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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNF11_chr1_51231273_51278447	51264271	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 NA19240.hp1 HG02630.hp2 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0021 a0001c0001t0016 a0001c0001t0021	a0001c0001t0016g0060 a0001c0001t0016g0063 a0001c0001t0021g0061 a0001c0001t0016g0060 a0001c0001t0016g0063 a0001c0001t0021g0061	3	272	0.0110	-34	c.124 others(51): Show c.124-5683_124-5650delAAAAAAAAAAAAAAAATATATATATATA TATATA	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF11_chr1_51231273_51278447	51264273	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0196 a0001c0001t0022g0196	1	272	0.0037	-34	c.124 others(51): Show c.124-5681_124-5648delAAAAAAAAAAAAAATATATATATATATA TATATA	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF130_chr5_179950067_180076759	180012014	CCACAGTC others(27): Show CCACAGTCAGCGTTTGGGTATTTTATATCTACTTT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	338	0.0030	-34	c.693 others(51): Show c.693+1013_693+1046delAAAGTAGATATAAAATACCCAAACGCTG ACTGTG	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF138_chr18_32086874_32136561	32091953	CGGCGCTC others(27): Show CGGCGCTCCCGCGTTCGGTGACGGCCGGGTAGGCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp2 NA18952.hp1 NA19012.hp2 others(1): Show HG00423.hp2 NA18952.hp1 NA19012.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0015 a0001c0001t0009g0043 a0001c0001t0009g0112 a0001c0001t0009g0015 a0001c0001t0009g0043 a0001c0001t0009g0112	4	360	0.0111	-34	c.-35 others(43): Show c.-358_-325delGCGCTCCCGCGTTCGGTGACGGCCGGGTAGGCTG	RNF138	ENSG00000134758.14	transcript	ENST00000261593.8	protein_coding	1/8	789	INFO_REALIGN_3_PRIME	chr18	TogoVar
RNF145_chr5_159152409_159214553	159214250	GCTGCTGC others(27): Show GCTGCTGCTTCTAAAAATTTTACCAATTACCGTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	392	0.0026	-34	c.-50 others(45): Show c.-5093_-5060delTAACGGTAATTGGTAAAATTTTTAGAAGCAGCAG	RNF145	ENSG00000145860.13	transcript	ENST00000424310.7	protein_coding		4698		chr5	TogoVar
RNF150_chr4_140854807_141138469	140945579	ATATACTA others(27): Show ATATACTACATATATACATATATACATATATATAC	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0128 a0001c0001t0085g0128	1	182	0.0055	-34	c.890 others(51): Show c.890+2041_890+2074delGTATATATATGTATATATGTATATATGT AGTATA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	4/6			chr4	TogoVar
RNF17_chr13_24759169_24884921	24882128	ATATAGAT others(27): Show ATATAGATAGATACATCTATATAGATAGATACATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01993.hp2 HG02523.hp1 others(21): Show HG01943.hp1 HG01993.hp2 HG02523.hp1 HG04184.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18957.hp2 NA18964.hp2 NA18970.hp2 NA18972.hp1 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18987.hp1 NA18993.hp1 NA18995.hp2 NA19006.hp2 NA19010.hp1 NA19054.hp1 NA19058.hp1 NA19065.hp2 NA19085.hp2 NA19088.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0001 a0005c0005t0001g0095 a0005c0005t0001g0097 others(19): Show a0005c0005t0001g0001 a0005c0005t0001g0095 a0005c0005t0001g0097 a0005c0005t0001g0102 a0005c0005t0001g0396 a0005c0005t0001g0397 a0005c0005t0001g0398 a0005c0005t0001g0399 a0005c0005t0001g0400 a0005c0005t0001g0401 a0005c0005t0001g0402 a0005c0005t0001g0404 a0005c0005t0001g0406 a0005c0005t0001g0407 a0005c0005t0001g0408 a0005c0005t0001g0409 a0005c0005t0001g0410 a0005c0005t0001g0411 a0005c0005t0001g0412 a0005c0005t0001g0413 a0005c0005t0001g0414 a0005c0005t0001g0415	24	424	0.0566	-34	c.24 others(45): Show c.2403_*2436delTATAGATAGATACATCTATATAGATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2208		chr13	TogoVar
RNF212B_chr14_23232936_23278477	23273757	TCTCTTTT others(27): Show TCTCTTTTAGGCAAGGGCCTGTCCTGTAGCAAATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA18992.hp2 HG02080.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0174 a0001c0001t0001g0186	2	366	0.0055	-34	c.86 others(43): Show c.867_*900delCTCTTTTAGGCAAGGGCCTGTCCTGTAGCAAATG	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		281		chr14	TogoVar
RNF213_chr17_80255852_80403794	80355434	ATGGGAAT others(27): Show ATGGGAATCGGGGCTCACGGAGGAAGAGGGGTGAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0022 a0022	a0022c0022 a0022c0022	a0022c0022t0003 a0022c0022t0003	a0022c0022t0003g0169 a0022c0022t0003g0170 a0022c0022t0003g0169 a0022c0022t0003g0170	2	281	0.0071	-34	c.108 others(53): Show c.10862+859_10862+892delTGGGAATCGGGGCTCACGGAGGAAGA GGGGTGAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF220_chr1_44400255_44656723	44523649	AACACCAT others(27): Show AACACCATGCTTTGAAAGAACCTGCTTCGCATGGT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	218	0.0046	-34	c.626 others(53): Show c.626-90515_626-90482delACACCATGCTTTGAAAGAACCTGCTT CGCATGGT	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14			chr1	TogoVar
RNF32_chr7_156635774_156682130	156679005	TGTAAGGT others(27): Show TGTAAGGTACATGAATGAACAAGAAACTGAAAACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	446	0.0022	-34	c.23 others(45): Show c.2351_*2384delGTAAGGTACATGAATGAACAAGAAACTGAAAACC	RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding		1876		chr7	TogoVar
RNFT2_chr12_116733315_116858631	116841848	TATATATA others(27): Show TATATATAAAAATATATATATAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0088 a0001c0003t0035g0088	1	262	0.0038	-34	c.120 others(53): Show c.1200+5574_1200+5607delAAAATATATATATAAATATATATATA AATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88739725	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	33	0.0303	-34	c.143 others(55): Show c.1439+30015_1439+30048delTATATATATATATATATATATATA TATATATATA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88929886	ATATATAC others(27): Show ATATATACATATGTATACATATGCATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG06807.hp2 HG03139.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0031 a0001c0001t0004g0032	2	217	0.0092	-34	c.175 others(49): Show c.175-653_175-620delCGTGTATATATGCATATGTATACATATGTA TATA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	2/15			chr6	TogoVar
RNH1_chr11_489515_512242	497177	ACACGGAC others(27): Show ACACGGACACTCGTGCTCACTCTCACCCATGTGCT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0170 a0006c0010t0006g0170	1	386	0.0026	-34	c.112 others(51): Show c.1127+760_1127+793delAGCACATGGGTGAGAGTGAGCACGAGTG TCCGTG	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding	9/10			chr11	TogoVar
RNPC3_chr1_103520699_103560239	103525497	GCCGCCGT others(27): Show GCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp1 others(29): Show HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG02027.hp1 HG02040.hp1 HG02080.hp2 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02965.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 NA18955.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp1 NA18995.hp1 NA18999.hp2 NA19004.hp1 NA19060.hp2 NA19068.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0002g0009 a0001c0001t0002g0039 a0001c0001t0002g0056 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0057 a0001c0002t0001g0065 a0002c0004t0001g0005	32	112	0.2857	-34	c.-57 others(43): Show c.-573_-540delCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCGCC	RNPC3	ENSG00000185946.16	transcript	ENST00000423855.7	protein_coding		201		chr1	TogoVar
ROBO1_chr3_78592239_79772998	78711365	TCCTTCCT others(27): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02717.hp1 HG02451.hp1 HG02451.hp2 HG02717.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0009 a0004c0010 a0001c0002 a0003c0009 a0004c0010	a0001c0002t0016 a0003c0009t0017 a0004c0010t0002 a0001c0002t0016 a0003c0009t0017 a0004c0010t0002	a0001c0002t0016g0044 a0003c0009t0017g0042 a0004c0010t0002g0031 a0001c0002t0016g0044 a0003c0009t0017g0042 a0004c0010t0002g0031	3	44	0.0682	-34	c.104 others(53): Show c.1045+2998_1045+3031delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGG	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	78711369	TCCTTCCT others(27): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0020 a0001c0003t0006g0020	1	44	0.0227	-34	c.104 others(53): Show c.1045+2994_1045+3027delGAAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGG	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROR1_chr1_63769017_64186498	63882915	AAAGAGAA others(27): Show AAAGAGAAAATTAAGGACTGTCTTCAAATATTTTG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp2 HG02723.hp2 others(2): Show HG01934.hp1 HG02257.hp2 HG02723.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0011t0004	a0001c0001t0001g0023 a0001c0002t0001g0089 a0001c0002t0006g0010 others(2): Show a0001c0001t0001g0023 a0001c0002t0001g0089 a0001c0002t0006g0010 a0001c0002t0007g0052 a0001c0011t0004g0062	5	96	0.0521	-34	c.91+ others(53): Show c.91+108412_91+108445delGAAAATTAAGGACTGTCTTCAAATAT TTTGAAGA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
RORA_chr15_60483284_61234302	60516023	ATATATTT others(27): Show ATATATTTATATATATTTATATATTTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03579.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0084 a0001c0007t0003g0097 a0001c0007t0003g0084 a0001c0007t0003g0097	2	118	0.0169	-34	c.283 others(51): Show c.283-1300_283-1267delAATATATATAAATATATAAATATATATA AATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORB_chr9_74492335_74698177	74532826	GTGTATAT others(27): Show GTGTATATATATACACATATATATACACATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(129): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18999.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0062 a0001c0001t0064 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0002t0022 a0001c0002t0058 a0001c0002t0065	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(129): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0119 a0001c0001t0003g0024 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0004g0058 a0001c0001t0004g0093 a0001c0001t0004g0096 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0158 a0001c0001t0005g0011 a0001c0001t0005g0034 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0084 a0001c0001t0006g0102 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0039 a0001c0001t0007g0100 a0001c0001t0007g0137 a0001c0001t0008g0078 a0001c0001t0008g0092 a0001c0001t0008g0106 a0001c0001t0008g0131 a0001c0001t0009g0023 a0001c0001t0009g0025 a0001c0001t0009g0070 a0001c0001t0009g0075 a0001c0001t0010g0004 a0001c0001t0010g0143 a0001c0001t0013g0036 a0001c0001t0013g0110 a0001c0001t0015g0111 a0001c0001t0015g0142 a0001c0001t0016g0099 a0001c0001t0017g0097 a0001c0001t0017g0107 a0001c0001t0017g0141 a0001c0001t0018g0089 a0001c0001t0019g0086 a0001c0001t0019g0090 a0001c0001t0019g0091 a0001c0001t0020g0138 a0001c0001t0020g0139 a0001c0001t0021g0003 a0001c0001t0021g0112 a0001c0001t0022g0069 a0001c0001t0024g0095 a0001c0001t0025g0054 a0001c0001t0025g0217 a0001c0001t0027g0082 a0001c0001t0029g0057 a0001c0001t0031g0121 a0001c0001t0032g0076 a0001c0001t0033g0079 a0001c0001t0034g0064 a0001c0001t0035g0146 a0001c0001t0036g0150 a0001c0001t0040g0022 a0001c0001t0041g0074 a0001c0001t0042g0155 a0001c0001t0045g0061 a0001c0001t0046g0094 a0001c0001t0047g0087 a0001c0001t0048g0144 a0001c0001t0049g0105 a0001c0001t0050g0145 a0001c0001t0052g0147 a0001c0001t0062g0104 a0001c0001t0064g0101 a0001c0002t0001g0122 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0216 a0001c0002t0003g0026 a0001c0002t0003g0124 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0004g0027 a0001c0002t0005g0077 a0001c0002t0009g0116 a0001c0002t0011g0123 a0001c0002t0022g0028 a0001c0002t0058g0109 a0001c0002t0065g0031	132	224	0.5893	-34	c.7+3 others(49): Show c.7+34847_7+34880delATATATATACACATATATATACACATATAT ATGT	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RPAP2_chr1_92294059_92407056	92328293	ATTCTTAG others(27): Show ATTCTTAGGTTTGTTTGTTTGACATAATCCCAAAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0136 a0001c0001t0020g0136	1	190	0.0053	-34	c.145 others(53): Show c.1455+3924_1455+3957delAGGTTTGTTTGTTTGACATAATCCCA AACTTCTT	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	242249	TTACCTTC others(27): Show TTACCTTCCTCTATTGATTACCTTCCTCTATTGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0093 a0001c0001t0016g0093	1	125	0.0080	-34	c.613 others(51): Show c.613+4828_613+4861delGTCAATAGAGGAAGGTAATCAATAGAGG AAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242778	CTACCTTC others(27): Show CTACCTTCCTCTAATGACTACCTTCCTCTATTGAT	C C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	119	0.0084	-34	c.613 others(51): Show c.613+4299_613+4332delATCAATAGAGGAAGGTAGTCATTAGAGG AAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPL26_chr17_8372516_8388193	8384050	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	16	0.0625	-34	c.-93 others(43): Show c.-933_-900delACACACACACACACACACACACACACACACACAC	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		858		chr17	TogoVar
RPP25_chr15_74949418_74961772	74951102	TGGCTCCC others(27): Show TGGCTCCCTCACTTCCCTGTGACCTGGCTCCCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp2 others(112): Show HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18964.hp1 NA18966.hp2 NA18975.hp1 NA18979.hp1 NA18985.hp1 NA18989.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19070.hp2 NA19079.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0010g0000 a0001c0001t0011g0000	115	420	0.2738	-34	c.48 others(45): Show c.4848_*4881delGGTGGGAGCCAGGTCACAGGGAAGTGAGGGAGCC	RPP25	ENSG00000178718.7	transcript	ENST00000322177.6	protein_coding		3315		chr15	TogoVar
RPS6KA2_chr6_166404364_166632251	166510554	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp2 HG02717.hp2 HG03540.hp2	a0001 a0001	a0001c0010 a0001c0013 a0001c0010 a0001c0013	a0001c0010t0004 a0001c0013t0010 a0001c0010t0004 a0001c0013t0010	a0001c0010t0004g0065 a0001c0013t0010g0123 a0001c0010t0004g0065 a0001c0013t0010g0123	2	35	0.0571	-34	c.299 others(49): Show c.299-231_299-198delATATATATATATATATATATATATATATAT ATAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20			chr6	TogoVar
RPS6KA5_chr14_90842861_91065641	91044358	AGAAAGAG others(27): Show AGAAAGAGAAAGAAAGAAGGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp2 HG02055.hp1 others(9): Show HG00738.hp2 HG01169.hp2 HG02055.hp1 HG02451.hp2 HG02559.hp1 HG02897.hp2 HG02970.hp1 HG03195.hp1 HG03453.hp1 NA18906.hp1 NA18985.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0054 others(9): Show a0001c0001t0004 a0001c0001t0027 a0001c0001t0054 a0001c0001t0079 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0162 a0001c0001t0180 a0001c0001t0183	a0001c0001t0004g0060 a0001c0001t0027g0050 a0001c0001t0054g0068 others(9): Show a0001c0001t0004g0060 a0001c0001t0027g0050 a0001c0001t0054g0068 a0001c0001t0079g0090 a0001c0001t0145g0057 a0001c0001t0146g0052 a0001c0001t0147g0200 a0001c0001t0148g0056 a0001c0001t0149g0055 a0001c0001t0162g0054 a0001c0001t0180g0005 a0001c0001t0183g0006	12	304	0.0395	-34	c.103 others(53): Show c.103+15940_103+15973delCTTCTTTCTTTCTTTCCTTCTTTCTT TCTCTTTC	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91062578	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0175 a0001c0001t0027g0175	1	295	0.0034	-34	c.-21 others(45): Show c.-2178_-2145delTTATATATATATATATATATATATATATATATAT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding		1938		chr14	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00639.hp1 others(111): Show HG00408.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01884.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0035 others(108): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0221 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0265 a0001c0001t0003g0269 a0001c0001t0004g0280 a0001c0001t0006g0001 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0270 a0001c0001t0006g0274 a0001c0001t0006g0294 a0001c0001t0006g0299 a0001c0001t0007g0026 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0093 a0001c0001t0009g0272 a0001c0001t0010g0029 a0001c0001t0011g0071 a0001c0001t0012g0291 a0001c0001t0013g0057 a0001c0001t0015g0094 a0001c0001t0017g0241 a0001c0001t0022g0204	114	116	0.9828	-34	c.142 others(51): Show c.142-1310_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01952.hp1 HG02083.hp2 others(20): Show HG01358.hp1 HG01952.hp1 HG02083.hp2 HG03453.hp2 HG03540.hp2 HG03669.hp2 NA18747.hp2 NA18941.hp1 NA18947.hp2 NA18956.hp1 NA18970.hp1 NA18972.hp1 NA18985.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19058.hp1 NA19065.hp1 NA19080.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0002c0002t0001 a0003c0003t0001	a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0199 others(20): Show a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0199 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0015g0219 a0002c0002t0001g0002 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0268 a0003c0003t0001g0213	23	101	0.2277	-34	c.472 others(51): Show c.472+2056_472+2089delATATATATATATATATATATATATATAT ATATAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80893456	CGCGCCAG others(27): Show CGCGCCAGGTTGTGTCTGTACGCGCCAGGGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0011 a0001c0076t0011	a0001c0076t0011g0087 a0001c0076t0011g0087	1	193	0.0052	-34	c.224 others(51): Show c.2243-242_2243-209delTTGTGTCTGTACGCGCCAGGGTGTGTGC GCCAGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSF1_chr11_77655009_77825722	77671122	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02132.hp1 HG06807.hp2 others(8): Show HG01243.hp2 HG02132.hp1 HG06807.hp2 NA18939.hp1 NA18941.hp1 NA18946.hp1 NA18951.hp2 NA18964.hp1 NA18986.hp2 NA19005.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0017 a0001c0002t0024 a0001c0002t0003 a0001c0002t0017 a0001c0002t0024	a0001c0002t0003g0018 a0001c0002t0003g0022 a0001c0002t0003g0023 others(8): Show a0001c0002t0003g0018 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0017g0006 a0001c0002t0017g0007 a0001c0002t0024g0026	11	348	0.0316	-34	c.375 others(51): Show c.3751+886_3751+919delATATATATATATATATATTTTTTTTTTT TTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77671124	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(31): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01256.hp2 HG01361.hp1 HG01433.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02273.hp1 HG02523.hp1 HG03486.hp2 HG03516.hp2 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18950.hp1 NA18954.hp1 NA18965.hp1 NA18969.hp1 NA18980.hp1 NA18981.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19068.hp2 NA19078.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0015 a0001c0002t0018 others(4): Show a0001c0002t0003 a0001c0002t0015 a0001c0002t0018 a0001c0002t0024 a0001c0002t0030 a0001c0002t0031 a0001c0002t0037	a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 others(31): Show a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0035 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0071 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0015g0051 a0001c0002t0015g0074 a0001c0002t0018g0065 a0001c0002t0024g0031 a0001c0002t0030g0085 a0001c0002t0031g0075 a0001c0002t0037g0060	34	347	0.0980	-34	c.375 others(51): Show c.3751+884_3751+917delATATATATATATATATATATTTTTTTTT TTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77671126	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02145.hp1 others(15): Show HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02886.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 NA18991.hp1 NA19087.hp2 NA20129.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0001c0009 a0012c0008 a0001c0002 a0001c0009 a0012c0008	a0001c0002t0003 a0001c0002t0010 a0001c0002t0014 others(4): Show a0001c0002t0003 a0001c0002t0010 a0001c0002t0014 a0001c0002t0034 a0001c0002t0035 a0001c0009t0036 a0012c0008t0003	a0001c0002t0003g0033 a0001c0002t0003g0037 a0001c0002t0003g0039 others(15): Show a0001c0002t0003g0033 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0047 a0001c0002t0003g0070 a0001c0002t0010g0351 a0001c0002t0014g0009 a0001c0002t0014g0011 a0001c0002t0034g0010 a0001c0002t0035g0057 a0001c0009t0036g0015 a0012c0008t0003g0034	18	349	0.0516	-34	c.375 others(51): Show c.3751+882_3751+915delATATATATATATATATATATATTTTTTT TTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RTL1_chr14_100874753_100908722	100908570	TGGATGAC others(27): Show TGGATGACAGAGGGAAACCCGGTCTCCAAAGAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0156 a0001c0003t0014g0156	1	428	0.0023	-34	c.-52 others(45): Show c.-5244_-5211delTTTTCTTTGGAGACCGGGTTTCCCTCTGTCATCC	RTL1	ENSG00000254656.3	transcript	ENST00000649591.1	protein_coding		4849		chr14	TogoVar
RTL4_chrX_112078016_112462514	112082801	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0128 a0001c0002t0007g0128	1	132	0.0076	-34	c.-87 others(43): Show c.-879_-846delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding		214		chrX	TogoVar
RTL4_chrX_112078016_112462514	112117146	CATACACT others(27): Show CATACACTATTTACCACATAATCGTTATATGGTAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG01943.hp1 others(2): Show HG00642.hp1 HG01261.hp1 HG01943.hp1 HG02300.hp1 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0081 a0001c0002t0002g0134 a0002c0001t0001g0082 others(2): Show a0001c0002t0002g0081 a0001c0002t0002g0134 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0084	5	130	0.0385	-34	c.-56 others(55): Show c.-563-13753_-563-13720delCATAATCGTTATATGGTAAATACA CTATTTACCA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112390106	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0117 a0001c0003t0005g0117	1	21	0.0476	-34	c.-28 others(55): Show c.-284-40987_-284-40954delATATATATATATATATATATATAT ATATATATAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59749214	ATATATCT others(27): Show ATATATCTATATATCTATATATATCTATATATATC	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	169	0.0059	-34	c.242 others(51): Show c.242-2767_242-2734delGATATATATAGATATATATAGATATATA GATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241866310	GGGGGGAT others(27): Show GGGGGGATGCTGAGCTGCGGGGGATGCTGAGCTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA19079.hp2 HG02027.hp1 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0002g0001 a0004c0004t0001g0003 a0001c0001t0002g0001 a0004c0004t0001g0003	2	274	0.0073	-34	c.-34 others(45): Show c.-3446_-3413delGGGGGATGCTGAGCTGCGGGGGATGCTGAGCTGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3418		chr2	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	CATATATA others(27): Show CATATATATATATATAGATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG00741.hp1 others(59): Show HG00621.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01243.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03710.hp1 HG04184.hp1 NA18945.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19068.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 others(12): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0004c0004t0008	a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0027 others(38): Show a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0285 a0001c0001t0011g0007 a0001c0001t0014g0013 a0001c0001t0019g0025 a0001c0001t0019g0199 a0001c0001t0021g0204 a0001c0001t0021g0205 a0001c0001t0034g0212 a0001c0001t0035g0235 a0001c0001t0036g0216 a0001c0001t0037g0211 a0001c0001t0038g0215 a0001c0001t0078g0176 a0001c0001t0079g0040 a0001c0001t0080g0169 a0001c0001t0081g0198 a0004c0004t0008g0005 a0004c0004t0008g0168 a0004c0004t0008g0170	62	180	0.3444	-34	c.925 others(49): Show c.925+158_925+191delATATATATATATATATATCTATATATATAT ATAT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUNX1T1_chr8_91949972_92108385	91959458	GTGTGTGT others(27): Show GTGTGTGTGTATATGTGCGTGTGTGTGTGTGTATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0022 a0001c0001t0040g0022	1	128	0.0078	-34	c.75 others(43): Show c.750_*783delTATACACACACACACACGCACATATACACACACA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	12/12	750		chr8	TogoVar
RUNX1_chr21_34782801_35054302	34993601	GCACACAC others(27): Show GCACACACAGGCACACACACAGACACACACACAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01106.hp2 others(26): Show HG00280.hp1 HG00642.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp2 HG02109.hp2 HG02451.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp2 NA19056.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0023 a0001c0001t0029 a0001c0002t0003 a0001c0002t0006 a0001c0005t0002	a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0039 others(26): Show a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0165 a0001c0001t0002g0012 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0004g0010 a0001c0001t0004g0130 a0001c0001t0004g0139 a0001c0001t0005g0089 a0001c0001t0011g0090 a0001c0001t0017g0098 a0001c0001t0023g0106 a0001c0001t0029g0155 a0001c0002t0003g0104 a0001c0002t0003g0108 a0001c0002t0003g0131 a0001c0002t0003g0142 a0001c0002t0006g0053 a0001c0005t0002g0107	29	168	0.1726	-34	c.58+ others(51): Show c.58+55207_58+55240delTCTGTGTGTGTGTCTGTGTGTGTGCCTG TGTGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUVBL2_chr19_48988887_49020970	48990202	CTGCCGCC others(27): Show CTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02451.hp2 others(10): Show HG01243.hp1 HG01891.hp1 HG02451.hp2 HG02647.hp1 HG02965.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0001c0016	a0001c0001t0001 a0001c0003t0002 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0013t0001 a0001c0016t0002	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 others(10): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0013t0001g0299 a0001c0016t0002g0027	13	409	0.0318	-34	c.-37 others(45): Show c.-3709_-3676delTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCG	RUVBL2	ENSG00000183207.15	transcript	ENST00000595090.6	protein_coding		3684		chr19	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp1 HG04228.hp2 HG03471.hp1 HG03516.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0019 a0001c0001 a0001c0003 a0001c0019	a0001c0001t0004 a0001c0003t0002 a0001c0019t0019 a0001c0001t0004 a0001c0003t0002 a0001c0019t0019	a0001c0001t0004g0036 a0001c0003t0002g0065 a0001c0019t0019g0035 a0001c0001t0004g0036 a0001c0003t0002g0065 a0001c0019t0019g0035	3	19	0.1579	-34	c.576 others(51): Show c.576+2954_576+2987delTATATATATATATATATATATATATATA TATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100Z_chr5_76845014_76926650	76906974	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(105): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp2 HG03017.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18943.hp2 NA18946.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18973.hp2 NA18980.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0003 a0002c0001t0001 others(4): Show a0001c0002t0002 a0001c0002t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0019	a0001c0002t0002g0309 a0001c0002t0003g0023 a0001c0002t0003g0069 others(104): Show a0001c0002t0002g0309 a0001c0002t0003g0023 a0001c0002t0003g0069 a0001c0002t0003g0114 a0001c0002t0003g0283 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0033 a0002c0001t0001g0045 a0002c0001t0001g0064 a0002c0001t0001g0072 a0002c0001t0001g0074 a0002c0001t0001g0078 a0002c0001t0001g0079 a0002c0001t0001g0080 a0002c0001t0001g0095 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0120 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0154 a0002c0001t0001g0160 a0002c0001t0001g0175 a0002c0001t0001g0185 a0002c0001t0001g0187 a0002c0001t0001g0191 a0002c0001t0001g0194 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0200 a0002c0001t0001g0201 a0002c0001t0001g0204 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0215 a0002c0001t0001g0218 a0002c0001t0001g0227 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0273 a0002c0001t0001g0274 a0002c0001t0001g0278 a0002c0001t0001g0284 a0002c0001t0001g0288 a0002c0001t0001g0292 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0295 a0002c0001t0001g0302 a0002c0001t0001g0313 a0002c0001t0001g0316 a0002c0001t0001g0318 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0002g0249 a0002c0001t0003g0016 a0002c0001t0003g0040 a0002c0001t0003g0059 a0002c0001t0003g0126 a0002c0001t0003g0153 a0002c0001t0003g0162 a0002c0001t0003g0163 a0002c0001t0003g0167 a0002c0001t0003g0172 a0002c0001t0003g0176 a0002c0001t0003g0207 a0002c0001t0003g0208 a0002c0001t0003g0209 a0002c0001t0003g0210 a0002c0001t0003g0211 a0002c0001t0003g0212 a0002c0001t0003g0214 a0002c0001t0003g0248 a0002c0001t0003g0255 a0002c0001t0003g0263 a0002c0001t0003g0269 a0002c0001t0003g0311 a0002c0001t0003g0321 a0002c0001t0003g0327 a0002c0001t0003g0333 a0002c0001t0004g0240 a0002c0001t0019g0268	108	312	0.3462	-34	c.3- others(51): Show c.3-13741_*3-13708delGTATATATATATATATATATATATATAT ATATAT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	2	0.5000	-34	c.13+ others(51): Show c.13+16005_13+16038delATATATATATATATATATATATATATAT ATATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3			chr8	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02055.hp1 HG02257.hp2 others(5): Show HG00609.hp2 HG02055.hp1 HG02257.hp2 HG06807.hp2 NA18947.hp1 NA19005.hp1 NA19007.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0077 a0001c0006t0004 a0001c0006t0042 a0002c0003t0001	a0001c0001t0002g0237 a0001c0001t0004g0102 a0001c0001t0007g0034 others(5): Show a0001c0001t0002g0237 a0001c0001t0004g0102 a0001c0001t0007g0034 a0001c0001t0008g0012 a0001c0001t0077g0214 a0001c0006t0004g0069 a0001c0006t0042g0068 a0002c0003t0001g0044	8	45	0.1778	-34	c.197 others(53): Show c.197-23579_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMHD1_chr20_36885229_36956708	36932712	CGGCAAGT others(27): Show CGGCAAGTTTGGTTTTGTAAGATGATAAGAGTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA21309.hp2 HG01106.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0329 a0001c0001t0001g0084 a0001c0001t0001g0329	2	338	0.0059	-34	c.510 others(51): Show c.510-1871_510-1838delAAAACTCTTATCATCTTACAAAACCAAA CTTGCC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	4/15			chr20	TogoVar

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