0001c0001t0001g0026 a0001c0001t0001g0149 a0001c0001t0001g0181 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0004g0305 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0016g0248 a0001c0001t0016g0249 a0001c0001t0018g0303 a0001c0001t0018g0306 a0001c0001t0020g0061 a0001c0001t0027g0225 a0001c0001t0032g0304	126	325	0.3877	-30	c.169 others(47): Show c.169-1881_169-1852delCTGCTGAGGCCGTGGTGGGCTGTGTCTC TG		PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5						chr21	TogoVar
PTTG1IP_chr21_44844598_44878690	44863227	ACCACGGC others(23): Show ACCACGGCCTCAGCAGCAGAGACACAGCCCG	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	440	0.0023	-30	c.169 others(47): Show c.169-1986_169-1957delCGGGCTGTGTCTCTGCTGCTGAGGCCGT GG		PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5						chr21	TogoVar
PUM1_chr1_30926506_31070717	30942191	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	24	0.0417	-30	c.299 others(45): Show c.2995-98_2995-69delTATATATATATATATATATATATATATATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	18/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	30972269	AAGGGAAG others(23): Show AAGGGAAGGGAAGGGAAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18612.hp2 NA19002.hp1 HG03471.hp1 NA18612.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0198 a0001c0001t0001g0240 a0001c0001t0001g0072 a0001c0001t0001g0198 a0001c0001t0001g0240	3	249	0.0120	-30	c.150 others(49): Show c.1506+2352_1506+2381delCCCCTCCCCTCCCCTTCCCTTCCCTT CCCT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	30972279	AAGGGAAG others(23): Show AAGGGAAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	146	0.0068	-30	c.150 others(49): Show c.1506+2342_1506+2371delCCCCTCCCCTCCCCTCCCCTCCCCTT CCCT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PUM2_chr2_20243737_20355844	20336748	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02698.hp2 others(2): Show HG02055.hp1 HG02486.hp1 HG02698.hp2 HG02965.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0024 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0011g0339	5	26	0.1923	-30	c.-18 others(47): Show c.-18-9400_-18-9371delCACACACACACACACACACACACACACA CA		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	1/20						chr2	TogoVar
PWWP3B_chrX_106163305_106213956	106171652	GATGGTAT others(23): Show GATGGTATAGCCTACTACACACTTAGGCTAT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02293.hp1 HG01192.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	246	0.0081	-30	c.-40 others(47): Show c.-401+557_-401+586delCTACACACTTAGGCTATATGGTATAGCC TA		PWWP3B	ENSG00000157502.13	transcript	ENST00000357175.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chrX	TogoVar
PXDN_chr2_1626887_1749515	1675786	ACAGTTTG others(23): Show ACAGTTTGAGCCCGAGTATCAAACAATGACT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG01884.hp2 others(23): Show HG00642.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0024 a0002c0009 a0003c0018 a0003c0042	a0001c0001t0009 a0001c0001t0015 a0001c0003t0018 others(10): Show a0001c0001t0009 a0001c0001t0015 a0001c0003t0018 a0001c0004t0004 a0001c0005t0007 a0001c0005t0024 a0001c0007t0029 a0001c0010t0008 a0001c0024t0004 a0002c0009t0011 a0003c0018t0005 a0003c0018t0034 a0003c0042t0005	a0001c0001t0009g0039 a0001c0001t0015g0316 a0001c0003t0018g0303 others(23): Show a0001c0001t0009g0039 a0001c0001t0015g0316 a0001c0003t0018g0303 a0001c0004t0004g0029 a0001c0004t0004g0151 a0001c0004t0004g0153 a0001c0004t0004g0164 a0001c0004t0004g0205 a0001c0004t0004g0207 a0001c0004t0004g0209 a0001c0004t0004g0306 a0001c0004t0004g0311 a0001c0004t0004g0312 a0001c0005t0007g0154 a0001c0005t0007g0155 a0001c0005t0007g0161 a0001c0005t0007g0204 a0001c0005t0007g0206 a0001c0005t0024g0203 a0001c0007t0029g0156 a0001c0010t0008g0016 a0001c0024t0004g0017 a0002c0009t0011g0219 a0003c0018t0005g0048 a0003c0018t0034g0247 a0003c0042t0005g0220	26	320	0.0813	-30	c.848 others(47): Show c.848+1111_848+1140delAGTCATTGTTTGATACTCGGGCTCAAAC TG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	8/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1710639	TCTATGAA others(23): Show TCTATGAACACCCACTCTCCACCAGCACCCG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01515.hp2 NA18980.hp1 HG01361.hp1 HG01515.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0032 a0001c0001t0001 a0001c0002t0003 a0001c0002t0032	a0001c0001t0001g0186 a0001c0002t0003g0051 a0001c0002t0032g0289 a0001c0001t0001g0186 a0001c0002t0003g0051 a0001c0002t0032g0289	3	320	0.0094	-30	c.201 others(49): Show c.201-17535_201-17506delCGGGTGCTGGTGGAGAGTGGGTGTTC ATAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1710919	ACTCCACC others(23): Show ACTCCACCAGCACCCACTCTATGAACACCCG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	152	0.0066	-30	c.201 others(49): Show c.201-17815_201-17786delCGGGTGTTCATAGAGTGGGTGCTGGT GGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1711173	TCTCCACC others(23): Show TCTCCACCAGCACCCGCTCCACCAGCACCCG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	318	0.0031	-30	c.201 others(49): Show c.201-18069_201-18040delCGGGTGCTGGTGGAGCGGGTGCTGGT GGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1719909	GGAGGGAG others(23): Show GGAGGGAGGGATGCAGAGAGGGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	317	0.0032	-30	c.200 others(49): Show c.200+24317_200+24346delTCTCTCTCTCCCTCTCTGCATCCCTC CCTC		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXYLP1_chr3_141226825_141299924	141248620	CACACACG others(23): Show CACACACGTATATATACACACGTGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02735.hp2 HG02809.hp2 others(3): Show HG02109.hp1 HG02735.hp2 HG02809.hp2 HG03130.hp2 HG03239.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0014t0002 a0002c0005t0002	a0001c0001t0002g0082 a0001c0001t0002g0193 a0001c0001t0003g0244 others(3): Show a0001c0001t0002g0082 a0001c0001t0002g0193 a0001c0001t0003g0244 a0001c0003t0002g0349 a0001c0014t0002g0225 a0002c0005t0002g0231	6	380	0.0158	-30	c.-53 others(49): Show c.-53-11482_-53-11453delGTGTATATATACACACGTATATATAC ACAC		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141248836	TGTATATA others(23): Show TGTATATATACACACGTATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 HG02165.hp1 others(3): Show HG01433.hp2 HG02145.hp1 HG02165.hp1 HG02896.hp1 HG02922.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0009 a0001c0001 a0001c0004 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 a0005c0009t0002	a0001c0001t0001g0117 a0001c0001t0001g0233 a0001c0001t0002g0325 others(3): Show a0001c0001t0001g0117 a0001c0001t0001g0233 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0004t0003g0305 a0005c0009t0002g0234	6	382	0.0157	-30	c.-53 others(49): Show c.-53-11277_-53-11248delCACACGTATATATATACACACGTATA TATA		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
QRICH2_chr17_76269049_76313276	76292151	CGCTGATC others(23): Show CGCTGATCTGCACCAGGTTGGACCAAACCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03491.hp2 HG03491.hp2	a0022 a0022	a0022c0055 a0022c0055	a0022c0055t0001 a0022c0055t0001	a0022c0055t0001g0246 a0022c0055t0001g0246	1	362	0.0028	-30	c.254 others(39): Show c.2546_2575delATGGTTTGGTCCAACCTGGTGCAGATCAGC	p.His others(13): Show p.His849_Gln858del	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	4/19	2853/5972	2546/5664	849/1887			chr17	TogoVar
QRICH2_chr17_76269049_76313276	76292157	TCTGCACC others(23): Show TCTGCACCAGGTTGGACCAAACCATGCTGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01070.hp2 HG01071.hp2 HG01358.hp1 HG01070.hp2 HG01071.hp2 HG01358.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0021 a0001c0001 a0002c0021	a0001c0001t0001 a0002c0021t0001 a0001c0001t0001 a0002c0021t0001	a0001c0001t0001g0157 a0002c0021t0001g0299 a0002c0021t0001g0340 a0001c0001t0001g0157 a0002c0021t0001g0299 a0002c0021t0001g0340	3	362	0.0083	-30	c.254 others(39): Show c.2540_2569delTTCAGCATGGTTTGGTCCAACCTGGTGCAG	p.Val others(13): Show p.Val847_Ala856del	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	4/19	2847/5972	2540/5664	847/1887			chr17	TogoVar
QRICH2_chr17_76269049_76313276	76292311	CACCAGGT others(23): Show CACCAGGTTGCACCAAACCACGCTGAACTAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(181): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(7): Show a0002 a0004 a0005 a0006 a0007 a0009 a0016 a0022 a0024 a0025	a0002c0002 a0002c0004 a0002c0021 others(31): Show a0002c0002 a0002c0004 a0002c0021 a0002c0022 a0002c0023 a0002c0048 a0002c0049 a0002c0050 a0002c0051 a0002c0052 a0002c0053 a0002c0054 a0002c0057 a0004c0006 a0004c0009 a0004c0014 a0004c0019 a0004c0020 a0004c0040 a0004c0041 a0005c0007 a0005c0012 a0005c0017 a0006c0008 a0006c0013 a0006c0018 a0007c0010 a0007c0038 a0009c0044 a0009c0045 a0016c0039 a0022c0055 a0024c0037 a0025c0056	a0002c0002t0001 a0002c0004t0001 a0002c0021t0001 others(32): Show a0002c0002t0001 a0002c0004t0001 a0002c0021t0001 a0002c0022t0001 a0002c0023t0001 a0002c0048t0001 a0002c0049t0001 a0002c0050t0001 a0002c0051t0001 a0002c0052t0001 a0002c0053t0001 a0002c0054t0001 a0002c0057t0001 a0004c0006t0002 a0004c0009t0002 a0004c0014t0002 a0004c0019t0002 a0004c0020t0002 a0004c0040t0002 a0004c0041t0002 a0005c0007t0003 a0005c0012t0002 a0005c0017t0003 a0006c0008t0001 a0006c0008t0005 a0006c0013t0001 a0006c0018t0005 a0007c0010t0001 a0007c0038t0001 a0009c0044t0002 a0009c0045t0001 a0016c0039t0002 a0022c0055t0001 a0024c0037t0001 a0025c0056t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0234 others(173): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0258 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0276 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0004t0001g0240 a0002c0004t0001g0241 a0002c0004t0001g0242 a0002c0004t0001g0243 a0002c0004t0001g0244 a0002c0004t0001g0245 a0002c0004t0001g0247 a0002c0004t0001g0248 a0002c0004t0001g0249 a0002c0004t0001g0250 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0257 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0265 a0002c0004t0001g0268 a0002c0004t0001g0269 a0002c0004t0001g0272 a0002c0004t0001g0275 a0002c0004t0001g0277 a0002c0004t0001g0286 a0002c0004t0001g0294 a0002c0004t0001g0295 a0002c0004t0001g0304 a0002c0004t0001g0311 a0002c0004t0001g0316 a0002c0004t0001g0320 a0002c0004t0001g0332 a0002c0021t0001g0299 a0002c0021t0001g0340 a0002c0022t0001g0237 a0002c0022t0001g0307 a0002c0023t0001g0292 a0002c0023t0001g0327 a0002c0048t0001g0278 a0002c0049t0001g0270 a0002c0050t0001g0267 a0002c0051t0001g0256 a0002c0052t0001g0253 a0002c0053t0001g0255 a0002c0054t0001g0254 a0002c0057t0001g0313 a0004c0006t0002g0028 a0004c0006t0002g0029 a0004c0006t0002g0030 a0004c0006t0002g0031 a0004c0006t0002g0034 a0004c0006t0002g0038 a0004c0006t0002g0040 a0004c0006t0002g0042 a0004c0006t0002g0048 a0004c0006t0002g0051 a0004c0006t0002g0052 a0004c0006t0002g0054 a0004c0006t0002g0055 a0004c0006t0002g0056 a0004c0009t0002g0032 a0004c0009t0002g0036 a0004c0009t0002g0037 a0004c0009t0002g0039 a0004c0009t0002g0043 a0004c0009t0002g0044 a0004c0009t0002g0045 a0004c0014t0002g0005 a0004c0014t0002g0046 a0004c0019t0002g0041 a0004c0019t0002g0053 a0004c0020t0002g0033 a0004c0020t0002g0047 a0004c0040t0002g0035 a0004c0041t0002g0050 a0005c0007t0003g0012 a0005c0007t0003g0013 a0005c0007t0003g0014 a0005c0007t0003g0015 a0005c0007t0003g0016 a0005c0007t0003g0017 a0005c0007t0003g0018 a0005c0007t0003g0019 a0005c0007t0003g0021 a0005c0007t0003g0023 a0005c0007t0003g0024 a0005c0012t0002g0025 a0005c0012t0002g0026 a0005c0012t0002g0027 a0005c0017t0003g0020 a0005c0017t0003g0022 a0006c0008t0001g0071 a0006c0008t0001g0217 a0006c0008t0001g0218 a0006c0008t0001g0221 a0006c0008t0005g0011 a0006c0008t0005g0346 a0006c0013t0001g0219 a0006c0013t0001g0222 a0006c0013t0001g0224 a0006c0018t0005g0344 a0006c0018t0005g0345 a0007c0010t0001g0225 a0007c0010t0001g0227 a0007c0010t0001g0228 a0007c0010t0001g0229 a0007c0010t0001g0230 a0007c0038t0001g0226 a0009c0044t0002g0057 a0009c0045t0001g0233 a0016c0039t0002g0049 a0022c0055t0001g0246 a0024c0037t0001g0214 a0025c0056t0001g0343	184	362	0.5083	-30	c.238 others(39): Show c.2386_2415delATAGTTCAGCGTGGTTTGGTGCAACCTGGT	p.Ile others(13): Show p.Ile796_Gly805del	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	4/19	2693/5972	2386/5664	796/1887			chr17	TogoVar
R3HCC1L_chr10_98129657_98249897	98140817	GTTAACTA others(23): Show GTTAACTACTTACGTGACCTCTCAGTGTAGT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0018 a0018	a0018c0019 a0018c0019	a0018c0019t0003 a0018c0019t0003	a0018c0019t0003g0029 a0018c0019t0003g0029	1	386	0.0026	-30	c.-26 others(49): Show c.-268+6116_-268+6145delCTACTTACGTGACCTCTCAGTGTAGT TTAA		R3HCC1L	ENSG00000166024.14	transcript	ENST00000298999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
R3HDM2_chr12_57248764_57436043	57345500	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	7	0.1429	-30	c.-35 others(49): Show c.-35-35067_-35-35038delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23						chr12	TogoVar
R3HDM4_chr19_891503_918219	892655	CTCTCCAG others(23): Show CTCTCCAGGCCCCGCACCGATAACCCCGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(84): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG02056.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18982.hp2 NA18995.hp1 NA18997.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0298 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0350 a0001c0001t0001g0357 a0001c0001t0001g0368 a0001c0001t0001g0374 a0001c0001t0001g0385 a0001c0001t0002g0036 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0221 a0001c0001t0002g0237 a0001c0001t0003g0026 a0001c0001t0003g0037 a0001c0001t0003g0090 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0212 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0281 a0001c0001t0004g0055 a0001c0001t0014g0208 a0001c0003t0001g0010 a0001c0003t0001g0269 a0001c0003t0001g0371 a0001c0003t0004g0012 a0001c0003t0004g0278 a0001c0004t0001g0179 a0002c0002t0001g0047 a0002c0002t0001g0262 a0002c0002t0001g0297 a0004c0005t0001g0008	87	430	0.2023	-30	c.47 others(41): Show c.4752_*4781delCTGCGGGGTTATCGGTGCGGGGCCTGGAGA		R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding					3847		chr19	TogoVar
R3HDM4_chr19_891503_918219	916460	GAGGGTGG others(23): Show GAGGGTGGATCACGAGGTCAGGAGATCAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	430	0.0023	-30	c.-33 others(41): Show c.-3333_-3304delTCTTGATCTCCTGACCTCGTGATCCACCCT		R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding					3242		chr19	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445552	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02258.hp2 HG02895.hp2 HG01346.hp2 HG02258.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0001t0041 a0001c0004t0043 a0001c0001t0007 a0001c0001t0041 a0001c0004t0043	a0001c0001t0007g0171 a0001c0001t0041g0220 a0001c0004t0043g0269 a0001c0001t0007g0171 a0001c0001t0041g0220 a0001c0004t0043g0269	3	245	0.0122	-30	c.336 others(49): Show c.336+11432_336+11461delATATATATATATATATATATATATAT TTTT		RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445554	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp1 HG01256.hp2 HG01074.hp1 HG01256.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0037 a0001c0003t0006 a0001c0001t0002 a0001c0001t0037 a0001c0003t0006	a0001c0001t0002g0145 a0001c0001t0037g0081 a0001c0003t0006g0110 a0001c0001t0002g0145 a0001c0001t0037g0081 a0001c0003t0006g0110	3	298	0.0101	-30	c.336 others(49): Show c.336+11434_336+11463delATATATATATATATATATATATATTT TTTT		RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB27A_chr15_55197966_55294813	55210062	GTGTGTGT others(23): Show GTGTGTGTACATATACATATATACACATATA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18979.hp2 NA18995.hp2 others(1): Show NA18948.hp2 NA18979.hp2 NA18995.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0255	4	214	0.0187	-30	c.468 others(47): Show c.468-4387_468-4358delTATATGTGTATATATGTATATGTACACA CA		RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6						chr15	TogoVar
RAB2A_chr8_60511987_60628644	60548430	CAGAGTGG others(23): Show CAGAGTGGCTCCTCACTTCCCAGTAGGGGCG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00735.hp1 others(18): Show HG00544.hp2 HG00597.hp1 HG00735.hp1 HG00741.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG02074.hp2 HG02135.hp2 HG02647.hp1 HG02738.hp1 HG03209.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18966.hp2 NA18980.hp2 NA18994.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0088 others(18): Show a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0111 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0134 a0001c0001t0002g0171 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0312 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0065 a0001c0001t0003g0069 a0001c0001t0007g0187	21	174	0.1207	-30	c.47- others(47): Show c.47-10421_47-10392delAGAGTGGCTCCTCACTTCCCAGTAGGGG CG		RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7						chr8	TogoVar
RAB2A_chr8_60511987_60628644	60565676	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02886.hp1 others(1): Show HG02572.hp1 HG02717.hp2 HG02886.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0323 a0001c0001t0008g0325 a0001c0001t0008g0326 others(1): Show a0001c0001t0008g0323 a0001c0001t0008g0325 a0001c0001t0008g0326 a0001c0001t0008g0329	4	85	0.0471	-30	c.119 others(47): Show c.119-6347_119-6318delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB3C_chr5_58578075_58864394	58627471	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	67	0.0149	-30	c.252 others(47): Show c.252+9620_252+9649delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58693292	AAATTTAA others(23): Show AAATTTAATTATATAAATAAAATTAAGAAAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02896.hp2 HG01168.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0083 a0001c0001t0002 a0001c0001t0083	a0001c0001t0002g0073 a0001c0001t0083g0123 a0001c0001t0002g0073 a0001c0001t0083g0123	2	218	0.0092	-30	c.253 others(49): Show c.253-32709_253-32680delAATTTAATTATATAAATAAAATTAAG AAAT		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4						chr5	TogoVar
RAB3C_chr5_58578075_58864394	58737394	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0192 a0001c0001t0055g0192	1	12	0.0833	-30	c.371 others(49): Show c.371+11300_371+11329delTATATATATATATATATATATATATA TATA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135081350	ATATATAT others(23): Show ATATATATATATACACACACGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02683.hp2 NA21309.hp2 HG01192.hp2 HG02683.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0104 a0002c0002t0001g0126 a0002c0002t0001g0127	3	276	0.0109	-30	c.151 others(47): Show c.151-9636_151-9607delACACACACGTGTGTGTGTGTATATATAT AT		RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3IP_chr12_69733860_69828199	69824499	ATATATAT others(23): Show ATATATATATGTATATATGTATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02165.hp2 NA18942.hp2 others(1): Show HG02135.hp1 HG02165.hp2 NA18942.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0047 a0001c0001t0002 a0001c0001t0009 a0001c0001t0047	a0001c0001t0002g0290 a0001c0001t0002g0304 a0001c0001t0009g0286 others(1): Show a0001c0001t0002g0290 a0001c0001t0002g0304 a0001c0001t0009g0286 a0001c0001t0047g0274	4	400	0.0100	-30	c.90 others(41): Show c.9054_*9083delTATATATATGTATATATGTATATATATATG		RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding					1301		chr12	TogoVar
RAB44_chr6_36692826_36738184	36734313	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18956.hp2 NA18959.hp2 others(10): Show NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18969.hp1 NA18980.hp1 NA18982.hp1 NA19003.hp1 NA19004.hp1 NA19056.hp2 NA19057.hp1 NA19081.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0032 a0002c0005t0001g0162 others(1): Show a0002c0005t0001g0001 a0002c0005t0001g0032 a0002c0005t0001g0162 a0002c0005t0001g0163	13	169	0.0769	-30	c.22 others(41): Show c.2221_*2250delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG		RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding					1130		chr6	TogoVar
RAB5C_chr17_42119979_42159989	42144925	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG01952.hp1 HG00639.hp1 HG01167.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0074	3	7	0.4286	-30	c.-89 others(47): Show c.-89+9938_-89+9967delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		RAB5C	ENSG00000108774.15	transcript	ENST00000346213.9	protein_coding	1/5						chr17	TogoVar
RAB5IF_chr20_36600779_36617557	36609189	ACACACGC others(23): Show ACACACGCACACACGCACACACGCACACACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	388	0.0026	-30	c.219 others(45): Show c.219-406_219-377delGCACACACGCACACACGCACACACGCACAC		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6B_chr3_133819235_133900882	133889388	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0099	1	55	0.0182	-30	c.70+ others(45): Show c.70+5979_70+6008delTATATATATATATATATATATATATATATA		RAB6B	ENSG00000154917.11	transcript	ENST00000285208.9	protein_coding	1/7						chr3	TogoVar

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