Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(297): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00639.hp1 others(35): Show HG00408.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01891.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02074.hp2 HG02129.hp2 HG02165.hp2 HG02886.hp2 HG02922.hp2 HG03688.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18945.hp1 NA19007.hp1 NA19070.hp2 NA19081.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0014 a0001c0022 a0002c0005 a0003c0008 a0005c0019 a0005c0020	a0001c0001t0002 a0001c0001t0028 a0001c0002t0002 others(25): Show a0001c0001t0002 a0001c0001t0028 a0001c0002t0002 a0001c0002t0003 a0001c0002t0055 a0001c0002t0062 a0001c0002t0069 a0001c0002t0070 a0001c0002t0073 a0001c0003t0081 a0001c0006t0002 a0001c0006t0009 a0001c0006t0016 a0001c0006t0053 a0001c0007t0003 a0001c0010t0003 a0001c0012t0019 a0001c0012t0068 a0001c0014t0019 a0001c0022t0003 a0002c0005t0009 a0002c0005t0017 a0002c0005t0018 a0002c0005t0067 a0003c0008t0002 a0003c0008t0016 a0005c0019t0003 a0005c0020t0016	a0001c0001t0002g0057 a0001c0001t0028g0078 a0001c0002t0002g0043 others(35): Show a0001c0001t0002g0057 a0001c0001t0028g0078 a0001c0002t0002g0043 a0001c0002t0002g0088 a0001c0002t0003g0047 a0001c0002t0003g0050 a0001c0002t0003g0061 a0001c0002t0003g0211 a0001c0002t0055g0103 a0001c0002t0062g0036 a0001c0002t0069g0218 a0001c0002t0070g0018 a0001c0002t0073g0085 a0001c0003t0081g0199 a0001c0006t0002g0011 a0001c0006t0009g0013 a0001c0006t0009g0053 a0001c0006t0009g0083 a0001c0006t0016g0046 a0001c0006t0053g0051 a0001c0007t0003g0032 a0001c0010t0003g0139 a0001c0010t0003g0140 a0001c0012t0019g0031 a0001c0012t0068g0093 a0001c0014t0019g0001 a0001c0022t0003g0019 a0002c0005t0009g0166 a0002c0005t0017g0181 a0002c0005t0018g0007 a0002c0005t0018g0055 a0002c0005t0067g0082 a0003c0008t0002g0064 a0003c0008t0002g0089 a0003c0008t0002g0108 a0003c0008t0016g0119 a0005c0019t0003g0058 a0005c0020t0016g0087	38	218	0.1743	304	c.262 others(319): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCC CCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(297): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAG GGGAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0091 a0001c0001t0021g0091	1	218	0.0046	304	c.262 others(319): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTC CCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCC TCCCATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCC CCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PLCB1_chr20_8127266_8889900	8689956	T T	TGTCTCCA others(297): Show TGTCTCCAAATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG TTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAG CTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp2 NA20752.hp2 HG01496.hp1 HG01891.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0017 a0001c0002 a0003c0017	a0001c0002t0003 a0001c0002t0013 a0003c0017t0009 a0001c0002t0003 a0001c0002t0013 a0003c0017t0009	a0001c0002t0003g0075 a0001c0002t0013g0005 a0003c0017t0009g0022 a0001c0002t0003g0075 a0001c0002t0013g0005 a0003c0017t0009g0022	3	106	0.0283	304	c.100 others(323): Show c.1009+4892_1009+4893insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCT CACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGTCTCCAAATTTCT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8689956	T T	TGTCTCCA others(297): Show TGTCTCCAAATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG TTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAG CTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02630.hp2 HG02647.hp1 others(3): Show HG01517.hp2 HG02630.hp2 HG02647.hp1 HG02895.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0014 a0001c0002t0003 a0001c0003t0005 others(3): Show a0001c0001t0014 a0001c0002t0003 a0001c0003t0005 a0001c0005t0007 a0001c0006t0002 a0001c0006t0003	a0001c0001t0014g0007 a0001c0002t0003g0023 a0001c0003t0005g0046 others(3): Show a0001c0001t0014g0007 a0001c0002t0003g0023 a0001c0003t0005g0046 a0001c0005t0007g0032 a0001c0006t0002g0048 a0001c0006t0003g0017	6	106	0.0566	304	c.100 others(323): Show c.1009+4892_1009+4893insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCT CACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGTCTCCAAATTTCT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(297): Show CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT GCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT GCCTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0093 a0001c0016t0001g0093	1	250	0.0040	304	c.309 others(323): Show c.3095-4701_3095-4700insCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTC CTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTGCCTGCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(297): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19000.hp2 NA19011.hp1 others(4): Show NA18994.hp1 NA19000.hp2 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19084.hp1 NA19091.hp2	a0002 a0095 a0096 a0002 a0095 a0096	a0002c0002 a0095c0052 a0096c0051 a0002c0002 a0095c0052 a0096c0051	a0002c0002t0002 a0095c0052t0002 a0096c0051t0002 a0002c0002t0002 a0095c0052t0002 a0096c0051t0002	a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0061 others(2): Show a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0061 a0095c0052t0002g0070 a0096c0051t0002g0069	7	358	0.0196	304	c.326 others(321): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(297): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18994.hp1 NA19000.hp2 others(4): Show NA18982.hp2 NA18994.hp1 NA19000.hp2 NA19011.hp1 NA19056.hp2 NA19084.hp1 NA19091.hp2	a0002 a0086 a0087 a0002 a0086 a0087	a0002c0002 a0086c0045 a0087c0044 a0002c0002 a0086c0045 a0087c0044	a0002c0002t0002 a0086c0045t0002 a0087c0044t0002 a0002c0002t0002 a0086c0045t0002 a0087c0044t0002	a0002c0002t0002g0044 a0002c0002t0002g0057 a0002c0002t0002g0060 others(4): Show a0002c0002t0002g0044 a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0069 a0002c0002t0002g0072 a0086c0045t0002g0026 a0087c0044t0002g0056	7	302	0.0232	304	c.321 others(321): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PNPLA7_chr9_137454952_137555402	137518258	T T	TTCACTCA others(297): Show TTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGACTCCACTC TGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCC CACTCACTCACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCAC TCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCCC TCACTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCA CTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATC CCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02735.hp1 HG02145.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0104 a0001c0001t0001g0105	2	188	0.0106	304	c.108 others(323): Show c.1084+1658_1084+1659insCGGGGGATGGAGTGGACAGAGTGGAG TGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGAT GGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTGG AGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGA TGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTG GAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTCAGTGAGTGGGG GATGGAGTGAGCAGAGTGGAGTGAGTGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPP1R12A_chr12_79768568_79940097	79867530	G G	GAAAAAAG others(297): Show GAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0094 a0001c0002t0009g0094	1	312	0.0032	304	c.368 others(321): Show c.368+5277_368+5278insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTTTTTT	PPP1R12A	ENSG00000058272.19	transcript	ENST00000450142.7	protein_coding	2/24			chr12	TogoVar
PPP1R21_chr2_48435766_48520386	48502400	T T	TAAAAAGA others(297): Show TAAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0045 a0001c0003t0045	a0001c0003t0045g0159 a0001c0003t0045g0159	1	372	0.0027	304	c.193 others(323): Show c.1936-3156_1936-3155insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAGAG	PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKD1_chr14_29571479_29932847	29575102	T T	TTTGTTTA others(297): Show TTTGTTTATTCACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAGGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02976.hp2 HG02109.hp1 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0067 a0001c0003t0003g0138 a0001c0003t0001g0067 a0001c0003t0003g0138	2	156	0.0128	304	c.21 others(315): Show c.2135_*2136insCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAAGTGAATAAACAA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding		1376		chr14	TogoVar
PRPF31_chr19_54110754_54136713	54133994	C C	CACCTCCC others(297): Show CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	227	0.0044	304	c.25 others(315): Show c.2562_*2563insACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACC TCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2282		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504502	T T	TTCCTGTA others(297): Show TTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCT TGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACC CCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTC CTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTT GTGCAACCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCA CCTCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02896.hp2 HG01981.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0174 a0001c0001t0002g0176	2	295	0.0068	304	c.139 others(323): Show c.1396-1013_1396-1012insACCTCCTCCTGTACCCCCTCACCTCC TCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCC TCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCCTCACCTCCTCCTGTACC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114044392	C C	CCTCACTC others(297): Show CCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCG CCTCACTCGCTGAGCACCCCCCCGCCGCCTCACTCGCTGAGCCCCCCGCC CCGCCTCACTCGCTGAGCCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCT CCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGC ACCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGC TGAGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCG CTGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	67	0.0149	304	c.278 others(321): Show c.278-3299_278-3298insCTCAGCGAGTGAGGCGGGGGGGGAGCTC AGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGC TCAGCGAGTGAGGCGGGGCGGGGGGGTGCTCAGCGAGTGAGGCGGGGGGG GAGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCG GGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGG CGGCGGGGGGGTGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGA GGCGGGGGGGGAGCTCAGCGAGTGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7447278	C C	CAAAAATT others(297): Show CAAAAATTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0046 a0001c0001t0014g0046	1	68	0.0147	304	c.28- others(321): Show c.28-70861_28-70860insCTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATTA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7447278	C C	CAAAAATT others(297): Show CAAAAATTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0224 a0001c0001t0029g0224	1	234	0.0043	304	c.88- others(321): Show c.88-70861_88-70860insCTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATTA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(297): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAG CTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGT TCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCAT GTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTT GCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCC GCCTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01884.hp2 HG01891.hp1 others(9): Show HG01256.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02683.hp1 HG02895.hp2 HG03139.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0002t0005 a0001c0002t0063 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083 a0001c0002t0084 a0001c0002t0085 a0001c0003t0051	a0001c0001t0001g0023 a0001c0001t0008g0061 a0001c0002t0002g0084 others(9): Show a0001c0001t0001g0023 a0001c0001t0008g0061 a0001c0002t0002g0084 a0001c0002t0002g0232 a0001c0002t0005g0108 a0001c0002t0063g0146 a0001c0002t0081g0102 a0001c0002t0082g0105 a0001c0002t0083g0104 a0001c0002t0084g0107 a0001c0002t0085g0103 a0001c0003t0051g0191	12	280	0.0429	304	c.67- others(319): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGCA ATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTGCC TCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGGCT AATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCTG GTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(297): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACA TACATATGTATGTATGTGTATACATACGTATGTATGTGTACACATACGTA TGTATGTGTACACATACATATGTATGTATGTGTACACATACGTATGTATG TGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 NA18941.hp2 HG02523.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	452	0.0044	304	c.-23 others(315): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATACACATACATACATATGTATGTATACACATACATACGTATGTATACAC ATACATACATACGTATGTATACACATACATACGTATGTATACACATACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGCATACACATACATATGTATGCATACACATACATATGTATGC ATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759522	T T	TGTATGTG others(297): Show TGTATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTA TGCATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTA CGTATGTGTATACATACATACGTATGTATGTGTACACATACGTACGTATG TGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTGTACA CATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	304	c.-23 others(315): Show c.-2338_-2337insGTATGTGTACACATACATACGTATGTGTACACAT ACATACGTATGTATGTGTACACATACGTACGTATGTGTACACATACATAC GTATGTATGTATACACATACGTACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGCATACACATACATATGTATGCATACACATAC ATATGTATGCATACACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2113		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759540	T T	TATGTATG others(297): Show TATGTATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTA TGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATA CATACATACGTATGTATGTGTACACATACGTATGTATGTGTATACATACA TACGTATGTATGTGTACACATACGTATGTATGTGTACACATACATACGTA TGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATG TGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	304	c.-23 others(315): Show c.-2356_-2355insGTACACATACATACATATGTATGTGTACACATAC ATACGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGT ATGTGTACACATACATACGTATGTATGTATACACATACATACGTATGTGT ACACATACATACGTATGTATGTATACACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGCATACACATACATACATACGTATGCATACACATACAT ATGTATGCATACACATACAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2131		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(297): Show CATACGTATGTATGTGTATACATACATATGTATGTATGTGTATACATACG TATGTATGTGTATACATACATATGTATGTATGTGTATACATACGTATGTA TGTGTATACATACATACGTATGTATGTGTACACATACGTATGTATGTGTA CACATACATATGTATGTATGTGTACACATACATATGTATGTATGTGTATA CATATGTATGTATGTGTACACATACATATGTATGTATGTGTATACATACG TATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTA TGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18988.hp2 NA18939.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	452	0.0044	304	c.-24 others(315): Show c.-2426_-2425insACACATACATACGTATGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATACACATACATACATATGTAT GTGTACACATACATACATATGTATACACATACATACATATGTATGTGTAC ACATACATACATATGTATGTGTACACATACATACGTATGTGTACACATAC ATACGTATGTATGTATACACATACATACGTATGTATACACATACATACAT ATGTATGTATACACATACATACGTATGTATACACATACATACATATGTAT GTATACACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2201		chr3	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(297): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATAATATAAA ATATATATATATAATATATATATATAAAATATATATATAAAATATATATA TAATATATATATATAAAATATATATATAAAATATATATATATAATATATA TATAAAATATATATATATATTATATATATATATAAAATATATATAAAATA TATATATAATATATATATAAAATATATATATAATATATATATAATATATA TATAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0149 a0002c0017t0001g0149	1	410	0.0024	304	c.67- others(317): Show c.67-812_67-811insTTATATATATATTATATATATATTATATATAT ATTTTATATATATATTATATATATATTTTATATATATTTTATATATATAT ATAATATATATATATATTTTATATATATATTATATATATATATTTTATAT ATATATTTTATATATATATATTATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATATTTTATATTATATATATTATATATATAT ATTTTATATATATATATTATATATATATATTTTATATATATATATTATAT ATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(297): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAATATATATATATAATATATATA TAAAATATATATATATATTATATATATATATAAAATATATATAAAATATA TATATAATATATATATAAAATATATATATAATATATATATAATATATATA TATAA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19060.hp1 NA19082.hp1 NA18982.hp2 NA19060.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	3	410	0.0073	304	c.67- others(317): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTATA TATATATTTTATATATATATATTATATATATATTTTATATATATATTTTA TATATATATATTATATATATATATTTTATATATATATATTATATATATAT ATTTTATATATATATATTATATATATATATTTTATATATATATATTATAT ATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNASE10_chr14_20500537_20518884	20506780	C C	CGCCCGGC others(297): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC TCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp1 NA18522.hp1 HG02976.hp1 HG03195.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0027 a0003c0003t0027	a0003c0003t0027g0023 a0003c0003t0027g0023	3	396	0.0076	304	c.-6+ others(317): Show c.-6+799_-6+800insGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAG CCCCCCTCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF17_chr13_24759169_24884921	24882023	T T	TATAGATA others(297): Show TATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	426	0.0024	304	c.22 others(315): Show c.2297_*2298insATAGATATATAGATACATCTAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2103		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882023	T T	TATAGATA others(297): Show TATAGATATATAGATACATCTATATAGATATATAGATACATCTAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	426	0.0024	304	c.22 others(315): Show c.2297_*2298insATAGATATATAGATACATCTATATAGATATATAG ATACATCTAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2103		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(297): Show TATAGATACATAGATACATCTATATAGATACATAGATACATCTATATAGA TACATAGATACATCTATATAGATACATAGATACATCTATATAGATACATA GATACATCTATATAGATACATAGATACATCTATATAGATACATAGATACA TCTATATAGATACATAGATACATCTATATAGATACATAGATACATCTATA TAGATACATAGATACATCTATATAGATACATAGATACATCTATATAGATA TATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTA TATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0318 a0001c0002t0001g0318	1	426	0.0024	304	c.23 others(315): Show c.2363_*2364insATAGATACATAGATACATCTATATAGATACATAG ATACATCTATATAGATACATAGATACATCTATATAGATACATAGATACAT CTATATAGATACATAGATACATCTATATAGATACATAGATACATCTATAT AGATACATAGATACATCTATATAGATACATAGATACATCTATATAGATAC ATAGATACATCTATATAGATACATAGATACATCTATATAGATACATAGAT ACATCTATATAGATATATAGATACATCTATATAGATAGATACATCTATAT AGATAGATACATCTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNF213_chr17_80255852_80403794	80355673	G G	GAGGAAGA others(297): Show GAGGAAGAAGCGACGAAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGG GGAAGAAGTGGGGTGAACAGGATTGGGGGCTTATGGAGGAAGAAGCGGGG TGAACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATG GGGGCTTACGGAGGAAGAAGCGGGGTGACCGGGAATGGGAGCTTACAGGG GAAGAAGCGGGGTGAATGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGT GGATGGGAATCGGGGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGC TCACA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0023 a0003c0005t0023	a0003c0005t0023g0134 a0003c0005t0023g0134	1	292	0.0034	304	c.108 others(325): Show c.10862+1097_10862+1098insAGGAAGAAGCGACGAAGAAGTGGG GTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTG GGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGG GGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGG TGACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGG GGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGG AAGAGGGGTGACCGGGAATGGGGGCTCACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RPH3AL_chr17_207389_357807	317207	C C	CCACCTCC others(297): Show CCACCTCCACTGACGTGTAGTCCCTGTGCCCCACCTCCATTGACCTTTAG TCCCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTACTCCACCTCCAT TGACCTGCAGTGCCTGTGCTCCACCTCCATTGACCTGCAGTCCCTGTGCC CCACCTCCATTGACCTGTAGTCTCTCTGTCCCACCTCCATTGACCTTTAG TCCATGTGCCCCACCTCCATTGACCTGAAGTCCCTGTGCCCCCACCTCCA TTGACCTGTAGTCCCTGTGGCCCCACGTCCATTGACTTGTAGTCTCTGTG CTCCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02165.hp1 HG02698.hp2 others(2): Show HG01515.hp1 HG02165.hp1 HG02698.hp2 HG02738.hp2 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0001c0001t0020 a0001c0001t0037 others(2): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0037 a0002c0005t0005 a0002c0005t0023	a0001c0001t0003g0034 a0001c0001t0020g0127 a0001c0001t0037g0058 others(2): Show a0001c0001t0003g0034 a0001c0001t0020g0127 a0001c0001t0037g0058 a0002c0005t0005g0035 a0002c0005t0023g0125	5	133	0.0376	304	c.351 others(321): Show c.351+2212_351+2213insTGGAGCACAGAGACTACAAGTCAATGGA CGTGGGGCCACAGGGACTACAGGTCAATGGAGGTGGGGGCACAGGGACTT CAGGTCAATGGAGGTGGGGCACATGGACTAAAGGTCAATGGAGGTGGGAC AGAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTGCAGGTCAATG GAGGTGGAGCACAGGCACTGCAGGTCAATGGAGGTGGAGTACAGGGACTA CAGGTCAATGGAGGTGGAGCACAGGGACTAAAGGTCAATGGAGGTGGGGC ACAGGGACTACACGTCAGTGGAGGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS6KA5_chr14_90842861_91065641	90910531	G G	GAAAAAGT others(297): Show GAAAAAGTAAACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0224 a0001c0001t0224	a0001c0001t0224g0211 a0001c0001t0224g0211	1	306	0.0033	304	c.807 others(321): Show c.807-4233_807-4232insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGGTTTACTTTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	7/16			chr14	TogoVar
RPTOR_chr17_80539838_80971368	80963809	C C	CGTCCCCT others(297): Show CGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTC CCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT GTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCGCTGTGCGGCCGAGTCCTC ACCCT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0097 a0001c0097	a0001c0097t0001 a0001c0097t0001	a0001c0097t0001g0157 a0001c0097t0001g0157	1	196	0.0051	304	c.394 others(321): Show c.3940-449_3940-448insCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCGC TGTGCGGCCGAGTCCTCACCCTGTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSU1_chr10_16585611_16822424	16748873	T T	TCCCAGAG others(297): Show TCCCAGAGCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGG GGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGG CGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTAGCCAGGAGGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	190	0.0053	304	c.598 others(321): Show c.598+3665_598+3666insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCCTCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAGAGCTCTGGG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(297): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAG GGGGAGGGGGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGG GAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAA GGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAG GAGAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0325 a0001c0002t0005g0325	1	396	0.0025	304	c.807 others(321): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTC CCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCC CTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(297): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAG GGGGAGGGGGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGG GAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAA GGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAG GAGAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0324 a0001c0002t0005g0324	1	396	0.0025	304	c.807 others(321): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTC CCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCC CTCCTCCTCCCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(297): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0230 a0001c0003t0002g0230	1	376	0.0027	304	c.-58 others(311): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(297): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0226 a0001c0003t0002g0226	1	376	0.0027	304	c.-58 others(311): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(297): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp2 NA19043.hp2 HG02630.hp1 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0132	3	210	0.0143	304	c.899 others(319): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(297): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	210	0.0048	304	c.899 others(319): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATATATA others(297): Show TATATATAATATATATTTATATTATATATAATATATATTATATATAATAT ATAATATATATTATATATAATATATATTATATATAATATATAATATATAT TTATATATAATATATATAATATATTATATATAATATATAAATATATATAT ATTATATATAATATATATTTATATATAATATATAAATATAATTATATATT ATATATAATATATAAATATATATTATATATTATATATAATTATATTTATA TATTATATATAATATATAAATATATATTATATATATTTAATATATATTTT ATATA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19087.hp1 NA19011.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0035 a0001c0002t0001g0014 a0001c0001t0002g0035 a0001c0002t0001g0014	2	188	0.0106	304	c.193 others(323): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATATTTATATATTATATATAATATATAAATATAATTATATATAA TATATAATATATATTTATATATTATATATAATATATAATTATATTTATAT ATTATATATAAATATATATTATATATAATATATATATATTTATATATTAT ATATAATATATTATATATATTATATATAAATATATATTATATATTATATA TAATATATATTATATATAATATATATTATATATTATATATAATATATATT ATATATAATATAAATATATATTATATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SARDH_chr9_133658560_133743352	133669212	C C	CTCCCTCT others(297): Show CTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCTCTCTCCTTCCCTCCTCCCTTACCCTCCCTCTCCCTCACCTT CCCTCTCCCTCACCTCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCC TCCCTCTCCCCCTCATCCTCCCTCACCCTCCCTCTCCTCACCTTCCCTCT CCCTCACCTTCCCTCTCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCC CTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCT CACCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0004 a0003c0013t0004	a0003c0013t0004g0051 a0003c0013t0004g0051	1	262	0.0038	304	c.249 others(323): Show c.2495+1371_2495+1372insAGGTGAGGGAGAGGGAGGGTAAGGGA GAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAG ATGGAGGGTAAGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGAGAGGG AGGGTGAGGGAGGATGAGGGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGT GAGGGAGATGGAGGAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGT AAGGGAGGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTG AGGGAGAGGGAGGGTAAGGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(297): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACATACATATTTATACATATATG TATACATACATATTTATACATATATATGTATAAATACGTACATATTTATA CATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATA CGTACATATTTATACATATATATGTATAAATACGTACATATTTATACATA TATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTA CATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0062 a0012c0013t0001g0062	1	232	0.0043	304	c.43 others(315): Show c.4319_*4320insATATGTACGTATTTATACATATATATGTATAAAT ATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTATACAT ATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGT ACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATAT ATGTATAAATATGTATGTATACATATATGTATAAATATGTATGTATTTAT ACATATATGTATTAATACGTATTTATACATATATGTATTAATACGTATTT ATACATATATGTATTAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(297): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTAGACA GGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGCTC ACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCTCC AAGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG02723.hp2 others(5): Show HG01884.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0003c0005 others(1): Show a0002c0002 a0003c0003 a0003c0005 a0006c0007	a0002c0002t0002 a0003c0003t0006 a0003c0003t0026 others(2): Show a0002c0002t0002 a0003c0003t0006 a0003c0003t0026 a0003c0005t0003 a0006c0007t0006	a0002c0002t0002g0139 a0003c0003t0006g0069 a0003c0003t0006g0085 others(4): Show a0002c0002t0002g0139 a0003c0003t0006g0069 a0003c0003t0006g0085 a0003c0003t0006g0093 a0003c0003t0026g0098 a0003c0005t0003g0302 a0006c0007t0006g0020	8	414	0.0193	304	c.678 others(319): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA GAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAATAA ATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAGGC TGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGGGC TCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(297): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAACT GTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAGACA GGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGCTC ACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCTCC AAGGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18984.hp2 NA19065.hp1 others(1): Show NA18945.hp1 NA18984.hp2 NA19065.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0024 a0002c0002t0004g0126 a0002c0002t0004g0131 a0002c0002t0004g0024 a0002c0002t0004g0126 a0002c0002t0004g0131	4	414	0.0097	304	c.678 others(319): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAGGC TGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGGGC TCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCG5_chr15_32636710_32702092	32662486	T T	TGCTTTTC others(297): Show TGCTTTTCTTTTTCTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG01981.hp2 others(18): Show HG00408.hp1 HG00558.hp2 HG01981.hp2 HG04115.hp2 HG04199.hp2 NA18943.hp1 NA18946.hp2 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18993.hp1 NA18994.hp1 NA19000.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19066.hp1 NA19083.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0097 a0001c0001t0001g0099 others(17): Show a0001c0001t0001g0011 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0363	21	415	0.0506	304	c.227 others(323): Show c.227-17271_227-17270insTTTCTTTTTCTTTTTCTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAGCTTTTCTT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1288493	T T	TCCCCCGT others(297): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0100 a0007c0006t0001g0100	1	290	0.0035	304	c.166 others(321): Show c.1662+459_1662+460insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3708386	C C	CTCCAAGG others(297): Show CTCCAAGGTCCAGTTACCTCCCACCAGGCCCTGCATACCTCCAAGGTCCA GTTACCTCCCACCAGGCCCTCCATACTTCCAAGGTCCAGTTACCTCCCAC CAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCAT ACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGTC CAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCCC ACCAGGCCCTCCATACGTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCC ATACG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0020 a0020	a0020c0089 a0020c0089	a0020c0089t0047 a0020c0089t0047	a0020c0089t0047g0056 a0020c0089t0047g0056	1	116	0.0086	304	c.713 others(323): Show c.713+66312_713+66313insGCATACCTCCAAGGTCCAGTTACCTC CCACCAGGCCCTCCATACTTCCAAGGTCCAGTTACCTCCCACCAGGCCCT CCATACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAA GGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGTCCAGTTACC TCCCACCAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCCCACCAGGCC CTCCATACGTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACGTCC AAGGTCCAGTTACCTCCCACCAGGCCCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TATGTATG others(297): Show TATGTATGTGATATGTGATATATATATCACATATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT CACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA19043.hp1 HG01255.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0030 a0001c0002t0001g0069 a0001c0001t0001g0030 a0001c0002t0001g0069	2	244	0.0082	304	c.104 others(323): Show c.104-35140_104-35139insGTGTGATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATATG TGATATATATATCACATATCACATACAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863886	T T	TGTATGTG others(297): Show TGTATGTGATATGTGATATATATATCACATATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATGTATCACATACATATGT ATCACATACATATGTATCACATACATATGTATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATGTATCACATACATATCA CACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0003 a0004c0021t0003	a0004c0021t0003g0049 a0004c0021t0003g0049	1	244	0.0041	304	c.104 others(323): Show c.104-35142_104-35141insGTGTGTGATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATA CATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATA TGTGATATATATATCACATATCACATAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	84990753	T T	TTTGAGTG others(297): Show TTTGAGTGAGTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG06807.hp2 HG02886.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0134 a0002c0002t0015g0135 a0002c0002t0015g0134 a0002c0002t0015g0135	2	266	0.0075	304	c.86 others(315): Show c.8686_*8687insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAGAAACTCACTCAA	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding		4799		chr7	TogoVar
SEMA3D_chr7_84990553_85192056	84990753	T T	TTTGAGTG others(297): Show TTTGAGTGAGTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG03041.hp2 others(1): Show HG01884.hp1 HG02572.hp1 HG03041.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0017 a0002c0002t0015 a0002c0002t0017	a0002c0002t0015g0114 a0002c0002t0017g0194 a0002c0002t0017g0198 others(1): Show a0002c0002t0015g0114 a0002c0002t0017g0194 a0002c0002t0017g0198 a0002c0002t0017g0223	4	266	0.0150	304	c.86 others(315): Show c.8686_*8687insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAGAAACTCACTCAA	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding		4799		chr7	TogoVar

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Search Results (Total: 10000 hits)