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	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
RIMBP2_chr12_130391133_130721299	130713215	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0002 a0003c0030t0002	a0003c0030t0002g0137 a0003c0030t0002g0137	1	180	0.0056	48	c.-35 others(67): Show c.-352+3006_-352+3007insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713219	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03130.hp1 HG03486.hp2 HG01074.hp2 HG03130.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0009 a0001c0001 a0001c0005 a0002c0009	a0001c0001t0001 a0001c0005t0001 a0002c0009t0001 a0001c0001t0001 a0001c0005t0001 a0002c0009t0001	a0001c0001t0001g0127 a0001c0005t0001g0129 a0002c0009t0001g0128 a0001c0001t0001g0127 a0001c0005t0001g0129 a0002c0009t0001g0128	3	180	0.0167	48	c.-35 others(67): Show c.-352+3002_-352+3003insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMS2_chr8_103495610_104259430	103587409	G G	GAAGAAAG others(41): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03492.hp1 HG02155.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0041 a0002c0002t0002g0080 a0001c0001t0004g0041 a0002c0002t0002g0080	2	172	0.0116	48	c.177 others(67): Show c.177-64781_177-64734dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA		RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	334	0.0030	48	c.249 others(65): Show c.249+5101_249+5102insATATATATATATATATATATATATATAT ATATATATATATATATATAT		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF126_chr19_642526_668214	667346	G G	GTCCCAGG others(41): Show GTCCCAGGCGGACCAAGCCCAGGCGGACCACGTCCCAGGCGGACCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 NA18939.hp2 HG02738.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0242 a0001c0001t0001g0190 a0001c0001t0001g0242	2	434	0.0046	48	c.-42 others(59): Show c.-4226_-4225insACGTGGTCCGCCTGGGACGTGGTCCGCCTGGGCT TGGTCCGCCTGGGA		RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding					4133		chr19	TogoVar
RNF126_chr19_642526_668214	667440	G G	GTCCCAGG others(41): Show GTCCCAGGCGGACCACGTCCCAGGCGGACCAAGCCCAGGCGGACCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG03017.hp2 HG04115.hp2 others(6): Show HG02148.hp1 HG03017.hp2 HG04115.hp2 HG04228.hp1 NA18979.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0001g0244 others(6): Show a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0002t0001g0200 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0252 a0002c0003t0001g0236	9	434	0.0207	48	c.-43 others(59): Show c.-4320_-4319insACGTGGTCCGCCTGGGCTTGGTCCGCCTGGGACG TGGTCCGCCTGGGA		RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding					4227		chr19	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0146	1	340	0.0029	48	c.693 others(67): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATATATATATATATATATATA		RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8						chr5	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	374	0.0027	48	c.-48 others(65): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATATATATATATATATATAT		RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5						chr11	TogoVar
RNF169_chr11_74743849_74847413	74785162	T T	TATATATA others(41): Show TATATATATATGATATATATATATGATATATATATGATATATATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0271 a0001c0001t0027g0271	1	354	0.0028	48	c.503 others(65): Show c.503-4452_503-4405dupATATATATATATGATATATATATGATAT ATATATATGATATATATATG		RNF169	ENSG00000166439.6	transcript	ENST00000299563.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTATATAG others(41): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG01099.hp1 others(11): Show HG00544.hp1 HG00609.hp1 HG01099.hp1 HG01515.hp1 HG01934.hp2 HG02027.hp1 HG02293.hp1 HG03831.hp1 NA18941.hp1 NA18953.hp2 NA18955.hp1 NA18974.hp1 NA18988.hp2 NA19006.hp1	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0003 a0004c0004 a0009c0014 a0002c0003 a0004c0004 a0009c0014	a0002c0003t0002 a0004c0004t0002 a0009c0014t0002 a0002c0003t0002 a0004c0004t0002 a0009c0014t0002	a0002c0003t0002g0385 a0002c0003t0002g0387 a0002c0003t0002g0388 others(11): Show a0002c0003t0002g0385 a0002c0003t0002g0387 a0002c0003t0002g0388 a0002c0003t0002g0392 a0004c0004t0002g0123 a0004c0004t0002g0127 a0004c0004t0002g0131 a0004c0004t0002g0138 a0004c0004t0002g0159 a0004c0004t0002g0162 a0004c0004t0002g0163 a0009c0014t0002g0338 a0009c0014t0002g0360 a0009c0014t0002g0363	14	426	0.0329	48	c.22 others(59): Show c.2254_*2255insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2060		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882050	A A	ATACATCT others(41): Show ATACATCTATATAGATACATCTATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	426	0.0024	48	c.23 others(59): Show c.2324_*2325insTACATCTATATAGATACATCTATATAGATACATC TATATAGATACATC		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2130		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882151	G G	GATACATC others(41): Show GATACATCTATATAGATAGATATATAGATACATCTATATAGATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0322 a0011c0012t0001g0325 a0011c0012t0001g0322 a0011c0012t0001g0325	2	426	0.0047	48	c.24 others(59): Show c.2425_*2426insATACATCTATATAGATAGATATATAGATACATCT ATATAGATAGATAT		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2231		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882169	G G	GATATATA others(41): Show GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	426	0.0024	48	c.24 others(59): Show c.2443_*2444insATATATAGATACATCTATATAGATATATAGATAC ATCTATATAGATAT		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2249		chr13	TogoVar
RNF213_chr17_80255852_80403794	80314196	A A	ATGGTGGA others(41): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00741.hp1 others(13): Show HG00408.hp1 HG00438.hp2 HG00741.hp1 HG01891.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02647.hp2 HG03491.hp1 HG03831.hp2 NA18942.hp2 NA18947.hp2 NA18957.hp2 NA18970.hp1 NA18983.hp2	a0001 a0002 a0027 others(9): Show a0001 a0002 a0027 a0034 a0041 a0058 a0063 a0064 a0065 a0085 a0094 a0099	a0001c0001 a0001c0006 a0002c0002 others(10): Show a0001c0001 a0001c0006 a0002c0002 a0027c0025 a0034c0140 a0041c0102 a0058c0130 a0063c0052 a0064c0059 a0065c0062 a0085c0086 a0094c0041 a0099c0043	a0001c0001t0001 a0001c0001t0002 a0001c0006t0010 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0010 a0002c0002t0051 a0027c0025t0013 a0034c0140t0013 a0041c0102t0003 a0058c0130t0031 a0063c0052t0073 a0064c0059t0060 a0065c0062t0070 a0085c0086t0007 a0094c0041t0061 a0099c0043t0003	a0001c0001t0001g0118 a0001c0001t0001g0261 a0001c0001t0001g0267 others(13): Show a0001c0001t0001g0118 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0002g0139 a0001c0006t0010g0119 a0002c0002t0051g0256 a0027c0025t0013g0260 a0034c0140t0013g0179 a0041c0102t0003g0020 a0058c0130t0031g0012 a0063c0052t0073g0242 a0064c0059t0060g0137 a0065c0062t0070g0127 a0085c0086t0007g0204 a0094c0041t0061g0233 a0099c0043t0003g0045	16	292	0.0548	48	c.281 others(67): Show c.2811+1061_2811+1062insGTGGTGATGGTGGAGGTGGTGGAGGT AATGGAGGTGATGGTGGTGGTG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315249	G G	GTGGTGGT others(41): Show GTGGTGGTGGTGGTGGTGGTGGTGGTAATGGAGGTGATGGTGGTGGTAC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0027 a0027	a0027c0025 a0027c0025	a0027c0025t0074 a0027c0025t0074	a0027c0025t0074g0262 a0027c0025t0074g0262	1	292	0.0034	48	c.281 others(67): Show c.2812-1936_2812-1935insTGGTGGTGGTGGTGGTGGTGGTAATG GAGGTGATGGTGGTGGTACTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF44_chr5_176521712_176542402	176530239	C C	CGGGCCTG others(41): Show CGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18965.hp2 NA18967.hp1 others(5): Show HG01952.hp2 NA18965.hp2 NA18967.hp1 NA18975.hp2 NA18984.hp2 NA18989.hp2 NA18994.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0185 a0001c0001t0002g0064 a0001c0001t0002g0220 others(4): Show a0001c0001t0001g0185 a0001c0001t0002g0064 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0234	8	444	0.0180	48	c.802 others(61): Show c.802-34_802-33insACCGGGCTGACTTGCACGTGGGCTCCGGGGCG GCTGGGAGGCAGGCCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530239	C C	CGGGCCTG others(41): Show CGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp1 HG02056.hp1 others(16): Show HG00609.hp1 HG02015.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02809.hp1 HG03710.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp2 NA18961.hp1 NA18961.hp2 NA18999.hp1 NA19003.hp2 NA19010.hp2 NA19056.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0002	a0001c0001t0001g0062 a0001c0001t0001g0123 a0001c0001t0002g0006 others(4): Show a0001c0001t0001g0062 a0001c0001t0001g0123 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0223 a0001c0001t0003g0116 a0001c0007t0002g0219	19	444	0.0428	48	c.802 others(61): Show c.802-34_802-33insACCGGGCTGACTTGCACCTGGGCTCCGGGGCG GCTGGGAGGCAGGCCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530357	C C	CGGAGCCC others(41): Show CGGAGCCCACGTGCAAGTCAGCCCAGCAGGCCTGCCTCCCAGCTGCCTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG03453.hp1 others(1): Show HG02559.hp1 HG03225.hp2 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0204 a0001c0001t0001g0021 a0001c0001t0001g0204	4	444	0.0090	48	c.802 others(63): Show c.802-152_802-151insCAGGCAGCTGGGAGGCAGGCCTGCTGGGCT GACTTGCACGTGGGCTCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530387	C C	CCTGCCTC others(41): Show CCTGCCTCCCAGCTGCCTGGGAGCCCAGATGCAGGTCGGCCCAGCGGGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0020 a0001c0001t0016g0020	3	444	0.0068	48	c.802 others(63): Show c.802-182_802-181insACCCGCTGGGCCGACCTGCATCTGGGCTCC CAGGCAGCTGGGAGGCAG		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530414	G G	GGTGCAAG others(41): Show GGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	444	0.0023	48	c.801 others(63): Show c.801+167_801+168insGTGGGCTCCGGGGCGGCTGGGAGGCAGGCC CACCGGGCTGACTTGCAC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530424	A A	AGCCCGGT others(41): Show AGCCCGGTGGGCCTGCCTCCCAGCTGCCTGGGAGCCCAGATGCAGGTCG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0195 a0001c0001t0032g0195	1	444	0.0023	48	c.801 others(63): Show c.801+157_801+158insCGACCTGCATCTGGGCTCCCAGGCAGCTGG GAGGCAGGCCCACCGGGC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530432	A A	AGGCCTGC others(41): Show AGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	444	0.0023	48	c.801 others(63): Show c.801+102_801+149dupCACCGGGCTGACTTGCACGTGGGCTCCGGG GCGGCTGGGAGGCAGGCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNFT2_chr12_116733315_116858631	116750859	T T	TATTATAT others(41): Show TATTATATATATATATAATATATATTATATATATATAATATATATATTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0065 a0001c0003t0014g0065	1	268	0.0037	48	c.550 others(63): Show c.550+552_550+553insATTATATATATATATAATATATATTATATA TATATAATATATATATTA		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	4/10						chr12	TogoVar
RNFT2_chr12_116733315_116858631	116841822	T T	TATATATA others(41): Show TATATATATATAAATATATATATAAATATATATAAAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0057 a0001c0006t0006g0057	1	268	0.0037	48	c.120 others(67): Show c.1200+5562_1200+5609dupTAAATATATATAAAAATATATATATA AATATATATATAAATATATATA		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO1_chr3_78592239_79772998	78718835	A A	AGAGGGAG others(41): Show AGAGGGAGAGAGGGAGGGAGGGAGAGAGGGAGGGAGGGAGGCAGGGAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02717.hp2 others(6): Show HG01243.hp2 HG02280.hp2 HG02717.hp2 HG03139.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0001c0005t0002 a0001c0005t0005	a0001c0001t0014g0041 a0001c0002t0001g0020 a0001c0002t0001g0026 others(6): Show a0001c0001t0014g0041 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0002t0004g0017 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0005g0004	9	44	0.2046	48	c.658 others(63): Show c.658-953_658-952insCCTCCCTGCCTCCCTCCCTCCCTCTCTCCC TCCCTCCCTCTCTCCCTC		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	5/30						chr3	TogoVar
ROBO1_chr3_78592239_79772998	79575227	A A	AATATATA others(41): Show AATATATATAAATATATATAACAAATATATATAAATATATATAACAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG03041.hp1 others(4): Show HG01884.hp2 HG02280.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG06807.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0003t0006 a0002c0004t0007	a0001c0001t0001g0019 a0001c0001t0005g0035 a0001c0002t0001g0020 others(4): Show a0001c0001t0001g0019 a0001c0001t0005g0035 a0001c0002t0001g0020 a0001c0002t0003g0016 a0001c0003t0006g0018 a0002c0004t0007g0009 a0002c0004t0007g0010	7	44	0.1591	48	c.88+ others(65): Show c.88+14549_88+14596dupATTTGTTATATATATTTATATATATTTG TTATATATATTTATATATAT		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30						chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108229	C C	CATATATA others(41): Show CATATATATGTATACACATATGCATATATATGTATACACATATGCATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0042 a0001c0001t0029g0042	1	160	0.0063	48	c.388 others(65): Show c.388+9920_388+9967dupGTATACACATATGCATATATATATATGT ATACACATATGCATATATAT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20958934	A A	ATATAAAA others(41): Show ATATAAAAAATAATATATATTTTATATAATATATATAATATATATATTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00639.hp2 others(36): Show HG00438.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01981.hp1 HG02040.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG03710.hp2 NA18955.hp2 NA18978.hp2 NA18989.hp1 NA18991.hp2 NA19001.hp2 NA19003.hp2 NA19010.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0031	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(36): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0012g0009 a0001c0001t0012g0017 a0001c0001t0017g0211 a0001c0001t0017g0212 a0001c0001t0031g0210	39	212	0.1840	48	c.351 others(65): Show c.3512+905_3512+906insAAATATATATATTATATATATTATATAA AATATATATTATTTTTTATA		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32						chr18	TogoVar
ROCK1_chr18_20941906_21116813	20958934	A A	ATATAAAA others(41): Show ATATAAAAAATAATATATATTTTATATAATATATATATTATATATATTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18962.hp2 NA18969.hp2 others(4): Show NA18944.hp1 NA18962.hp2 NA18969.hp2 NA19064.hp1 NA19068.hp1 NA19081.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0166 others(4): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0183	7	212	0.0330	48	c.351 others(65): Show c.3512+905_3512+906insAAATATATATAATATATATATTATATAA AATATATATTATTTTTTATA		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32						chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959132	A A	ATATATAT others(41): Show ATATATATATTATATAATATATATATTATATATTATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	212	0.0047	48	c.351 others(65): Show c.3512+707_3512+708insATATATATATTATATAATATATAATATA TATATTATATAATATATATA		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32						chr18	TogoVar
RORA_chr15_60483284_61234302	60516039	T T	TTATATAT others(41): Show TTATATATATTTATATATTTATATATATTTATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02622.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0035 a0001c0001t0023g0020 a0001c0001t0001g0035 a0001c0001t0023g0020	2	118	0.0170	48	c.283 others(65): Show c.283-1283_283-1282insTAAATATATAAATATATATAAATATATA TAAATATATAAATATATATA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10						chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01358.hp1 HG02965.hp1 HG00438.hp2 HG01358.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0001t0009 a0001c0006t0004 a0001c0001t0005 a0001c0001t0009 a0001c0006t0004	a0001c0001t0005g0049 a0001c0001t0009g0010 a0001c0006t0004g0078 a0001c0001t0005g0049 a0001c0001t0009g0010 a0001c0006t0004g0078	3	118	0.0254	48	c.166 others(69): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATATATATATATATAT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RORB_chr9_74492335_74698177	74532803	C C	CGTATATA others(41): Show CGTATATATATACACATATATATGTGTATATATATACACATATATATGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03195.hp1 HG02280.hp1 HG02572.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0038 a0001c0001t0001 a0001c0001t0010 a0001c0001t0038	a0001c0001t0001g0160 a0001c0001t0010g0159 a0001c0001t0038g0161 a0001c0001t0001g0160 a0001c0001t0010g0159 a0001c0001t0038g0161	3	226	0.0133	48	c.7+3 others(63): Show c.7+34866_7+34867insGTGTATATATATACACATATATATGTGTAT ATATATACACATATATAT		RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RP1L1_chr8_10601349_10660143	10607512	T T	TACCTTCT others(41): Show TACCTTCTGACTCTGGCTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18941.hp2 NA18960.hp2 NA18962.hp1 NA18941.hp2 NA18960.hp2 NA18962.hp1	a0008 a0125 a0008 a0125	a0008c0140 a0008c0141 a0125c0085 a0008c0140 a0008c0141 a0125c0085	a0008c0140t0002 a0008c0141t0002 a0125c0085t0002 a0008c0140t0002 a0008c0141t0002 a0125c0085t0002	a0008c0140t0002g0044 a0008c0141t0002g0184 a0125c0085t0002g0043 a0008c0140t0002g0044 a0008c0141t0002g0184 a0125c0085t0002g0043	3	414	0.0073	48	c.653 others(57): Show c.6538_6585dupGTAGAGGCCCCAGAGGCAGAAGGGGAGGCCCAGCCA GAGTCAGAAGGT	p.Gly others(63): Show p.Gly2195_Ile2196insValGluAlaProGluAlaGluGlyGluAla GlnProGluSerGluGly	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	6850/8014	6585/7203	2195/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10608384	C C	CCTTCTGA others(41): Show CCTTCTGACTCTGGCTGGACCTCCCATTCTGCCTCTGGGGTCTCTACAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp1 HG00621.hp1	a0136 a0136	a0136c0094 a0136c0094	a0136c0094t0004 a0136c0094t0004	a0136c0094t0004g0104 a0136c0094t0004g0104	1	414	0.0024	48	c.566 others(57): Show c.5666_5713dupATGTAGAGACCCCAGAGGCAGAATGGGAGGTCCAGC CAGAGTCAGAAG	p.Asp others(15): Show p.Asp1889_Glu1904dup	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	5978/8014	5713/7203	1905/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(41): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01891.hp1 HG02809.hp2 HG03098.hp1 others(1): Show HG01891.hp1 HG02809.hp2 HG03098.hp1 HG03471.hp2	a0016 a0128 a0016 a0128	a0016c0054 a0016c0150 a0128c0088 a0016c0054 a0016c0150 a0128c0088	a0016c0054t0005 a0016c0150t0005 a0128c0088t0005 a0016c0054t0005 a0016c0150t0005 a0128c0088t0005	a0016c0054t0005g0369 a0016c0054t0005g0370 a0016c0150t0005g0404 others(1): Show a0016c0054t0005g0369 a0016c0054t0005g0370 a0016c0150t0005g0404 a0128c0088t0005g0372	4	414	0.0097	48	c.402 others(57): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGGGACTAAA	p.Lys others(63): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(41): Show CTTTAGTTCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp1 HG02109.hp1	a0016 a0016	a0016c0174 a0016c0174	a0016c0174t0005 a0016c0174t0005	a0016c0174t0005g0406 a0016c0174t0005g0406	1	414	0.0024	48	c.402 others(57): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGGAACTAAA	p.Lys others(63): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(41): Show CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01106.hp1 HG01978.hp2 HG01106.hp1 HG01978.hp2	a0042 a0042	a0042c0038 a0042c0038	a0042c0038t0003 a0042c0038t0003	a0042c0038t0003g0309 a0042c0038t0003g0317 a0042c0038t0003g0309 a0042c0038t0003g0317	2	414	0.0048	48	c.397 others(57): Show c.3979_4026dupACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAA	p.Lys others(63): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(34): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01975.hp1 HG02040.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03579.hp2 NA18612.hp1 NA18944.hp1 NA18948.hp2 NA18952.hp2 NA18989.hp1 NA18993.hp2 NA19011.hp2 NA19030.hp1 NA19055.hp2 NA19066.hp1 NA19079.hp1	a0007 a0013 a0019 others(17): Show a0007 a0013 a0019 a0023 a0035 a0038 a0049 a0060 a0061 a0064 a0073 a0077 a0078 a0082 a0096 a0099 a0105 a0108 a0111 a0152	a0007c0006 a0007c0116 a0013c0209 others(18): Show a0007c0006 a0007c0116 a0013c0209 a0019c0014 a0023c0019 a0035c0053 a0038c0056 a0049c0033 a0060c0191 a0061c0190 a0064c0188 a0073c0172 a0077c0165 a0078c0166 a0082c0170 a0096c0200 a0099c0202 a0105c0197 a0108c0152 a0111c0103 a0152c0117	a0007c0006t0001 a0007c0116t0001 a0013c0209t0001 others(20): Show a0007c0006t0001 a0007c0116t0001 a0013c0209t0001 a0019c0014t0001 a0023c0019t0001 a0023c0019t0007 a0035c0053t0015 a0035c0053t0016 a0038c0056t0018 a0049c0033t0012 a0060c0191t0010 a0061c0190t0003 a0064c0188t0003 a0073c0172t0008 a0077c0165t0010 a0078c0166t0010 a0082c0170t0009 a0096c0200t0013 a0099c0202t0007 a0105c0197t0017 a0108c0152t0001 a0111c0103t0001 a0152c0117t0001	a0007c0006t0001g0059 a0007c0006t0001g0078 a0007c0006t0001g0081 others(33): Show a0007c0006t0001g0059 a0007c0006t0001g0078 a0007c0006t0001g0081 a0007c0006t0001g0123 a0007c0006t0001g0137 a0007c0006t0001g0138 a0007c0006t0001g0195 a0007c0006t0001g0205 a0007c0006t0001g0217 a0007c0116t0001g0018 a0013c0209t0001g0064 a0019c0014t0001g0140 a0019c0014t0001g0182 a0019c0014t0001g0193 a0019c0014t0001g0222 a0023c0019t0001g0075 a0023c0019t0001g0102 a0023c0019t0007g0282 a0035c0053t0015g0408 a0035c0053t0016g0384 a0038c0056t0018g0003 a0049c0033t0012g0278 a0049c0033t0012g0279 a0060c0191t0010g0032 a0061c0190t0003g0263 a0064c0188t0003g0391 a0073c0172t0008g0345 a0077c0165t0010g0033 a0078c0166t0010g0029 a0082c0170t0009g0264 a0096c0200t0013g0252 a0099c0202t0007g0379 a0105c0197t0017g0403 a0108c0152t0001g0030 a0111c0103t0001g0249 a0152c0117t0001g0084	37	414	0.0894	48	c.401 others(57): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp2 HG01993.hp2 HG00639.hp2 HG01993.hp2	a0043 a0043	a0043c0036 a0043c0036	a0043c0036t0005 a0043c0036t0005	a0043c0036t0005g0315 a0043c0036t0005g0327 a0043c0036t0005g0315 a0043c0036t0005g0327	2	414	0.0048	48	c.401 others(57): Show c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGlu GluGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00621.hp2 HG00673.hp2 others(42): Show HG00140.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02083.hp2 HG02148.hp1 HG02300.hp1 HG03098.hp2 HG03225.hp2 HG03486.hp1 HG03654.hp1 HG03654.hp2 HG04184.hp1 NA18747.hp2 NA18940.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18959.hp2 NA18966.hp2 NA18970.hp2 NA18979.hp1 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19074.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1	a0002 a0008 a0033 others(9): Show a0002 a0008 a0033 a0047 a0057 a0103 a0107 a0115 a0120 a0150 a0151 a0165	a0002c0001 a0002c0111 a0002c0133 others(11): Show a0002c0001 a0002c0111 a0002c0133 a0008c0144 a0033c0026 a0047c0046 a0057c0194 a0103c0198 a0107c0154 a0115c0071 a0120c0080 a0150c0107 a0151c0120 a0165c0109	a0002c0001t0001 a0002c0001t0007 a0002c0111t0001 others(13): Show a0002c0001t0001 a0002c0001t0007 a0002c0111t0001 a0002c0133t0007 a0008c0144t0001 a0033c0026t0001 a0033c0026t0007 a0047c0046t0001 a0057c0194t0030 a0103c0198t0009 a0107c0154t0006 a0115c0071t0021 a0120c0080t0001 a0150c0107t0001 a0151c0120t0008 a0165c0109t0001	a0002c0001t0001g0042 a0002c0001t0001g0049 a0002c0001t0001g0050 others(42): Show a0002c0001t0001g0042 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0063 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0083 a0002c0001t0001g0091 a0002c0001t0001g0094 a0002c0001t0001g0100 a0002c0001t0001g0106 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0111 a0002c0001t0001g0118 a0002c0001t0001g0131 a0002c0001t0001g0134 a0002c0001t0001g0145 a0002c0001t0001g0161 a0002c0001t0001g0170 a0002c0001t0001g0197 a0002c0001t0001g0202 a0002c0001t0001g0211 a0002c0001t0001g0213 a0002c0001t0001g0221 a0002c0001t0001g0228 a0002c0001t0001g0232 a0002c0001t0007g0270 a0002c0001t0007g0331 a0002c0111t0001g0037 a0002c0133t0007g0341 a0008c0144t0001g0112 a0033c0026t0001g0077 a0033c0026t0007g0283 a0033c0026t0007g0284 a0047c0046t0001g0072 a0047c0046t0001g0198 a0057c0194t0030g0396 a0103c0198t0009g0374 a0107c0154t0006g0017 a0115c0071t0021g0022 a0120c0080t0001g0101 a0150c0107t0001g0229 a0151c0120t0008g0274 a0165c0109t0001g0126	45	414	0.1087	48	c.401 others(57): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610095	C C	CCTCTTCT others(41): Show CCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp2 HG01884.hp2	a0091 a0091	a0091c0158 a0091c0158	a0091c0158t0003 a0091c0158t0003	a0091c0158t0003g0294 a0091c0158t0003g0294	1	414	0.0024	48	c.400 others(57): Show c.4002_4003insAGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGG CTGCAAGAAGAG	p.Glu others(63): Show p.Glu1334_Gly1335insArgValGlnLeuGluGlyThrLysValIle GluGlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4267/8014	4002/7203	1334/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610095	C C	CCTCTTCT others(41): Show CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG02818.hp2 HG02970.hp1 others(6): Show HG00408.hp1 HG02818.hp2 HG02970.hp1 HG03490.hp1 HG03492.hp1 HG03834.hp2 HG04199.hp2 NA19074.hp1 NA19240.hp2	a0029 a0034 a0072 others(2): Show a0029 a0034 a0072 a0089 a0098	a0029c0017 a0034c0016 a0072c0180 others(2): Show a0029c0017 a0034c0016 a0072c0180 a0089c0157 a0098c0199	a0029c0017t0003 a0029c0017t0006 a0034c0016t0003 others(4): Show a0029c0017t0003 a0029c0017t0006 a0034c0016t0003 a0034c0016t0006 a0072c0180t0003 a0089c0157t0003 a0098c0199t0011	a0029c0017t0003g0343 a0029c0017t0003g0347 a0029c0017t0006g0010 others(5): Show a0029c0017t0003g0343 a0029c0017t0003g0347 a0029c0017t0006g0010 a0034c0016t0003g0004 a0034c0016t0006g0095 a0072c0180t0003g0261 a0089c0157t0003g0267 a0098c0199t0011g0028	9	414	0.0217	48	c.400 others(57): Show c.4002_4003insAGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGG CTGCAAGAAGAG	p.Glu others(63): Show p.Glu1334_Gly1335insArgValGlnLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4267/8014	4002/7203	1334/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp2 HG00733.hp2 others(43): Show HG00099.hp2 HG00280.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01517.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02145.hp1 HG02280.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03239.hp2 HG03490.hp2 HG03710.hp1 HG03834.hp1 NA18906.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0005 a0009 a0015 others(11): Show a0005 a0009 a0015 a0017 a0018 a0092 a0093 a0110 a0141 a0145 a0147 a0148 a0166 a0173	a0005c0003 a0009c0009 a0009c0163 others(15): Show a0005c0003 a0009c0009 a0009c0163 a0015c0012 a0017c0018 a0017c0059 a0018c0044 a0018c0058 a0018c0097 a0092c0161 a0093c0162 a0110c0064 a0141c0070 a0145c0068 a0147c0099 a0148c0098 a0166c0106 a0173c0060	a0005c0003t0003 a0005c0003t0006 a0009c0009t0003 others(18): Show a0005c0003t0003 a0005c0003t0006 a0009c0009t0003 a0009c0009t0006 a0009c0163t0006 a0015c0012t0003 a0017c0018t0003 a0017c0018t0006 a0017c0059t0003 a0018c0044t0003 a0018c0058t0003 a0018c0097t0003 a0092c0161t0006 a0093c0162t0009 a0110c0064t0003 a0141c0070t0003 a0145c0068t0003 a0147c0099t0003 a0148c0098t0003 a0166c0106t0003 a0173c0060t0005	a0005c0003t0003g0299 a0005c0003t0003g0300 a0005c0003t0003g0302 others(43): Show a0005c0003t0003g0299 a0005c0003t0003g0300 a0005c0003t0003g0302 a0005c0003t0003g0304 a0005c0003t0003g0307 a0005c0003t0003g0319 a0005c0003t0003g0320 a0005c0003t0003g0321 a0005c0003t0003g0324 a0005c0003t0003g0326 a0005c0003t0003g0329 a0005c0003t0003g0354 a0005c0003t0003g0357 a0005c0003t0003g0358 a0005c0003t0003g0407 a0005c0003t0006g0141 a0009c0009t0003g0382 a0009c0009t0003g0387 a0009c0009t0003g0389 a0009c0009t0003g0400 a0009c0009t0006g0242 a0009c0009t0006g0246 a0009c0009t0006g0251 a0009c0163t0006g0247 a0015c0012t0003g0305 a0015c0012t0003g0306 a0015c0012t0003g0310 a0015c0012t0003g0311 a0015c0012t0003g0314 a0017c0018t0003g0296 a0017c0018t0003g0383 a0017c0018t0006g0241 a0017c0059t0003g0293 a0018c0044t0003g0328 a0018c0044t0003g0338 a0018c0058t0003g0367 a0018c0097t0003g0398 a0092c0161t0006g0219 a0093c0162t0009g0366 a0110c0064t0003g0316 a0141c0070t0003g0385 a0145c0068t0003g0308 a0147c0099t0003g0323 a0148c0098t0003g0353 a0166c0106t0003g0313 a0173c0060t0005g0386	46	414	0.1111	48	c.397 others(57): Show c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGlu GluArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610143	C C	TCTCTTCT others(41): Show TCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp2 HG02451.hp2	a0146 a0146	a0146c0069 a0146c0069	a0146c0069t0007 a0146c0069t0007	a0146c0069t0007g0297 a0146c0069t0007g0297	1	414	0.0024	48	c.395 others(57): Show c.3955_3956insGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGC TGCAAGAAGAGA	p.Ala others(61): Show p.Ala1319delinsGlyValGlnLeuGluGlyThrLysValIleGluGl yLeuGlnGluGluThr	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4220/8014	3955/7203	1319/2400			chr8	TogoVar
RP2_chrX_46832043_46887358	46847717	T T	TATATGTG others(41): Show TATATGTGTGTGTGTATATACACACATATGTGTGTGTGTATATACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02647.hp1 HG01943.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0175 a0001c0001t0001g0031 a0001c0001t0001g0175	2	274	0.0073	48	c.103 others(65): Show c.103-5756_103-5709dupATGTGTGTGTGTATATACACACATATGT GTGTGTGTATATACACACAT		RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RP2_chrX_46832043_46887358	46847787	C C	CATATGTG others(41): Show CATATGTGTGTGTGTATATACACACATATGTGTGTGTATATACACACAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	274	0.0037	48	c.103 others(65): Show c.103-5687_103-5686insATGTGTGTGTGTATATACACACATATGT GTGTGTATATACACACATAT		RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA2_chr1_27886524_27919575	27916916	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCTCCCTCGCCTTCCTTCCTCCTCCTTCCTTCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	364	0.0028	48	c.-24 others(59): Show c.-2474_-2473insAGGAAGAAGGAAGGAGGAGGAAGGAAGGCGAGGG AGGAGGGAGGGAGG		RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding					2342		chr1	TogoVar
RPA3_chr7_7631518_7723607	7678803	T T	TATATATT others(41): Show TATATATTTATGTATTTAGTTTATAAATATTTATATATTTAGTTTATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG02109.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0103 a0001c0001t0012g0293 a0001c0001t0001g0103 a0001c0001t0012g0293	2	308	0.0065	48	c.-75 others(67): Show c.-758+7026_-758+7027insTTATAAACTAAATATATAAATATTTA TAAACTAAATACATAAATATAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(41): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01071.hp1 NA18974.hp2 HG00639.hp2 HG01071.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0181 a0001c0001t0046 a0001c0001t0181	a0001c0001t0046g0005 a0001c0001t0046g0139 a0001c0001t0181g0136 a0001c0001t0046g0005 a0001c0001t0046g0139 a0001c0001t0181g0136	3	266	0.0113	48	c.-24 others(57): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA		RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22				36413	INFO_REALIGN_3_PRIME	chr12	TogoVar

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