Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OR8B8_chr11_124432445_124450696	124443075	T T	TTTCACCC others(183): Show TTTCACCCTATTGATCTGGATGTTTAGACAGGTTTCACCCTATTGATCTG GATGTTTAGGCAGGTTTCACCCTATTGATCTGGATGTTTAGGCAGGTTTC ACCCTATTGATCTGGATGTTTAGGCAGGTTTCACCTATTGATCTGGATGT TTAGACAGGTTTCACCCTATTGATCTGGATGTTTAGGCAGG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	420	0.0024	190	c.-15 others(209): Show c.-152-1453_-152-1452insCCTGCCTAAACATCCAGATCAATAGG GTGAAACCTGTCTAAACATCCAGATCAATAGGTGAAACCTGCCTAAACAT CCAGATCAATAGGGTGAAACCTGCCTAAACATCCAGATCAATAGGGTGAA ACCTGCCTAAACATCCAGATCAATAGGGTGAAACCTGTCTAAACATCCAG ATCAATAGGGTGAA	OR8B8	ENSG00000197125.3	transcript	ENST00000642064.1	protein_coding	1/2			chr11	TogoVar
P2RX5_chr17_3668227_3701155	3685849	C C	CCAGCCTG others(183): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGG CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp2 NA19030.hp1 HG02145.hp2 NA18522.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0211 a0002c0002t0001g0218 a0002c0002t0001g0001 a0002c0002t0001g0211 a0002c0002t0001g0218	3	333	0.0090	190	c.981 others(207): Show c.981+2162_981+2163insACGTTGGGAGGGTCCCTGGGGGCCCCGC TGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGGGGGACGTTGGGA GGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGG GGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCT GTTCTCAGGCTG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685849	C C	CCAGCCTG others(183): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGG CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG03130.hp1 others(3): Show HG02451.hp1 HG02622.hp2 HG03130.hp1 HG03139.hp1 NA20129.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0021 a0002c0002t0001g0196 others(1): Show a0002c0002t0001g0007 a0002c0002t0001g0021 a0002c0002t0001g0196 a0002c0002t0001g0269	6	336	0.0179	190	c.981 others(207): Show c.981+2162_981+2163insACGTTGGGAGGGTCCCTGGGGGCCCCGC TGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGGGGGACGTTGGGA GGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGCGGG GGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCT GTTCTCAGGCTG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686455	C C	CAGAACAG others(183): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	328	0.0030	190	c.981 others(207): Show c.981+1556_981+1557insCAGGCTGGGAGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTC TCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCG TTCTCCTGTTCT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PABIR2_chrX_134764566_134802205	134788146	T T	TACGTTAT others(183): Show TACGTTATATATGTGTAATATATACACGTTATATGTGTAATATATACACG TTATATATGTGTAATATATACACGTTATATATGTGTAATATATACACGTT ATATATGTGTAATATATACACGTTATATATGTGTAATATATACACGTTAT ATATGTGTAATATATACACGTTATATATGTGTAATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	1	136	0.0074	190	c.435 others(205): Show c.435+583_435+584insGTATATATTACACATATATAACGTGTATAT ATTACACATATATAACGTGTATATATTACACATATATAACGTGTATATAT TACACATATATAACGTGTATATATTACACATATATAACGTGTATATATTA CACATATATAACGTGTATATATTACACATATAACGTGTATATATTACACA TATATAACGT	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PACS2_chr14_105309748_105403147	105349924	T T	TGCAGGAC others(183): Show TGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCG AGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGG AGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTA ATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	159	0.0063	190	c.207 others(207): Show c.207+1468_207+1469insGAGAACTTCCAGGAGAGCGTGGCTAATA GCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGA GAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGA GCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAA TAGCAGGACCCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARD3_chr10_34104561_34820296	34605777	C C	CTATATAT others(183): Show CTATATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATA TATATATATCTCCTATATATATATCTCCTATATATATATATCTCCTATAT ATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATATATA TATATCTCCTATATATATATCTCCTATATATATATCTCCTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	67	0.0149	190	c.223 others(209): Show c.223-88619_223-88618insTAGGAGATATATATATAGGAGATATA TATATAGGAGATATATATATATAGGAGATATATATATAGGAGATATATAT ATATAGGAGATATATATATAGGAGATATATATATATAGGAGATATATATA TAGGAGATATATATATATAGGAGATATATATATAGGAGATATATATATAT AGGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605988	A A	ATATATCT others(183): Show ATATATCTCCTATATATATATCTCCTATATATATATATCTCCTATATATA TATCTCCTATATATATATATCTCCTATATATATATCTCCTATATATATCT CTCCTATATATATATCTCCTATATATATATCTCCTATATATATATCTCCT ATATATATATATATCTCCTATATATATATATCTCCTATATC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	37	0.0270	190	c.223 others(209): Show c.223-88830_223-88829insGATATAGGAGATATATATATATAGGA GATATATATATATATAGGAGATATATATATAGGAGATATATATATAGGAG ATATATATATAGGAGAGATATATATAGGAGATATATATATAGGAGATATA TATATATAGGAGATATATATATAGGAGATATATATATATAGGAGATATAT ATATAGGAGATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PCED1A_chr20_2830314_2845655	2842890	A A	ATCGATAG others(183): Show ATCGATAGATACATCTATCTATCGATCGATAGATACATCTATCTATCGAT CGATAGATACATCTATCTATCGATCGATAGATACATCTATCTATCGATCG ATAGATACATCTATCTATCGATCGATAGATACATCTATCTATCGATCGAT AGATACATCTATCTATCGATCGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03130.hp1 HG02622.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	424	0.0047	190	c.-27 others(201): Show c.-2702_-2701insGATAGATACATCTATCTATCGATCGATAGATAGA TGTATCTATCGATCGATAGATAGATGTATCTATCGATCGATAGATAGATG TATCTATCGATCGATAGATAGATGTATCTATCGATCGATAGATAGATGTA TCTATCGATCGATAGATAGATGTATCTATCGATCGATAGATAGATGTATC TATCGA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2236		chr20	TogoVar
PCLO_chr7_82749012_83167884	82999558	T T	TATAAAAC others(183): Show TATAAAACATAAAATATAATATGTAATATTAAATATAAAATATAATATGT AATATTAAATATAAAATATAATATGTAATATTAAATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTAAATATAAAATATAAT ATGTAATATTAAATATAAAATATAATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03491.hp2 HG01081.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0064 a0001c0001 a0001c0064	a0001c0001t0002 a0001c0064t0009 a0001c0001t0002 a0001c0064t0009	a0001c0001t0002g0015 a0001c0064t0009g0031 a0001c0001t0002g0015 a0001c0064t0009g0031	2	95	0.0211	190	c.330 others(211): Show c.3301-33072_3301-33071insTATATAATATTACATATTATATTT TATATTTAATATTACATATTATATTTTATATTTAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATTTAATATTACATATTAT ATTTTATATTTAATATTACATATTATATTTTATATTTAATATTACATATT ATATTTTATGTTTTAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82999558	T T	TATAAAAC others(183): Show TATAAAACATAAAATATAATATGTAATATTAAATATAAAATATAATATGT AATATTAAATATAAAATATAATATGTAATATTATATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03471.hp2 HG02258.hp1 HG03471.hp2	a0034 a0044 a0034 a0044	a0034c0030 a0044c0074 a0034c0030 a0044c0074	a0034c0030t0011 a0044c0074t0003 a0034c0030t0011 a0044c0074t0003	a0034c0030t0011g0010 a0044c0074t0003g0121 a0034c0030t0011g0010 a0044c0074t0003g0121	2	95	0.0211	190	c.330 others(211): Show c.3301-33072_3301-33071insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATTTAATATTACATATTATATTTTATATTTAATATTACATATT ATATTTTATGTTTTAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCSK5_chr9_75885673_76367975	76118392	T T	TGATGCTA others(183): Show TGATGCTATCCTTACTTAGCAATGAAAGTGATGAATCTCACTTTGATTCC CAAGTTGAAAAACAATATTCCAGTCTTTGAAATCCAAAAGATTGAGAGCC TTTTTCATCACAGTGGTGCTTGCAAGCATTCTACTGATTTCATTTGCCAC TAGTATCTTAGAAGCAAATAAGTATTTATTTAATACTGACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02451.hp1 HG02723.hp2 others(5): Show HG01255.hp1 HG02451.hp1 HG02723.hp2 HG02895.hp1 HG03453.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp1	a0003 a0006 a0008 others(4): Show a0003 a0006 a0008 a0018 a0019 a0042 a0045	a0003c0098 a0006c0067 a0008c0003 others(5): Show a0003c0098 a0006c0067 a0008c0003 a0008c0060 a0018c0089 a0019c0091 a0042c0041 a0045c0065	a0003c0098t0017 a0006c0067t0001 a0008c0003t0017 others(5): Show a0003c0098t0017 a0006c0067t0001 a0008c0003t0017 a0008c0060t0043 a0018c0089t0003 a0019c0091t0004 a0042c0041t0024 a0045c0065t0037	a0003c0098t0017g0042 a0006c0067t0001g0058 a0008c0003t0017g0045 others(5): Show a0003c0098t0017g0042 a0006c0067t0001g0058 a0008c0003t0017g0045 a0008c0060t0043g0166 a0018c0089t0003g0099 a0019c0091t0004g0164 a0042c0041t0024g0127 a0045c0065t0037g0015	8	164	0.0488	190	c.120 others(211): Show c.1208+11045_1208+11234dupGCTATCCTTACTTAGCAATGAAAG TGATGAATCTCACTTTGATTCCCAAGTTGAAAAACAATATTCCAGTCTTT GAAATCCAAAAGATTGAGAGCCTTTTTCATCACAGTGGTGCTTGCAAGCA TTCTACTGATTTCATTTGCCACTAGTATCTTAGAAGCAAATAAGTATTTA TTTAATACTGACAGAT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PERM1_chr1_970198_987093	977809	A A	ACTCCCCC others(183): Show ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCTCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0166 a0004c0004t0002g0166	1	249	0.0040	190	c.214 others(209): Show c.2149+1071_2149+1072insGGGCAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGAGGGA GTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGGGGGGAG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX11B_chr1_145906350_145923717	145909622	A A	ATGTTATA others(183): Show ATGTTATATATTATATGTATATTATATATAATATATAATTGTTATATATT ATATGTATATTATATATAATATATAATTGTTATATATTATATGTATATTA TATATAATATATAATTGTTATATATTATATGTATATTATATATAATATAT AATTGTTATATATTATATGTATATTATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	335	0.0030	190	c.25 others(201): Show c.2538_*2539insATTATATATTATATATAATATACATATAATATAT AACAATTATATATTATATATAATATACATATAATATATAACAATTATATA TTATATATAATATACATATAATATATAACAATTATATATTATATATAATA TACATATAATATATAACAATTATATATTATATATAATATACATATAATAT ATAACA	PEX11B	ENSG00000131779.11	transcript	ENST00000369306.8	protein_coding		1727		chr1	TogoVar
PEX26_chr22_18072990_18110396	18106943	G G	GTGGTTCC others(183): Show GTGGTTCCAGTCTGAGTCTGAAGTCTGAGACCCAGGAGAGCTGAAGATGT GGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGATGGTGTGGTT CCAGTCTGAGTCTGAAGTCTGAGACCCAGGAGAGCTGAAGATGTGGTTCC AGTCTGAGTCTGAAGCCTGAGACCCAGCAGAGCTGAAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp1 others(138): Show HG00140.hp1 HG00408.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02132.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(42): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0105 a0001c0001t0106 a0001c0001t0129 a0001c0001t0134 a0001c0001t0151 a0001c0001t0163	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0004g0001 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0127 a0001c0001t0005g0004 a0001c0001t0005g0092 a0001c0001t0010g0001 a0001c0001t0010g0131 a0001c0001t0011g0001 a0001c0001t0012g0026 a0001c0001t0012g0027 a0001c0001t0012g0041 a0001c0001t0030g0001 a0001c0001t0031g0039 a0001c0001t0031g0129 a0001c0001t0032g0001 a0001c0001t0033g0011 a0001c0001t0035g0038 a0001c0001t0036g0001 a0001c0001t0046g0025 a0001c0001t0046g0115 a0001c0001t0054g0011 a0001c0001t0055g0001 a0001c0001t0056g0009 a0001c0001t0057g0009 a0001c0001t0058g0001 a0001c0001t0059g0001 a0001c0001t0060g0001 a0001c0001t0061g0001 a0001c0001t0062g0001 a0001c0001t0063g0001 a0001c0001t0064g0111 a0001c0001t0065g0001 a0001c0001t0068g0124 a0001c0001t0069g0001 a0001c0001t0070g0107 a0001c0001t0071g0025 a0001c0001t0072g0036 a0001c0001t0073g0001 a0001c0001t0074g0123 a0001c0001t0075g0114 a0001c0001t0076g0039 a0001c0001t0077g0011 a0001c0001t0078g0013 a0001c0001t0079g0001 a0001c0001t0080g0013 a0001c0001t0081g0001 a0001c0001t0105g0005 a0001c0001t0106g0004 a0001c0001t0129g0027 a0001c0001t0134g0027 a0001c0001t0151g0001 a0001c0001t0163g0001	141	394	0.3579	190	c.18 others(203): Show c.18868_*18869insTGGTTCCAGTCTGAGTCTGAAGTCTGAGACCC AGGAGAGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGA GAGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAGTCTGAGACCCAGGAGA GCTGAAGATGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGCAGAGC TGAAGACA	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		1548		chr22	TogoVar
PHF3_chr6_63630802_63731011	63688245	C C	CATCCCCT others(183): Show CATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCC CATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCCCCTCCCCTCTCCCAT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCC CCTCCCCCCTTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01496.hp1 NA20805.hp1 HG01255.hp1 HG01496.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0004g0128 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0004g0128	3	318	0.0094	190	c.218 others(209): Show c.2189+2334_2189+2335insATCCCCTCCCACTCCGCTCGCCTCCC CTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCT CCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTTCCCCTCCTCCCCCCTC CCCTCCTCCCCCCT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15			chr6	TogoVar
PIK3R1_chr5_68210756_68306821	68262796	C C	CATATATA others(183): Show CATATATACATGTAGATGCATGTAGATACATGTATACATATATACATGTA GATACATGTATACATATATACATGTAGATGCATGTAGATACATGTATACA TATATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGA TGCATGTAGATACATGTGTACATATATACATGTAGATGCAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02083.hp2 HG02886.hp1 others(3): Show HG01123.hp1 HG02083.hp2 HG02886.hp1 NA18949.hp2 NA18960.hp2 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0026 a0001c0001t0028 a0001c0002t0009 others(3): Show a0001c0001t0026 a0001c0001t0028 a0001c0002t0009 a0001c0002t0026 a0001c0002t0068 a0002c0004t0007	a0001c0001t0026g0077 a0001c0001t0028g0008 a0001c0002t0009g0184 others(3): Show a0001c0001t0026g0077 a0001c0001t0028g0008 a0001c0002t0009g0184 a0001c0002t0026g0185 a0001c0002t0068g0133 a0002c0004t0007g0143	6	271	0.0221	190	c.335 others(209): Show c.335-10594_335-10593insATATATACATGTAGATGCATGTAGAT ACATGTATACATATATACATGTAGATACATGTATACATATATACATGTAG ATGCATGTAGATACATGTATACATATATACATGTAGATGCATGTAGATAC ATGTGTACATATATACATGTAGATGCATGTAGATACATGTGTACATATAT ACATGTAGATGCAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15			chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262796	C C	CATATATA others(183): Show CATATATACATGTAGATGCATGTAGATACATGTATACATATATACATGTA GATGCATGTAGATACATGTATACATATATACATGTAGATACATGTATACA TATATACATGTAGATGCATGTAGATACATGTATACATATATACATGTAGA TGCATGTAGATACATGTGTACATATATACATGTAGATGCAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0078 a0001c0001t0024g0078	1	266	0.0038	190	c.335 others(209): Show c.335-10594_335-10593insATATATACATGTAGATGCATGTAGAT ACATGTATACATATATACATGTAGATGCATGTAGATACATGTATACATAT ATACATGTAGATACATGTATACATATATACATGTAGATGCATGTAGATAC ATGTATACATATATACATGTAGATGCATGTAGATACATGTGTACATATAT ACATGTAGATGCAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15			chr5	TogoVar
PLEKHG4B_chr5_87168_194966	140879	C C	CCAACCCA others(183): Show CCAACCCACTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAAC CTCCCCTGCACACCCCACCCCTTCCGCTGCACACCCCCGCCCTCTCCCCT GCACACCCCCACCCTCTACCCTGCACACCCCCACCCCCTCCCCTGCACAC CCCACCCCTTCCGCTGCACACCCCACCCCCTCCCCTGCACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01261.hp2 HG02258.hp2 others(10): Show HG00597.hp2 HG01261.hp2 HG02258.hp2 HG02451.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp1 NA18984.hp1 NA19012.hp1	a0006 a0009 a0016 others(2): Show a0006 a0009 a0016 a0033 a0038	a0006c0021 a0006c0070 a0006c0072 others(6): Show a0006c0021 a0006c0070 a0006c0072 a0006c0073 a0009c0014 a0009c0069 a0016c0022 a0033c0081 a0038c0074	a0006c0021t0018 a0006c0021t0044 a0006c0070t0046 others(9): Show a0006c0021t0018 a0006c0021t0044 a0006c0070t0046 a0006c0072t0036 a0006c0073t0020 a0009c0014t0019 a0009c0014t0041 a0009c0014t0043 a0009c0069t0019 a0016c0022t0008 a0033c0081t0058 a0038c0074t0035	a0006c0021t0018g0198 a0006c0021t0044g0199 a0006c0070t0046g0207 others(10): Show a0006c0021t0018g0198 a0006c0021t0044g0199 a0006c0070t0046g0207 a0006c0072t0036g0206 a0006c0073t0020g0193 a0009c0014t0019g0205 a0009c0014t0041g0197 a0009c0014t0043g0201 a0009c0069t0019g0204 a0016c0022t0008g0195 a0016c0022t0008g0196 a0033c0081t0058g0200 a0038c0074t0035g0203	13	207	0.0628	190	c.147 others(207): Show c.1477+164_1477+165insAACCCACTCCCCTGCACACCCCACCCCC TCCCCTGCACACCCCACAACCTCCCCTGCACACCCCACCCCTTCCGCTGC ACACCCCCGCCCTCTCCCCTGCACACCCCCACCCTCTACCCTGCACACCC CCACCCCCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCCCACCCCC TCCCCTGCACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	140947	C C	CCCCTTCC others(183): Show CCCCTTCCGCTGCACACCCCCGCCCTCTCCCCTGCACACCCCCACCCTCT ACCCTGCACACCCCCACCCCCTCCCCTGCACACCCCACCCCTTCCGCTGC ACACCCCACCCCCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCAAC CCACTCCCCTGCACATCCCACCCCCTCCCCTGCACACCCCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0053 a0011c0023t0053	a0011c0023t0053g0183 a0011c0023t0053g0183	1	208	0.0048	190	c.147 others(207): Show c.1477+231_1477+232insCCCTTCCGCTGCACACCCCCGCCCTCTC CCCTGCACACCCCCACCCTCTACCCTGCACACCCCCACCCCCTCCCCTGC ACACCCCACCCCTTCCGCTGCACACCCCACCCCCTCCCCTGCACACCCCA CCCCTTCCGCTGCACACCAACCCACTCCCCTGCACATCCCACCCCCTCCC CTGCACACCCCA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19			chr5	TogoVar
PPFIA2_chr12_81252975_81764350	81642705	T T	TATATATT others(183): Show TATATATTATATACATACATGTATGTATATATTATATACATACATGTATG TATATATTATATACATACATGTATGTATATATTATATACATACTGTATGT ATATAATATATACATAATGTATGTATATATTATATACATACATGTATGTA TATAATATATACATAATGTATGTATATATTATATACATACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	145	0.0069	190	c.303 others(209): Show c.303+34085_303+34086insTGTATGTATATAATATATACATACAT TATGTATATATTATATACATACATGTATGTATATAATATATACATACATT ATGTATATATTATATACATACAGTATGTATATAATATATACATACATGTA TGTATATAATATATACATACATGTATGTATATAATATATACATACATGTA TGTATATAATATAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(183): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA21309.hp1 HG03017.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0018 a0001c0001t0001 a0001c0002t0018	a0001c0001t0001g0071 a0001c0002t0018g0197 a0001c0001t0001g0071 a0001c0002t0018g0197	2	187	0.0107	190	c.467 others(203): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(183): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTTCCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCTCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTTCTTCTTTCT TCCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0051 a0001c0002t0004g0051	1	186	0.0054	190	c.467 others(203): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTTCCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCTCT TCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTTCTTCTTTCTTCCCT CCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTC TCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRDM16_chr1_3064203_3443621	3287311	G G	GAGCCGCC others(183): Show GAGCCGCCCCGCCACGCGGGCATCCAGGATTGCACTTACCGGGGCTGGAG GCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCG CCCCCTGCCACGTGGGCATCCAGGATTGCATTTACCGGGACTGCAGCCGC CCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGACTGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0038 a0001c0004t0007g0038	1	208	0.0048	190	c.438 others(209): Show c.438+43207_438+43208insCTTACCGGGGCTGGAGGCGCCCCGCC ACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCCTGCCA CGTGGGCATCCAGGATTGCATTTACCGGGACTGCAGCCGCCCCGCCACGC GGGCATCCAGGATTGCATTTACCGGGACTGCAGCCGCCCCGCCACGCGGG CATCCAGGATTGCA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162011354	T T	TACTATAT others(183): Show TACTATATTATATATAATATAGTATATATTTATGATATATACTATATATA ATATAGTATATATTTATGATATATACTATATATAATATAGTATATATTTA TGATATATACTATATATAATATAGTATATATTTATGATATATACTATATA TAATATAGTATATATTTATGATATATACTATATTATTTATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0013 a0006c0010t0004g0013	1	21	0.0476	190	c.619 others(209): Show c.619-37938_619-37937insTATAAATAATATAGTATATATCATAA ATATATACTATATTATATATAGTATATATCATAAATATATACTATATTAT ATATAGTATATATCATAAATATATACTATATTATATATAGTATATATCAT AAATATATACTATATTATATATAGTATATATCATAAATATATACTATATT ATATATAATATAGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PROZ_chr13_113153648_113177386	113154196	G G	GAGGCGGG others(183): Show GAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA GGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGG GGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	301	0.0033	190	c.-44 others(201): Show c.-4465_-4464insAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAG GCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAG GGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGC GCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGC GGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4451		chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133923	C C	CCCCTCTC others(183): Show CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTC ACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCC CCTCCCTCTCTTCCTCCCTCTCCACCTTCCCCTCTCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	204	0.0049	190	c.24 others(201): Show c.2491_*2492insCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTC CCTCTCTCCACCTCCCCTCCCTCTCTTCCTCCCTCTCCACCTTCCCCTCT CTCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2211		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133984	C C	CACCTCCC others(183): Show CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCTCCCCTC TCCCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCT CCACCTTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTC CCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	212	0.0047	190	c.25 others(201): Show c.2552_*2553insACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCC CTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTC CCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTTCCCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCT CCACCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2272		chr19	TogoVar
PSEN1_chr14_73131507_73228691	73189448	T T	TAAAAATA others(183): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03579.hp2 HG01081.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0015 a0001c0006t0006 a0001c0001t0015 a0001c0006t0006	a0001c0001t0015g0301 a0001c0006t0006g0152 a0001c0001t0015g0301 a0001c0006t0006g0152	2	359	0.0056	190	c.548 others(207): Show c.548+2554_548+2555insAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAAA TTAGCCGGGCGT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTPRM_chr18_7562316_8411856	7985312	C C	CGTATATA others(183): Show CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02965.hp1 HG03516.hp1 others(1): Show HG01928.hp1 HG02965.hp1 HG03516.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0001c0022 others(1): Show a0001c0001 a0001c0021 a0001c0022 a0002c0007	a0001c0001t0001 a0001c0021t0001 a0001c0022t0001 others(1): Show a0001c0001t0001 a0001c0021t0001 a0001c0022t0001 a0002c0007t0001	a0001c0001t0001g0001 a0001c0021t0001g0062 a0001c0022t0001g0017 others(1): Show a0001c0001t0001g0001 a0001c0021t0001g0062 a0001c0022t0001g0017 a0002c0007t0001g0010	4	61	0.0656	190	c.113 others(211): Show c.1132+29898_1132+29899insGTATATAAATATATACATATACTG GTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAAT ATATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAG ATACGTAAATATATACATATACTGGTAGATACGTATATAAATATATACAT ATACTGGTAGATACGT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
PTPRM_chr18_7562316_8411856	7985342	C C	CGTATATA others(183): Show CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA AATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	31	0.0323	190	c.113 others(211): Show c.1132+29928_1132+29929insGTATATAAATATATACATATACTG GTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAAT ATATACATATACTGGTAGATACGTAAATATATACATATACTGGTAGATAC GTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACAT ATACTGGTAGATACGT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
RAB11FIP3_chr16_420649_528011	504249	T T	TCCTCCTG others(183): Show TCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACC CCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCCTCACCTCTTCCTGTACCCGCCTCACCTCCTCCTGCACTCC CATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0059 a0001c0006t0059	a0001c0006t0059g0111 a0001c0006t0059g0111	1	195	0.0051	190	c.139 others(209): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCTTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATC TCCTCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCACCTCCTGTACCCC CTCACCTCCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114044231	C C	CCCCCCGC others(183): Show CCCCCCGCCTCACTCGCTGAGCCCCCCCCCCCCGCCTCACTCGCTGAGCC CCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAG CCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCGCCTCACTC GCTGAGCTCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0033 a0001c0001t0007g0033	1	51	0.0196	190	c.278 others(207): Show c.278-3138_278-3137insCGGGGGGGCTCAGCGAGTGAGGCGGGGG GGGGGAGCTCAGCGAGTGAGGCGGCGGGGGGAGCTCAGCGAGTGAGGCGG GGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGT GAGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGGGGCTCAGCGA GTGAGGCGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099939	G G	GCCCCCCC others(183): Show GCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCC CCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACA GCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCC CCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0029	1	61	0.0164	190	c.56- others(207): Show c.56-26103_56-26102insGCTGTGGGGGGGCTGCTGTGGGGGCTGT GGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGG GCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTG TGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGG GCTGTGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBM33_chr7_155639661_155786480	155673584	A A	ATATATAT others(183): Show ATATATATACACGCATATACATACACACGTGTATATATATACACGCATAT ACATACACACGTGTATATATATACACGCATATACATACACACGTGTATAT ATATACACGCATATACATACACACGTGTATATATATACACGCATATACAT ACACACGTGTATATATATACACGCATATACATACACACGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0251 a0001c0003t0019g0254 a0001c0003t0019g0251 a0001c0003t0019g0254	2	293	0.0068	190	c.171 others(205): Show c.171+677_171+678insCACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACACGTGTATATATATACA CGCATATACATACACACGTGTATATATATACACGCATATACATACACACG TGTATATATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCGGAG others(183): Show GGGCGGAGGGGAGGGTGGAGAGATGGGGGTATGTGGGGAGGGAACAAGGG TGTAGAGATGGGGGTGCGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGG GCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGA GAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01257.hp1 others(12): Show HG00438.hp1 HG00738.hp2 HG01257.hp1 HG01361.hp1 HG02004.hp1 HG02040.hp1 HG02273.hp1 HG04204.hp2 NA18947.hp1 NA18950.hp2 NA18965.hp2 NA18973.hp1 NA18975.hp2 NA19004.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0011 a0001c0002 a0001c0004 a0002c0011	a0001c0002t0001 a0001c0004t0001 a0002c0011t0001 a0001c0002t0001 a0001c0004t0001 a0002c0011t0001	a0001c0002t0001g0020 a0001c0002t0001g0228 a0001c0002t0001g0235 others(12): Show a0001c0002t0001g0020 a0001c0002t0001g0228 a0001c0002t0001g0235 a0001c0004t0001g0224 a0001c0004t0001g0227 a0001c0004t0001g0231 a0001c0004t0001g0233 a0001c0004t0001g0234 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0242 a0001c0004t0001g0253 a0002c0011t0001g0225 a0002c0011t0001g0230 a0002c0011t0001g0232	15	226	0.0664	190	c.188 others(209): Show c.1882-1434_1882-1433insGCGGAGGGGAGGGTGGAGAGATGGGG GTATGTGGGGAGGGAACAAGGGTGTAGAGATGGGGGTGCGGGGGGAGGGA GGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGT GTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGA GAGATGGGGGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS22_chr8_99955936_100111049	100051555	T T	TTATATAA others(183): Show TTATATAAATATATATTTATATGTTTATACATATATAAATATATATTTAT ATATGTTTATACATATATAAATATATATTTATATATGTTTATGCATATAT AAATATATATTTATATATGTTTATACATATATAAATATATATTTATATAT GTTTATACATATATAAATATATATTTATATATGTTTATACA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0117 a0011c0015t0001g0117	1	300	0.0033	190	c.168 others(209): Show c.1689+1246_1689+1247insTGTATAAACATATATAAATATATATT TATATATGTATAAACATATATAAATATATATTTATATATGTATAAACATA TATAAATATATATTTATATATGCATAAACATATATAAATATATATTTATA TATGTATAAACATATATAAATATATATTTATATATGTATAAACATATAAA TATATATTTATATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS22_chr8_99955936_100111049	100051897	T T	TTATATAT others(183): Show TTATATATTTATATATTTATATATAAATGTTTATATATTTATATATTTAT ATATAAATGTTTATATATATTTATATATTTATATATAAATGTTTATATAT ATTTATATATTTATATATAAATGTTTATATATATTTATATATTTATATAT AAATGTTTATATATATTTATATATTTATATATAAATGTTTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	276	0.0036	190	c.168 others(207): Show c.1689+904_1689+905insTAAACATTTATATATAAATATATAAATA TATATAAACATTTATATATAAATATATAAATATATATAAACATTTATATA TAAATATATAAATATATATAAACATTTATATATAAATATATAAATATATA TAAACATTTATATATAAATATATAAATATATAAACATTTATATATAAATA TATAAATATATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RIPOR3_chr20_50581108_50696542	50666181	C C	CCTTTTCT others(183): Show CCTTTTCTTTTCTTTTCCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0064 a0014c0019t0001g0064	1	272	0.0037	190	c.3+2 others(205): Show c.3+24944_3+24945insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGGAAAAG AAAAGAAAAG	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF17_chr13_24759169_24884921	24882088	A A	ATATATAG others(183): Show ATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATAGATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0010 a0003c0007t0001g0010	1	418	0.0024	190	c.23 others(201): Show c.2362_*2363insTATATAGATACATCTATATAGATACATCTATATA TAGATACATCTATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATAGATATATAGA TACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2168		chr13	TogoVar
ROPN1L_chr5_10436879_10470026	10458806	A A	ATGTACAC others(183): Show ATGTACACCATCTCACCCATGTACACCATCCCCCCGTATGCCCCATCCCC CCGTGTACACCATCCCCCCGTGTACACCGTCCCCACCATGTACACCATCC CCCCATGTACATCATCCCCTTGTATACACCACCCCACCCGTGTATACCGT CCCCCCATGTACACCATCCCCTCGTGTACACCATTCCCCCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	371	0.0027	190	c.418 others(207): Show c.418-2301_418-2300insGTCCCCACCATGTACACCATCCCCCCAT GTACATCATCCCCTTGTATACACCACCCCACCCGTGTATACCGTCCCCCC ATGTACACCATCCCCTCGTGTACACCATTCCCCCGTGTACACCATCTCAC CCATGTACACCATCCCCCCGTATGCCCCATCCCCCCGTGTACACCATCCC CCCGTGTACACC	ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RPH3AL_chr17_207389_357807	287659	T T	TCTCTCTC others(183): Show TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGT CAGACCTCACACCCTCTCTCTCCACCGTCAGACCTCGCACC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0023 a0001c0001t0014g0023	1	127	0.0079	190	c.352 others(207): Show c.352-5806_352-5805insGGTGCGAGGTCTGACGGTGGAGAGAGAG GGTGTGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACGGTGGAG AGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGT GGAGAGAGAGGGTGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGA CGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	334439	A A	AAGTGCAG others(183): Show AAGTGCAGCTCCTTCTCCCCACGCCTTCTCCGAGGGCCAGCCCATCCACT GCGGAGGGACAGGAACAAGGACAGGGACAAGGCAACCACCCCACCCAGTG CAGCTCCTTCTCCCCACGCCTTCCCCCAGGGCCAGCCCATCCACTGTGGA GGGACAGGGACAAGGACAGGGACAAGGCAACCACCCCACCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	132	0.0076	190	c.-21 others(207): Show c.-212-695_-212-506dupGGGTGGGGTGGTTGCCTTGTCCCTGTCC TTGTCCCTGTCCCTCCACAGTGGATGGGCTGGCCCTGGGGGAAGGCGTGG GGAGAAGGAGCTGCACTGGGTGGGGTGGTTGCCTTGTCCCTGTCCTTGTT CCTGTCCCTCCGCAGTGGATGGGCTGGCCCTCGGAGAAGGCGTGGGGAGA AGGAGCTGCACT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	334768	A A	ATCCACTG others(183): Show ATCCACTGTGGAGGGACAGGGACAAGGACAGGGACAAGGCAACCACCCCA CCCAGTGCAGCTCCTTCTCCCCACGCCTTCCCCCAGGGCCAGCCCGTCCA CTGTGGAGGGACAGGGACAAGGACAGGGACAAGGCAACCACCCCACCCAG TGCAGCTCCTTCTCCCCACGCCTTCCCCCAGGGCCAGCCCG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	36	0.0278	190	c.-21 others(207): Show c.-212-835_-212-834insCGGGCTGGCCCTGGGGGAAGGCGTGGGG AGAAGGAGCTGCACTGGGTGGGGTGGTTGCCTTGTCCCTGTCCTTGTCCC TGTCCCTCCACAGTGGACGGGCTGGCCCTGGGGGAAGGCGTGGGGAGAAG GAGCTGCACTGGGTGGGGTGGTTGCCTTGTCCCTGTCCTTGTCCCTGTCC CTCCACAGTGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(183): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02886.hp2 HG02895.hp1 HG01069.hp1 HG02886.hp2 HG02895.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0138 a0003c0003t0005 a0001c0001t0138 a0003c0003t0005	a0001c0001t0138g0116 a0003c0003t0005g0016 a0003c0003t0005g0138 a0001c0001t0138g0116 a0003c0003t0005g0016 a0003c0003t0005g0138	3	253	0.0119	190	c.-15 others(201): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TCATATAT others(183): Show TCATATATATATCTCATATATATGTGTCATATATATTGTCATATATATGT GTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATATGT GTCATATATATTGTCATATATATGTGTCATATATATGTGTCATATATATT GTCATATATATGTGTCATATATATTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0171 a0001c0001t0018g0171	1	143	0.0070	190	c.-27 others(201): Show c.-2733_-2732insCATATATATATCTCATATATATGTGTCATATATA TTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA TTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA TGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATA TGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626691	T T	TATACATG others(183): Show TATACATGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATA TACATGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATA CATGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATATA TGTCATATATGTGTGTCATATATATGTCATATATGTGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0012 a0001c0001t0010g0012	1	198	0.0051	190	c.-21 others(201): Show c.-2133_-2132insATACATGTCATATATGTGTGTCATATACATGTCA TATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATA TATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATATA TGTGTGTCATATATATGTCATATATGTGTGTCATATATATGTCATATATG TGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1706		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626711	G G	GTCATATA others(183): Show GTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATATGT CATATATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCA TATATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCATA TATATGTGTCATATATATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0020 a0001c0001t0055g0020	1	199	0.0050	190	c.-21 others(201): Show c.-2113_-2112insTCATATATATGTGTCATATATATGTCATATATAT GTGTCATATATATGTCATATATATGTGTCATATATATGTCATATATATGT GTCATATATATGTCATATATATGTGTCATATATATGTCATATATATGTGT CATATATATGTCATATATATGTGTCATATATATGTCATATATATGTGTCA TATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1686		chr7	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(183): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCT CCTCCCTTCCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	5	0.2000	190	c.77 others(201): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTT CCCTTCCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTTCCCCCTCCCTCC TTCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
S100A5_chr1_153532147_153545934	153535683	A A	AAACAGAA others(183): Show AAACAGAAACAAAATAACGAAAAACAAAAAACAAAAAAAAATAACAAAAA GACAAGAAAATAAAAAAAACAAACAAAAGAACCAAAAAAAAAAAACCACA AGAAAAAAACAAATAAAAACAACCAAAAACCCACAAAAACAAAAAACCAA AAACAAAAAAAAAAAACCATCAAAAGAAAGAAAAAACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	190	c.16 others(201): Show c.1612_*1613insGTGGGTTTTTTCTTTCTTTTGATGGTTTTTTTTT TTTGTTTTTGGTTTTTTGTTTTTGTGGGTTTTTGGTTGTTTTTATTTGTT TTTTTCTTGTGGTTTTTTTTTTTTGGTTCTTTTGTTTGTTTTTTTTATTT TCTTGTCTTTTTGTTATTTTTTTTTGTTTTTTGTTTTTCGTTATTTTGTT TCTGTT	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding		1463		chr1	TogoVar

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