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
RAD51B_chr14_67814779_68483093	68260298	C C	CGTGTGTG others(37): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02615.hp2 HG01981.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0018 a0001c0001t0001g0034	2	33	0.0606	44	c.757 others(63): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51B_chr14_67814779_68483093	68260318	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	60	0.0167	44	c.757 others(63): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGGAGGGGGGGGGG	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RADIL_chr7_4792055_4888716	4886281	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0008 a0007c0023t0008	a0007c0023t0008g0070 a0007c0023t0008g0070	1	289	0.0035	44	c.-27 others(55): Show c.-2751_-2750insGTATATATATATATATATATATATATATATATAT ATATATATAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2566		chr7	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(37): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	101	0.0099	44	c.911 others(61): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18			chr9	TogoVar
RALYL_chr8_84178274_84926844	84342277	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02970.hp2 NA18522.hp2 others(3): Show HG02683.hp2 HG02970.hp2 NA18522.hp2 NA18964.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0001 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0078 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0005g0021 a0001c0001t0008g0005	6	30	0.2000	44	c.-24 others(65): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATATATATA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84342295	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	74	0.0135	44	c.-24 others(65): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATATATAAA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84732683	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	44	0.0227	44	c.257 others(63): Show c.257-41895_257-41894insTATATATATATATATATATATATATA TATATATATATACACACA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAMP1_chr2_237854623_237917106	237910539	A A	ACACACAG others(37): Show ACACACAGAATAACAGTCACACACACAGAATAACAGTTACACAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	402	0.0025	44	c.192 others(59): Show c.192-974_192-931dupGTCACACACACAGAATAACAGTTACACAGT CACACAGAATAACA	RAMP1	ENSG00000132329.11	transcript	ENST00000254661.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	259	0.0039	44	c.-14 others(63): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0313 a0001c0003t0001g0313	1	259	0.0039	44	c.-14 others(63): Show c.-149+8908_-149+8909insAATAAATAAATATATATATATATATA TATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RASGRF1_chr15_78954906_79095780	79092471	C C	CCACACAC others(37): Show CCACACACCACACACACATACACGACACACACACCACACATACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01243.hp2 others(27): Show HG01109.hp1 HG01243.hp1 HG01243.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0016 a0002c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0015 a0001c0003t0001 a0001c0007t0008 a0001c0016t0004 a0002c0017t0004	a0001c0001t0001g0280 a0001c0001t0001g0297 a0001c0001t0001g0299 others(27): Show a0001c0001t0001g0280 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0003g0021 a0001c0001t0003g0293 a0001c0001t0003g0298 a0001c0001t0004g0287 a0001c0001t0004g0296 a0001c0001t0009g0285 a0001c0001t0011g0003 a0001c0002t0001g0284 a0001c0002t0001g0289 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0003g0302 a0001c0002t0003g0308 a0001c0002t0004g0291 a0001c0002t0004g0292 a0001c0002t0004g0295 a0001c0002t0004g0303 a0001c0002t0006g0126 a0001c0002t0006g0288 a0001c0002t0006g0305 a0001c0002t0012g0300 a0001c0002t0015g0304 a0001c0003t0001g0286 a0001c0003t0001g0301 a0001c0007t0008g0279 a0001c0016t0004g0290 a0002c0017t0004g0294	30	300	0.1000	44	c.-19 others(55): Show c.-1974_-1973insTGGTATGTGTGGTGTGTGTGTCGTGTATGTGTGT GTGGTGTGTG	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding		1692		chr15	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(37): Show TACACACACACACACATACACACACATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00609.hp1 others(51): Show HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02602.hp1 HG02602.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA19043.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0023 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0001c0001t0056 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0031 a0001c0003t0003 a0001c0004t0002 a0001c0006t0002 a0001c0007t0017 a0001c0010t0043 a0001c0023t0019 a0002c0005t0002 a0002c0005t0004	a0001c0001t0001g0153 a0001c0001t0002g0226 a0001c0001t0003g0123 others(51): Show a0001c0001t0001g0153 a0001c0001t0002g0226 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0025 a0001c0001t0006g0195 a0001c0001t0006g0197 a0001c0001t0006g0206 a0001c0001t0006g0209 a0001c0001t0008g0256 a0001c0001t0008g0258 a0001c0001t0009g0058 a0001c0001t0010g0009 a0001c0001t0010g0014 a0001c0001t0010g0019 a0001c0001t0010g0026 a0001c0001t0011g0137 a0001c0001t0013g0132 a0001c0001t0013g0135 a0001c0001t0013g0136 a0001c0001t0018g0255 a0001c0001t0025g0022 a0001c0001t0025g0023 a0001c0001t0026g0167 a0001c0001t0044g0141 a0001c0001t0045g0133 a0001c0001t0050g0192 a0001c0001t0056g0205 a0001c0002t0001g0242 a0001c0002t0002g0244 a0001c0002t0003g0134 a0001c0002t0004g0016 a0001c0002t0004g0020 a0001c0002t0004g0024 a0001c0002t0004g0037 a0001c0002t0005g0151 a0001c0002t0007g0194 a0001c0002t0010g0011 a0001c0002t0010g0015 a0001c0002t0011g0117 a0001c0002t0031g0143 a0001c0003t0003g0130 a0001c0004t0002g0198 a0001c0006t0002g0224 a0001c0007t0017g0018 a0001c0010t0043g0034 a0001c0023t0019g0262 a0002c0005t0002g0196 a0002c0005t0004g0004 a0002c0005t0004g0021	54	175	0.3086	44	c.288 others(63): Show c.288+31172_288+31173insTACACACACATACACACACACACACA CACACACACACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRP1_chr15_38483103_38569814	38542842	T T	TATATATG others(37): Show TATATATGTGTATATATATATACATATATGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	173	0.0058	44	c.221 others(63): Show c.221-16439_221-16438insGTGTATATATATACACATATATGTAT ATATATATACACATATAT	RASGRP1	ENSG00000172575.14	transcript	ENST00000310803.10	protein_coding	2/16			chr15	TogoVar
RASSF3_chr12_64605495_64702564	64696118	C C	CCTCCCTC others(37): Show CCTCCCTCACTCACTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp1 NA19004.hp1 NA19066.hp1 NA18966.hp1 NA19004.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0266 a0001c0001t0017g0268 a0001c0001t0017g0269 a0001c0001t0017g0266 a0001c0001t0017g0268 a0001c0001t0017g0269	3	185	0.0162	44	c.12 others(55): Show c.1210_*1211insCTCACTCACTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCACTCC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	5/5	1211	INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64696118	C C	CCTCCCTC others(37): Show CCTCCCTCCCTCACTCACTCCCTCCCTCCCTCCCTCCCTCCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18943.hp2 NA18946.hp2 NA18963.hp2 others(1): Show NA18943.hp2 NA18946.hp2 NA18963.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0235 a0001c0001t0003g0236 others(1): Show a0001c0001t0003g0212 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0273	4	186	0.0215	44	c.12 others(55): Show c.1210_*1211insCTCCCTCACTCACTCCCTCCCTCCCTCCCTCCCT CCCTCACTCC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	5/5	1211	INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64696118	C C	CCTCCCTC others(37): Show CCTCCCTCCCTCCCTCACTCCCTCCCTCCCTCCCTCCCTCCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 NA18522.hp1 HG01243.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0079 a0001c0001t0014 a0001c0001t0079	a0001c0001t0014g0355 a0001c0001t0079g0360 a0001c0001t0014g0355 a0001c0001t0079g0360	2	184	0.0109	44	c.12 others(55): Show c.1210_*1211insCTCCCTCCCTCACTCCCTCCCTCCCTCCCTCCCT CCCTCACTCC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	5/5	1211	INFO_REALIGN_3_PRIME	chr12	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(37): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	23	0.0435	44	c.-35 others(55): Show c.-3577_-3576insTATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48459906	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19058.hp2 NA18979.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0273 a0001c0001t0001g0277	2	280	0.0071	44	c.210 others(59): Show c.2106+76_2106+77insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBBP8NL_chr20_62405237_62432539	62407350	C C	CACACAAA others(37): Show CACACAAAGTCCGCCGCTCCCTGGCCAGCGCGCCGCCGCGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	430	0.0023	44	c.35 others(55): Show c.3527_*3528insCCAGGCGCGGCGGCGCGCTGGCCAGGGAGCGGCG GACTTTGTGT	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding		2886		chr20	TogoVar
RBBP8_chr18_22928328_23031486	22939369	G G	GAGCTGCG others(37): Show GAGCTGCGCCCAGCCAGATCTCATTTTTAGAGGACATTTACAATT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0312 a0001c0002t0002g0312	1	328	0.0030	44	c.109 others(61): Show c.109+2409_109+2410insAGCTGCGCCCAGCCAGATCTCATTTTTA GAGGACATTTACAATT	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	2/18			chr18	TogoVar
RBBP8_chr18_22928328_23031486	23022603	A A	AAAATAAA others(37): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0301 a0001c0004t0004g0301	1	323	0.0031	44	c.259 others(61): Show c.2596+370_2596+371insATAAAATAAATAAAATAAAATAAAATAA AATAAAATAAAATAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBBP9_chr20_18481540_18502225	18500893	G G	GAATAAAA others(37): Show GAATAAAATGTCAACATAAAACAAGCAGAGACATTCCTAAAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0021 a0001c0001t0011g0021	1	452	0.0022	44	c.-37 others(55): Show c.-3727_-3726insTCCTTTTAGGAATGTCTCTGCTTGTTTTATGTTG ACATTTTATT	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		3669		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	7217009	T T	TTCCCTCC others(37): Show TTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG02622.hp1 others(4): Show HG00280.hp1 HG00741.hp1 HG02622.hp1 HG02735.hp2 HG03453.hp2 NA18994.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0003c0003t0034	a0001c0001t0001g0028 a0001c0001t0001g0053 a0001c0001t0001g0067 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0002g0007 a0001c0001t0004g0033 a0001c0001t0024g0008 a0003c0003t0034g0061	7	38	0.1842	44	c.27+ others(63): Show c.27+164928_27+164929insTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7504739	A A	ATATATAT others(37): Show ATATATATATTTATATATATATATATTTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG03471.hp1 HG02559.hp2 HG03139.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0003 a0001c0001t0006 a0001c0001t0023	a0001c0001t0003g0006 a0001c0001t0006g0038 a0001c0001t0023g0047 a0001c0001t0003g0006 a0001c0001t0006g0038 a0001c0001t0023g0047	3	55	0.0545	44	c.28- others(61): Show c.28-13399_28-13398insTTATATATATATATATTTATATATATAT ATATATTTATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7504741	A A	ATATATAT others(37): Show ATATATATATTTATATATATATATATTTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0021 a0001c0001t0041g0021	1	62	0.0161	44	c.28- others(61): Show c.28-13397_28-13396insTTATATATATATATATTTATATATATAT ATATATTTATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7341776	C C	CTCCTTCC others(37): Show CTCCTTCCCTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	40	0.0250	44	c.87+ others(59): Show c.87+8695_87+8696insCTCCTTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCC	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504739	A A	ATATATAT others(37): Show ATATATATATTTATATATATATATATTTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp1 HG03471.hp1 HG02559.hp2 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0048 a0001c0001t0002 a0001c0001t0026 a0001c0001t0048	a0001c0001t0002g0220 a0001c0001t0026g0019 a0001c0001t0048g0023 a0001c0001t0002g0220 a0001c0001t0026g0019 a0001c0001t0048g0023	3	198	0.0152	44	c.88- others(61): Show c.88-13399_88-13398insTTATATATATATATATTTATATATATAT ATATATTTATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504741	A A	ATATATAT others(37): Show ATATATATATTTATATATATATATATTTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0014 a0001c0001t0033g0014	1	215	0.0047	44	c.88- others(61): Show c.88-13397_88-13396insTTATATATATATATATTTATATATATAT ATATATTTATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504787	T T	TTATATAT others(37): Show TTATATATATATATTTATATATATATATTTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG02717.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0152 a0001c0002t0003g0036 a0001c0002t0003g0152	2	199	0.0101	44	c.88- others(61): Show c.88-13347_88-13346insTTATATATATATATTTATATATATATAT TTATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79088057	C C	CCCGGGGA others(37): Show CCCGGGGACTGTCCTGGGTGGAGGGCAGGTGAACACAAGCTGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG02300.hp2 HG01070.hp1 HG01109.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0002t0001g0012 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0002t0001g0012	3	152	0.0197	44	c.27 others(55): Show c.2782_*2825dupCAGCAGCTTGTGTTCACCTGCCCTCCACCCAGGA CAGTCCCCGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		1287		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79170128	A A	AAGGAGGA others(37): Show AAGGAGGAAGGAGGAAGGAAGGGAGGAGGAAGGAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	135	0.0074	44	c.-33 others(63): Show c.-33-54381_-33-54380insCCCTTCCTTCCTCCTTCCTCCTCCCT TCCTTCCTCCTTCCTCCT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	116	0.0086	44	c.-66 others(53): Show c.-669_-668insAGAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGA GAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	116	0.0086	44	c.-66 others(53): Show c.-669_-668insAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGAGA GAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02922.hp2 HG02132.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0110 a0001c0001t0025g0143 a0001c0001t0002g0110 a0001c0001t0025g0143	2	117	0.0171	44	c.-66 others(53): Show c.-669_-668insAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGAGAGA GAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611183	T T	TTCTCTCT others(37): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 NA18971.hp1 HG02056.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0148 a0001c0001t0022g0141 a0001c0001t0002g0148 a0001c0001t0022g0141	2	5	0.4000	44	c.-67 others(53): Show c.-678_-677insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		133		chr17	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG06807.hp1 NA18943.hp2 others(6): Show HG03834.hp1 HG06807.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18986.hp1 NA18987.hp1 NA19002.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0098 others(6): Show a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0294	9	313	0.0288	44	c.255 others(65): Show c.2559-20551_2559-20550insGTATATATATATATATATATATAT ATATATATATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	51	0.0196	44	c.67- others(57): Show c.67-557_67-556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBPJ_chr4_26316014_26439923	26316534	T T	TATATATT others(37): Show TATATATTCATATATATATTCATATATATATTCATGTATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	11	0.0909	44	c.-44 others(55): Show c.-4495_-4494insATATATTCATATATATATTCATATATATATTCAT GTATATATTC	RBPJ	ENSG00000168214.22	transcript	ENST00000355476.8	protein_coding		4479		chr4	TogoVar
RBPMS_chr8_30379541_30577256	30445649	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	7	0.1429	44	c.67- others(61): Show c.67-29104_67-29103insATATATATATATATATATATATATATAT ATATATATATATATAT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549793	T T	TCTCTCTC others(37): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0096 a0001c0001t0008g0096	1	291	0.0034	44	c.528 others(61): Show c.528+5172_528+5173insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCCCTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19030.hp2 NA18943.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0134 a0001c0001t0004g0152 a0001c0001t0001g0134 a0001c0001t0004g0152	2	25	0.0800	44	c.225 others(63): Show c.225+89729_225+89730insATATATATATATATATATATATATAT ATATATATATATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCAN2_chr6_46215736_46496449	46367044	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	158	0.0063	44	c.225 others(63): Show c.225+89707_225+89708insGTATATATATATATATATATATATAT ATATATATATATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCC1L_chr7_75037183_75078802	75072161	C C	CATATACA others(37): Show CATATACATATACATATACATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	80	0.0125	44	c.324 others(61): Show c.324+1252_324+1253insATATATATATATATATATATGTATATGT ATATGTATATGTATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1_chr1_28501043_28543989	28512221	T T	TCCACCCG others(37): Show TCCACCCGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(121): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18967.hp1 NA18986.hp2 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19089.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002	a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0078 others(106): Show a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0216 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0003g0011 a0001c0002t0003g0040 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0047 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0005g0056 a0001c0002t0005g0057 a0001c0002t0005g0058 a0001c0002t0005g0060 a0001c0002t0010g0055 a0001c0002t0012g0224 a0001c0003t0002g0218 a0001c0003t0002g0219 a0001c0003t0002g0220 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0002g0230 a0001c0003t0002g0237 a0001c0003t0002g0238 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0244 a0001c0003t0002g0245 a0001c0003t0002g0246 a0001c0003t0002g0247 a0001c0003t0002g0248 a0001c0003t0002g0249 a0001c0003t0002g0250 a0001c0003t0002g0251 a0001c0004t0001g0022 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0005t0002g0236	124	292	0.4247	44	c.-15 others(63): Show c.-153+3321_-153+3322insCGCCTTGGCCTCCCGAAGTGCTGGGA TTACAGGCATGAGCCACC	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487892	C C	CATAATAT others(37): Show CATAATATATATTCATAATATATATATTCATAATATATATTCATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00673.hp1 others(58): Show HG00438.hp2 HG00609.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01433.hp2 HG02056.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02630.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18947.hp2 NA18949.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19075.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 a0001c0001t0028	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0270 a0001c0001t0013g0156 a0001c0001t0016g0038 a0001c0001t0028g0162	61	351	0.1738	44	c.657 others(61): Show c.657+2688_657+2689insTATGAATATATATTATGAATATATATAT TATGAATATATATTAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
REEP6_chr19_1486181_1502927	1497950	G G	GGCCCAGG others(37): Show GGCCCAGGGGAGGGGCTGCGAGGGCACCGTCCCATTTCATCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	316	0.0032	44	c.73 others(53): Show c.739_*740insGCCCAGGGGAGGGGCTGCGAGGGCACCGTCCCATTT CATCAGGC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		24		chr19	TogoVar
REPS2_chrX_16941658_17158272	17050121	T T	TCTTCCTT others(37): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	164	0.0061	44	c.908 others(61): Show c.908-2258_908-2257insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(37): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04204.hp1 HG03704.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0093 a0001c0001t0002g0099	2	51	0.0392	44	c.908 others(61): Show c.908-2238_908-2237insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GGAAAAAA others(37): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0130 a0001c0002t0005g0130	1	32	0.0313	44	c.831 others(61): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02280.hp2 NA18959.hp1 HG01167.hp2 HG02280.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0002g0049 a0001c0001t0002g0065 a0001c0001t0001g0074 a0001c0001t0002g0049 a0001c0001t0002g0065	3	76	0.0395	44	c.62- others(61): Show c.62-40063_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar

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